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  • 1. Aaltonen, Minna
    et al.
    Soukka, Hanna
    Halkola, Lauri
    Jalonen, Jarmo
    Kalimo, Hannu
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Holopainen, Irma E
    Kääpä, Pekka O
    Inhaled nitric oxide treatment inhibits neuronal injury after meconium aspiration in piglets2007Inngår i: Early Human Development, ISSN 0378-3782, E-ISSN 1872-6232, Vol. 83, nr 2, s. 77-85Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Background: Meconium aspiration-induced hypertensive lung injury is frequently associated with neuronal damage. Inhaled nitric oxide (iNO) is widely used in the treatment of pulmonary hypertension, but its effects on the brain are poorly known. Aims: The aim of this study was to determine the effects of iNO treatment on the neuronal tissue after meconium aspiration. Study design: 71 anesthetized, catheterized and ventilated newborn piglets were studied for 6 h. Thirty-five piglets were instilled with a bolus of human meconium intratracheally and 36 piglets with saline instillation served as controls. Nineteen meconium piglets and 17 control piglets were continuously treated with 20 ppm of iNO, started at 30 min after the insult. The extent of neuronal injury was analysed histologically, and the levels of brain tissue lipid peroxidation products, reduced glutathione (GSH), myeloperoxidase activity and oxidized DNA were analysed as indicators of oxidative stress. Results: iNO treatment diminished the pulmonary hypertensive response caused by meconium aspiration, but did not change systemic or carotid hemodynamics. NO administration was associated with reduced neuronal injury and diminished amount of oxidized DNA in the hippocampus of the meconium piglets. Further, iNO treatment was associated with decreased level of GSH in the cortex, but no change in lipid peroxidation production or myeloperoxidase activity was detected in any of the studied brain areas. Conclusions: Our results suggest that iNO treatment may inhibit DNA oxidation and neuronal injury in the hippocampus, associated with newborn meconium aspiration.

  • 2. Aaltonen, Minna
    et al.
    Soukka, Hanna
    Halkola, Lauri
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Pathology.
    Holopainen, Irma E
    Kääpä, Pekka O
    Meconium aspiration induces neuronal injury in piglets.2005Inngår i: Acta Paediatr, ISSN 0803-5253, Vol. 94, nr 10, s. 1468-75Artikkel i tidsskrift (Fagfellevurdert)
  • 3. Amberla, Kaarina
    et al.
    Wäljas, Minna
    Tuominen, Susanna
    Almkvist, Ove
    Pöyhönen, Minna
    Tuisku, Seppo
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Viitanen, Matti
    Insidious cognitive decline in CADASIL.2004Inngår i: Stroke, ISSN 1524-4628, Vol. 35, nr 7, s. 1598-602Artikkel i tidsskrift (Fagfellevurdert)
  • 4. Anttonen, Anna-Kaisa
    et al.
    Mahjneh, Ibrahim
    Hämäläinen, Riikka H
    Lagier-Tourenne, Clotilde
    Kopra, Outi
    Waris, Laura
    Anttonen, Mikko
    Joensuu, Tarja
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Paetau, Anders
    Tranebjaerg, Lisbeth
    Chaigne, Denys
    Koenig, Michel
    Eeg-Olofsson, Orvar
    Institutionen för kvinnors och barns hälsa.
    Udd, Bjarne
    Somer, Mirja
    Somer, Hannu
    Lehesjoki, Anna-Elina
    The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.2005Inngår i: Nat Genet, ISSN 1061-4036, Vol. 37, nr 12, s. 1309-11Artikkel i tidsskrift (Fagfellevurdert)
  • 5. Aärimaa, Ville
    et al.
    Kääriäinen, Minna
    Vaittinen, Samuli
    Tanner, Johanna
    Järvinen, Tero
    Best, Thomas
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Restoration of myofiber continuity after transection injury in the rat soleus.2004Inngår i: Neuromuscul Disord, ISSN 0960-8966, Vol. 14, nr 7, s. 421-8Artikkel i tidsskrift (Fagfellevurdert)
  • 6. Aärimaa, Ville
    et al.
    Rantanen, Jussi
    Best, Thomas
    Schultz, Edward
    Corr, David
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Mild eccentric stretch injury in skeletal muscle causes transient effects on tensile load and cell proliferation.2004Inngår i: Scand J Med Sci Sports, ISSN 0905-7188, Vol. 14, nr 6, s. 367-72Artikkel i tidsskrift (Annet vitenskapelig)
  • 7.
    Bandusela, Varuna
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Ochala, Julien
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Lamberg, K
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Lungmedicin och allergologi.
    Kalimo, H
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Larsson, Lars
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Muscle paralysis and myosin loss in a patient with cancer cachexia2007Inngår i: Acta myologica, ISSN 1128-2460, Vol. 26, nr 3, s. 136-144Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Cancer cachexia has a significant negative effect on quality of life, survival and the response to treatment. Recent in vitro and experimental animal studies have shown that myosin may be the primary target of the muscle wasting associated with cancer cachexia. In this study, we have extended these analyses to detailed studies of regulation of myofibrillar protein synthesis at the gene level, myofibrillar protein expression and regulation of muscle contraction at the muscle cell level in a 63-year old man with a newly diagnosed small cell lung cancer and a rapidly progressing lower extremity muscle wasting and paralysis. A significant preferential loss of the motor protein myosin together with a downregulation of protein synthesis at the transcriptional level was observed in the patient with cancer cachexia. This had a significant negative impact on muscle fiber size as well as maximum force normalized to muscle fiber cross-sectional area (specific tension).

