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Atypical Huntington's disease with the clinical presentation of behavioural variant of frontotemporal dementia
Comenius Univ, Dept Neurol, Fac Med, Bratislava, Slovakia..
Slovak Acad Sci, Inst Neuroimmunol, Dubravska 9, Bratislava 84510, Slovakia..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Experimental and Clinical Oncology.
Comenius Univ, Dept Neurol, Fac Med, Bratislava, Slovakia..
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2016 (English)In: Journal of neural transmission, ISSN 0300-9564, E-ISSN 1435-1463, Vol. 123, no 12, p. 1423-1433Article in journal (Refereed) Published
Abstract [en]

Huntington's disease is an incurable, adult-onset, autosomal dominant inherited disorder caused by an expanded trinucleotide repeat (CAG). In this study, we describe a Huntington's disease patient displaying clinical symptoms of the behavioural variant of frontotemporal dementia in the absence of tremor and ataxia. The clinical onset was at the age of 36 years and the disease progressed slowly (18 years). Genetic testing revealed expanded trinucleotide CAG repeats in the Huntingtin gene, together with a Glu318Gly polymorphism in presenilin 1. Neuropathological assessment revealed extensive amyloid beta (A beta) aggregates in all cortical regions. No inclusions displaying hyperphosphorylated tau or phosphorylated transactive response DNA-binding protein 43 (TDP43) were found. A high number of p62 (sequestosome 1) immunopositive intranuclear inclusions were seen mainly in the cortex, while subcortical areas were affected to a lesser extent. Confocal microscopy revealed that the majority of p62 intranuclear lesions co-localised with the fused-in-sarcoma protein (FUS) immunostaining. The morphology of the inclusions resembled intranuclear aggregates in Huntington's disease. The presented proband suffered from Huntington's disease showed atypical distribution of FUS positive intranuclear aggregates in the cortical areas with concomitant Alzheimer's disease pathology.

Place, publisher, year, edition, pages
2016. Vol. 123, no 12, p. 1423-1433
Keywords [en]
Behavioural variant FTD, FUS, Huntingtin, Intranuclear inclusions, Amyloid
National Category
Neurology
Identifiers
URN: urn:nbn:se:uu:diva-311492DOI: 10.1007/s00702-016-1579-5ISI: 000388626300009PubMedID: 27287334OAI: oai:DiVA.org:uu-311492DiVA, id: diva2:1060575
Funder
EU, European Research Council, 26240220046Available from: 2016-12-29 Created: 2016-12-28 Last updated: 2017-11-29Bibliographically approved

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