  • 8. Falck, Björn
    et al.
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Sillanpää, Matti
    Neuromuskulaaritaudit2004Inngår i: Lasten neurologia, Kustannus Oy Duodecim, Helsinki , 2004, s. 391-419Kapittel i bok, del av antologi (Annet vitenskapelig)
  • 9. Hackman, P
    et al.
    Juvonen, V
    Sarparanta, J
    Penttinen, M
    Aärimaa, T
    Uusitalo, M
    Auranen, M
    Pihko, H
    Alén, R
    Junes, M
    Lönnqvist, T
    Kalimo, H
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Udd, B
    Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.2005Inngår i: Muscle Nerve, ISSN 0148-639X, Vol. 31, nr 2, s. 199-204Artikkel i tidsskrift (Fagfellevurdert)
  • 10. Harju, Mika
    et al.
    Tuominen, Susanna
    Summanen, Paula
    Viitanen, Matti
    Pöyhönen, Minna
    Nikoskelainen, Eeva
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Kivelä, Tero
    Scanning laser Doppler flowmetry shows reduced retinal capillary blood flow in CADASIL.2004Inngår i: Stroke, ISSN 1524-4628, Vol. 35, nr 11, s. 2449-52Artikkel i tidsskrift (Fagfellevurdert)
  • 11. Harvala, Heli
    et al.
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Bergelson, Jeffrey
    Stanway, Glyn
    Hyypiä, Timo
    Tissue tropism of recombinant coxsackieviruses in an adult mouse model.2005Inngår i: J Gen Virol, ISSN 0022-1317, Vol. 86, nr Pt 7, s. 1897-907Artikkel i tidsskrift (Annet vitenskapelig)
  • 12. Harvala, Heli
    et al.
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Stanway, Glyn
    Hyypiä, Timo
    Pathogenesis of coxsackievirus A9 in mice: role of the viral arginine-glycine-aspartic acid motif.2003Inngår i: J Gen Virol, ISSN 0022-1317, Vol. 84, nr Pt 9, s. 2375-9Artikkel i tidsskrift (Fagfellevurdert)
  • 13. Hägerstrand, Daniel
    et al.
    Smits, Anja
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap, Neurologi.
    Eriksson, Anna
    Sigurdardottir, Sunna
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för onkologi, radiologi och klinisk immunologi.
    Olofsson, Tommie
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Hartman, Magdalena
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Nistér, Monica
    Kalimo, Hannu
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Östman, Arne
    Gene expression analyses of grade II gliomas and identification of rPTPbeta/ as a candidate oligodendroglioma marker2008Inngår i: Neuro-Oncology, ISSN 1522-8517, E-ISSN 1523-5866, Vol. 10, nr 1, s. 2-9Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Grade 11 gliomas are morphologically and clinically heterogeneous tumors for which histopathological typing remains the major tool for clinical classification. To what extent the major histological subtypes-astrocytomas, oligodendrogliomas, and oligoastrocytomas-constitute true biological entities is largely unresolved. Furthermore, morphological classification is often ambiguous and would be facilitated by specific subtype markers. In this study, 23 grade II gliomas were expression-profiled and subjected to hierarchical clustering. All six oligodendrogliomas were grouped together in one of two major clusters; a significant correlation was thus observed between gene expression and histopathological subtype. Supervised analyses were performed to identify genes differentiating oligodendrogliomas from other grade II tumors. In a leave-one-out test using 10 features for classification, 20 out of 23 tumors were correctly classified. Among the most differentially expressed genes was rPT beta/zeta. The expression of the rPTP beta/zeta protein in oligodendrogliomas and astrocytomas was further validated by immunohistochemistry in an independent set of tumors. All 11 oligodendrogliomas of this set displayed strong staining. In contrast, neoplastic astrocytes were mostly negative for rPTP beta/zeta staining. In summary, this study demonstrates a correlation between gene expression pattern and histological subtype in grade 11 gliomas. Furthermore, the results from the immunohistochemical analyses of rPTP beta/zeta expression should prompt further evaluation of this protein as a novel oligodendroglioma marker.

  • 14. Ihalainen, Saara
    et al.
    Soliymani, Rabah
    Iivanainen, Erika
    Mykkänen, Kati
    Sainio, Annele
    Pöyhönen, Minna
    Elenius, Klaus
    Järveläinen, Hannu
    Viitanen, Matti
    Kalimo, Hannu
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Baumann, Marc
    Proteome analysis of cultivated vascular smooth muscle cells from a CADASIL patient2007Inngår i: Molecular medicine (Cambridge, Mass. Print), ISSN 1076-1551, E-ISSN 1528-3658, Vol. 13, nr 5-6, s. 305-314Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a vascular dementing disease caused by mutations in NOTCH3 gene, a majority of which are missense mutations leading to an uneven number of cysteine residues in epidermal growth factor like repeats in the extracellular domain of Notch3 receptor (N3ECD). Disease is characterized by degeneration of vascular smooth muscle cells (VSMC) and accumulation of N3ECD on the VSMCs of small and middle-sized arteries. Recent studies have demonstrated that impairment of Notch3 signaling is not the primary cause of the disease. In the present study we have characterized the protein expression pattern of a unique material of genetically genuine cultured human CADASIL VSMCs by proteomic analysis. We identified 11 differentially expressed proteins, which are involved in protein degradation and folding, contraction of VSMCs and cellular stress. Based on the results the misfolding of Notch3 seems to cause endoplasmic reticulum stress and activation of unfolded protein response leading to increased reactive oxygen species and inhibition of cell proliferation. In addition, upregulation of contractile proteins suggests an alteration in the signalling system of VSMC contraction. The accumulation of the N3ECD on the cell surface possibly upregulates the angiotensin II regulatory feedback loop and thereby enhances the readiness of the cells to respond to angiotensin II stimulation.

  • 15. Ikegaya, H
    et al.
    Heino, J
    Laaksonen, H
    Toivonen, S
    Kalimo, H
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Saukko, P
    Accumulation of plasma proteins in Purkinje cells as an indicator of blood-brain barrier breakdown.2004Inngår i: Forensic Sci Int, ISSN 0379-0738, Vol. 146, nr 2-3, s. 121-4Artikkel i tidsskrift (Fagfellevurdert)
  • 16. Järvelä, Sally
    et al.
    Bragge, Helena
    Paunu, Niina
    Järvelä, Timo
    Paljärvi, Leo
    Kalimo, Hannu
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Helén, Pauli
    Kinnula, Vuokko
    Soini, Ylermi
    Haapasalo, Hannu
    Antioxidant enzymes in oligodendroglial brain tumors: association with proliferation, apoptotic activity and survival2006Inngår i: Journal of Neuro-Oncology, ISSN 0167-594X, E-ISSN 1573-7373, Vol. 77, nr 2, s. 131-40Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Purpose of the study was to investigate the relationship between antioxidant enzyme expression and clinicopathological features in oligodendroglial tumors. The expression of antioxidant enzymes and related proteins (AOEs), manganese superoxide dismutase (MnSOD), thioredoxin (Trx), thioredoxin reductase (TrxR) and gammaglutamylcysteine synthetase catalytic and regulatory subunits (GLCL-C and GLCL-R), was studied in 85 oligodendroglial tumors. The material included 71 primary (43 grade II and 28 grade III) and 14 recurrent (6 grade II and 8 grade III) tumors. Fifty-seven cases were pure oligodendrogliomas and 28 were mixed oligoastrocytomas. Immunoreactivity for MnSOD was found in 89%, Trx in 29%, TrxR in 76%, GLCL-C in 70% and GLCL-R in 68% of cases. Increased Trx expression was associated with higher tumor grade, cell proliferation and apoptosis (P=0.006, P=0.001 and P=0.003, Mann-Whitney test). Pure oligodendrogliomas showed more intense staining than oligoastrocytomas, especially for MnSOD (P=0.002, Mann-Whitney test). In the total series Trx was associated with poor prognosis in univariate survival analysis (P=0.0343, log-rank test) and furthermore in Cox multivariate analysis (P=0.009) along with age (P=0.002). The results suggest that the expression of Trx has a correlation to patient outcome and that there may be some association between AOEs, like MnSOD and Trx, and clinicopathological features of oligodendrogliomas.

  • 17. Järvinen, Tero A H
    et al.
    Järvinen, Teppo L N
    Kääriäinen, Minna
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Järvinen, Markku
    Muscle injuries: biology and treatment.2005Inngår i: Am J Sports Med, ISSN 0363-5465, Vol. 33, nr 5, s. 745-64Artikkel i tidsskrift (Fagfellevurdert)
  • 18.
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Pathology.
    Cerebrovascular Diseases: Pathology&Genetics2005Bok (Annet (populærvitenskap, debatt, mm))
  • 19.
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Does chronic brain edema explain the consequences of cerebral small-vessel disease?2003Inngår i: Stroke, ISSN 1524-4628, Vol. 34, nr 3, s. 806-12Artikkel i tidsskrift (Fagfellevurdert)
  • 20.
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Pathology & Genetics: Cerebrovascular diseases2005Bok (Annet vitenskapelig)
  • 21.
    Kalimo, Hannu
    et al.
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Pathology.
    Kalaria, Raj N.
    Hereditary Forms of Vascular Dementia2005Inngår i: Cerebrovascular Diseases: Pathology&Genetics, ISN Neuropath Press, Basel , 2005, s. 350-Kapittel i bok, del av antologi (Annet vitenskapelig)
  • 22.
    Kalimo, Hannu
    et al.
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Saukko, Pekka
    Graham, David
    Neuropathological examination in forensic context.2004Inngår i: Forensic Sci Int, ISSN 1872-6283, Vol. 146, nr 2-3, s. 73-81Artikkel i tidsskrift (Annet vitenskapelig)
  • 23. Korja, Miikka
    et al.
    Finne, Jukka
    Salmi, Toivo T
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Pathology.
    Karikoski, Riitta
    Tanner, Minna
    Isola, Jorma
    Haapasalo, Hannu
    Chromogenic in situ hybridization-detected hotspot MYCN amplification associates with Ki-67 expression and inversely with nestin expression in neuroblastomas.2005Inngår i: Mod Pathol, ISSN 0893-3952, Vol. 18, nr 12, s. 1599-605Artikkel i tidsskrift (Fagfellevurdert)
  • 24.
    Lord, Anna
    et al.
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för folkhälso- och vårdvetenskap.
    Kalimo, Hannu
    Institutionen för genetik och patologi.
    Eckman, Chris
    Zhang, Xiao-Qun
    Institutionen för genetik och patologi. Institutionen för medicinsk biokemi och mikrobiologi.
    Lannfelt, Lars
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för folkhälso- och vårdvetenskap.
    Nilsson, Lars
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för folkhälso- och vårdvetenskap.
    The Arctic Alzheimer mutation facilitates early intraneuronal Abeta aggregation and senile plaque formation in transgenic mice.2006Inngår i: Neurobiol Aging, ISSN 0197-4580, Vol. 27, nr 1, s. 67-77Artikkel i tidsskrift (Fagfellevurdert)
  • 25. Low, W C
    et al.
    Junna, M
    Börjesson-Hanson, A
    Morris, C M
    Moss, T H
    Stevens, D L
    St Clair, D
    Mizuno, T
    Zhang, W. W.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Mykkänen, K
    Wahlström, J
    Andersen, O
    Kalimo, Hannu
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Viitanen, M
    Kalaria, R N
    Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL2007Inngår i: Brain, ISSN 0006-8950, E-ISSN 1460-2156, Vol. 130, nr Part 2, s. 357-367Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Several hereditary small vessel diseases (SVDs) of the brain have been reported in recent years. In 1977, Sourander and Wålinder described hereditary multi-infarct dementia (MID) in a Swedish family. In the same year, Stevens and colleagues reported chronic familial vascular encephalopathy in an English family bearing a similar phenotype. These disorders have invariably been suggested to be cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) but their genetic identities remain unknown. We used molecular, radiological and neuropathological methods to characterize these disorders. Direct DNA sequencing unexpectedly confirmed that affected members of the English family carried the R141C mutation in the NOTCH3 gene diagnostic of CADASIL. However, we did not detect any pathogenic mutations in the entire 8091 bp reading frame of NOTCH3 or find clear evidence for NOTCH3 gene linkage in the Swedish DNA. This was consistent with the lack of hyperintense signals in the anterior temporal pole and external capsule in Swedish subjects upon magnetic resonance imaging. We further found no evidence for granular osmiophilic material in skin biopsy or post-mortem brain samples of affected members in the Swedish family. In addition, there was distinct lack of NOTCH3 N-terminal fragments in the cerebral microvasculature of the Swedish hereditary MID subjects compared to the intense accumulation in the English family afflicted with CADASIL. Several differences in arteriosclerotic changes in both the grey and white matter were also noted between the disorders. The sclerotic index values, density of collagen IV immunoreactivity in the microvasculature and number of perivascular macrophages were greater in the English CADASIL samples compared to those from the Swedish brains. Multiple approaches suggest that the Swedish family with hereditary MID suspected to be CADASIL has a different novel disorder with dissimilar pathological features and belongs to the growing number of genetically uncharacterized familial SVDs.

  • 26. Lundkvist, Johan
    et al.
    Zhu, Shunwei
    Hansson, Emil M
    Schweinhardt, Petra
    Miao, Qing
    Beatus, Paul
    Dannaeus, Karin
    Karlström, Helena
    Johansson, Clas B
    Viitanen, Matti
    Rozell, Björn
    Spenger, Christian
    Mohammed, Abdul
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Pathology.
    Lendahl, Urban
    Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype.2005Inngår i: Genesis, ISSN 1526-954X, Vol. 41, nr 1, s. 13-22Artikkel i tidsskrift (Fagfellevurdert)
  • 27. Maurage, C A
    et al.
    Udd, B
    Ruchoux, M M
    Vermersch, P
    Kalimo, H
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Pathology.
    Krahe, R
    Delacourte, A
    Sergeant, N
    Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease.2005Inngår i: Neurology, ISSN 1526-632X, Vol. 65, nr 10, s. 1636-8Artikkel i tidsskrift (Fagfellevurdert)
  • 28.
    Melberg, Atle
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Hallberg, Lena
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för onkologi, radiologi och klinisk immunologi, Enheten för radiologi.
    Kalimo, Hannu
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Raininko, Raili
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för onkologi, radiologi och klinisk immunologi, Enheten för radiologi.
    MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms2006Inngår i: American Journal of Neuroradiology, ISSN 0195-6108, E-ISSN 1936-959X, Vol. 27, nr 4, s. 904-11Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    BACKGROUND AND PURPOSE: Three families with adult-onset autosomal dominant leukodystrophy (ADLD) presenting autonomic dysfunction as the first symptom are reported. We describe detailed MR appearances of the brain in 2 new families and neuropathology in 2 patients and compare the findings with those in other adult-onset leukodystrophies. METHODS: Twenty subjects (12 women and 8 men; age range, 29-70 years) from 2 unrelated families with ADLD were examined with MR. Six subjects were asymptomatic. Fourteen had autonomic dysfunction. Eleven of them also had pyramidal signs and ataxia. The brains of 2 autopsied patients were examined histopathologically. RESULTS: Two subjects manifested no neurologic symptoms, signs, or MR pathology. Eighteen subjects displayed radiologic abnormalities ranging from subtle T2 high-signal-intensity changes in the upper corticospinal tract to extensive confluent white matter changes, predominantly in a frontoparietal distribution, along the corticospinal tracts down to the medulla oblongata and in the upper and middle cerebellar peduncles. Periventricular white matter was spared or less affected than the adjacent white matter. Histopathology revealed marked loss of cerebral and cerebellar myelin without signs of inflammation. Oligodendrocytes were relatively spared, the number of axons not markedly decreased, and reactive gliosis was modest. The number of Purkinje cells in the cerebellum was reduced. CONCLUSIONS: Two families with adult-onset ADLD with the disease entity originally reported by Eldridge et al. (N Engl J Med 1984;311:948-53) were described. We propose naming the disease "adult-onset ADLD with autonomic symptoms." The characteristic radiologic findings, combined with the clinical symptoms and mode of inheritance, enable the diagnosis.

  • 29. Miao, Q
    et al.
    Kalimo, H
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Bogdanovic, N
    Kostulas, K
    Börjesson-Hanson, A
    Viitanen, M
    Cerebral arteriolar pathology in a 32-year-old patient with CADASIL.2006Inngår i: Neuropathol Appl Neurobiol, ISSN 0305-1846, Vol. 32, nr 4, s. 455-8Artikkel i tidsskrift (Fagfellevurdert)
  • 30. Miao, Qing
    et al.
    Paloneva, Timo
    Tuisku, Seppo
    Roine, Susanna
    Poyhonen, Minna
    Viitanen, Matti
    Kalimo, Hannu
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Arterioles of the lenticular nucleus in CADASIL2006Inngår i: Stroke, ISSN 0039-2499, E-ISSN 1524-4628, Vol. 37, nr 9, s. 2242-2247Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Background and Purpose-In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) the arteriopathy leads to recurrent infarcts in cerebral white matter (WM) and deep gray matter (GM), whereas cortex is spared. To assess the pathogenesis of deep GM infarcts, we analyzed structural changes in arterioles of the lenticular nucleus (LN) in 6 CADASIL patients.

    Methods-Five elderly and one 32-year-old deceased CADASIL patients were studied. Seven elderly and 4 young deceased persons without cerebrovascular diseases served as controls. In addition to immunohistochemical analysis the external and luminal diameters of arterioles in the LN, cerebral cortex and WM were measured. The thickness of arteriolar wall and sclerotic index were calculated.

    Results-In CADASIL patients, LN arterioles were immunoreactive for the extracellular domain of Notch3 and collagen 1, whereas a-smooth muscle actin staining was irregular or negative. No major leakage of plasma fibrinogen or fibronectin was observed. Although in patients the walls of LN arterioles were significantly thicker than in controls, definite stenosis was not observed. Arteriolar lumina in the LN were not only significantly larger than in the WM, where most lacunar infarcts in CADASIL occur, but also larger than in cortical GM, where infarcts virtually never exist.

    Conclusions-Fibrotic thickening of the arteriolar walls without consequent stenosis occurs in the LN of CADASIL patients. The pathogenesis of lacunar infarcts in the WM and LN seem to be different, stenosis in the former and probably hemodynamic disturbances in the latter.

  • 31. Miao, Qing
    et al.
    Paloneva, Timo
    Tuominen, Susanna
    Pöyhönen, Minna
    Tuisku, Seppo
    Viitanen, Matti
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Fibrosis and stenosis of the long penetrating cerebral arteries: the cause2004Inngår i: Brain Pathol, ISSN 1015-6305, Vol. 14, nr 4, s. 358-64Artikkel i tidsskrift (Fagfellevurdert)
  • 32. Morris, James H.
    et al.
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Viitanen, Matti
    Vascular dementias2004Inngår i: The neuropathology of dementia, Cambridge University Press, Cambridge , 2004, s. 289-329Kapittel i bok, del av antologi (Annet vitenskapelig)
  • 33. Mykkänen, Kati
    et al.
    Savontaus, Marja-Liisa
    Juvonen, Vesa
    Sistonen, Pertti
    Tuisku, Seppo
    Tuominen, Susanna
    Penttinen, Maila
    Lundkvist, Johan
    Viitanen, Matti
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Päyhänen, Minna
    Detection of the founder effect in Finnish CADASIL families.2004Inngår i: Eur J Hum Genet, ISSN 1018-4813, Vol. 12, nr 10, s. 813-9Artikkel i tidsskrift (Fagfellevurdert)
  • 34.
    Qu, Mingqi
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Olofsson, Tommie
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Sigurdardottir, Sunna
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    You, Chao
    Kalimo, Hannu
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Nistér, Monica
    Smits, Anja
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap, Neurologi.
    Ren, Zhi-Ping
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Genetically distinct astrocytic and oligodendroglial components in oligoastrocytomas2007Inngår i: Acta Neuropathologica, ISSN 0001-6322, E-ISSN 1432-0533, Vol. 113, nr 2, s. 129-136Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Oligoastrocytomas are glial tumours consisting of a mixture of neoplastic astrocytic and oligodendroglial cells. Genetic alterations of oligoastrocytomas include loss of heterozygosity of chromosomes 1p and/or 19q (LOH 1p/19q), typically occurring in oligodendrogliomas, and mutations of TP53, frequently occurring in astrocytomas. To investigate whether these neoplastic cell types in oligoastrocytomas have different genetic profiles, we examined the two different components of oligoastrocytomas in comparison with the histological diagnosis of the specific tumour area for LOH 1p/19q and TP53 mutations by using microdissection technique. We found a variety of lost markers for 1p and 19q, and the presence of two different TP53 mutations in the tumour samples. In the majority of cases (9/11), the oligodendroglial and astrocytic components of an individual oligoastrocytoma displayed the same genotype. We present two cases of biphasic oligoastrocytomas with aberrant findings, suggesting the coexistence of genetically and morphologically distinct tumour cell clones in these tumours. In one case, the oligodendroglial part of the tumour showed LOH19q, whereas the astrocytic part showed TP53 mutation (codon 273). In another case, we found LOH 1p/19q in the oligodendroglial component, but two retained areas on chromosome 1p in the astrocytic component of the tumour. No evidence was found for the coexistence of tumour cells with the two genotypical changes within the same morphological region of one individual tumour. The two cases of biphasic oligoastrocytomas in our sample that display a different genotype in the astrocytic and oligodendroglial part of the tumour show that different components of an oligoastrocytoma may be derived from different cell clones during neoplastic transformation.

  • 35. Rapola, Juhani
    et al.
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Morfologiset laboratoriotutkimukset2004Inngår i: Lasten neurologia, Kustannus Oy Duodecim, Helsinki , 2004, s. 611-619Kapittel i bok, del av antologi (Annet vitenskapelig)
  • 36. Roine, S
    et al.
    Pöyhönen, M
    Timonen, S
    Tuisku, S
    Marttila, R
    Sulkava, R
    Kalimo, H
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Viitanen, M
    Neurologic symptoms are common during gestation and puerperium in CADASIL.2005Inngår i: Neurology, ISSN 1526-632X, Vol. 64, nr 8, s. 1441-3Artikkel i tidsskrift (Annet vitenskapelig)
  • 37. Roine, Susanna
    et al.
    Harju, Mika
    Kivelä, Tero T
    Pöyhönen, Minna
    Nikoskelainen, Eeva
    Tuisku, Seppo
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Viitanen, Matti
    Summanen, Paula A
    Ophthalmologic findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a cross-sectional study.2006Inngår i: Ophthalmology, ISSN 1549-4713, Vol. 113, nr 8, s. 1411-7Artikkel i tidsskrift (Fagfellevurdert)
  • 38. Sallinen, R
    et al.
    Vihola, A
    Bachinski, L L
    Huoponen, K
    Haapasalo, H
    Hackman, P
    Zhang, S
    Sirito, M
    Kalimo, H
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Meola, G
    Horelli-Kuitunen, N
    Wessman, M
    Krahe, R
    Udd, B
    New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).2004Inngår i: Neuromuscul Disord, ISSN 0960-8966, Vol. 14, nr 4, s. 274-83Artikkel i tidsskrift (Fagfellevurdert)
  • 39.
    Stenborg, Anna
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper.
    Kalimo, Hannu
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för patologi.
    Viitanen, Matti
    Terént, Andreas
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper.
    Lind, Lars
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper.
    Impaired Endothelial Function of Forearm Resistance Arteries in CADASIL Patients2007Inngår i: Stroke, ISSN 0039-2499, E-ISSN 1524-4628, Vol. 38, nr 10, s. 2692-2697Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Background and Purpose-Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy, which mainly involves the brain causing stroke and dementia. Mice expressing the mutated protein display early dysfunction in vasoreactivity in resistance arteries, but studies of patients have been inconclusive so far. Methods-We examined peripheral endothelium-dependent vasodilatation in 10 CADASIL-patients and 20 controls using 3 methods: venous occlusion plethysmography of forearm blood flow with intraarterial acetylcholine and sodium nitroprusside infusions for evaluation of resistance arteries, ultrasound with flow mediated vasodilatation (FMD) of the brachial artery for evaluation of a conduit artery, and the pulse wave method with measurements before and after terbutaline for evaluation of systemic endothelium-dependent vasodilation. Results-The CADASIL patients displayed reductions in both basal (P=0.034) and stimulated blood flow (P=0.023 for the highest dose of acetylcholine) and an impaired endothelium-dependent vasodilation when investigated in forearm resistance arteries (P=0.019). The FMD and the pulse wave method did not show any reduction in endothelium-dependent vasodilation in the patients. Conclusions-Endothelium-dependent vasodilation was impaired in resistance arteries, but not in a conduit artery, in the forearm of CADASIL patients.

  • 40. Stewart, W
    et al.
    Black, M
    Kalimo, H
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Graham, D I
    Non-traumatic forensic neuropathology.2004Inngår i: Forensic Sci Int, ISSN 0379-0738, Vol. 146, nr 2-3, s. 125-47Artikkel i tidsskrift (Annet vitenskapelig)
  • 41. Tuominen, Susanna
    et al.
    Miao, Qing
    Kurki, Timo
    Tuisku, Seppo
    Pöyhönen, Minna
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi. Patologi/neuropatologi.
    Viitanen, Matti
    Sipilä, Hannu T
    Bergman, Jörgen
    Rinne, Juha O
    Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients.2004Inngår i: Stroke, ISSN 1524-4628, Vol. 35, nr 5, s. 1063-7Artikkel i tidsskrift (Fagfellevurdert)
  • 42. Venojärvi, M
    et al.
    Kvist, M
    Jozsa, L
    Kalimo, H
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Hänninen, O
    Atalay, M
    Skeletal Muscle HSP Expression in Response to Immobilization and Remobilization2007Inngår i: International Journal of Sports Medicine, ISSN 0172-4622, E-ISSN 1439-3964, Vol. 28, nr 4, s. 281-286Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Heat shock proteins play an important regulatory role in the cellular defence. Oxidative stress is one of the factors inducing heat shock protein expression. This study tested the effects of 4 weeks of immobilization and subsequent remobilization on heat shock protein expression and oxidative stress in the lateral gastrocnemius and plantaris muscles of the rat. Active mobilization or free mobilization protocols were used for remobilization. In active mobilization, strenuous uphill treadmill running, twice a day, was started immediately after the immobilization and lasted for six days. Rats in the free mobilization group moved freely in their cages immediately after the immobilization. Expression of heat shock proteins was upregulated during the recovery from immobilization, especially in the lateral gastrocnemius muscle in the active mobilization group. However, markers of oxidative stress, such as protein carbonyls and 4-hydroxynonenal protein adducts, or activities of the antioxidant enzymes glutathione peroxidase and glutathione reductase, did not change after the immobilization and subsequent recovery. In summary, following immobilization, both intensive and spontaneous exercise upregulated the heat shock protein expressions in the lateral gastrocnemius muscle and partly in the plantaris muscle, which may contribute to the recovery from immobilization atrophy.

  • 43. Verkkoniemi, Auli
    et al.
    Ylikoski, Raija
    Rinne, Juha O.
    Somer, Mirja
    Hietaharju, Aki
    Erkinjuntti, Timo
    Viitanen, Matti
    Kalimo, Hannu
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Haltia, Matti
    Neuropsychological functions in variant Alzheimer's disease with spastic paraparesis2004Inngår i: Journal of the Neurological Sciences, ISSN 0022-510X, E-ISSN 1878-5883, Vol. 218, nr 1-2, s. 29-37Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Few data exist on the effects of specific Alzheimer's disease (AD)-related mutations on cognitive function. We present neuropsychological test results in eight members of a large kindred with variant Alzheimer's disease (VarAD) due to a deletion of the presenilin 1 (PS-1) gene, encompassing exon 9. The disease was neuropathologically characterized by the presence of large, unusual, "cotton wool" plaques (CWP). Four surviving patients were prospectively tested, and retrospective neuropsychological data were collected from additional four deceased patients. The neuropsychological evaluation was based on tests of verbal and visual memory, abstract thinking, and visuoconstructive and spatial functions. In addition, psychiatric symptoms were evaluated. In four patients, brain glucose metabolism was examined by positron emission tomography (PET). PET showed temporoparietal hypometabolism typical of AD. In addition, variable patterns of hypometabolism (hemispherical asymmetry and occipital accentuation) were related to individual deficits of cognitive performance. However, all these early-onset patients (age range 43-63 years) with a deletion mutation of PS-1 gene showed prominent memory impairment and deficits in visuoconstructive and intellectual functions.

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