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Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Molecular and Morphological Pathology.
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2012 (English)In: Acta Neurologica Scandinavica, ISSN 0001-6314, E-ISSN 1600-0404, Vol. 126, no 5, 315-323 p.Article in journal (Refereed) Published
Abstract [en]


Gerstmann-Sträussler-Scheinker syndrome belongs to the genetic prion diseases being associated with mutations in the prion protein gene (PRNP). The most common is the point mutation at codon 102, leading to the substitution of proline to leucine (P102L). Previous reports have indicated a phenotypic heterogeneity among individuals with this mutation. Here, we describe the clinical and pathological phenotype in members of the first Finnish kindred with the P102L mutation in the PNRP gene.


Genetic and clinical information was available in five members of a family, while a systematic histologic and immunohistochemical assessment of the post-mortem brain was carried out in three.


Clinical presentation, disease duration and the clinical phenotype (ataxia vs dementia) varied between patients. There was a significant correlation between clinical symptoms and the neuroanatomical distribution of prion protein-immunoreactive aggregates, i.e. subtentorial predominance in ataxia vs cortical predominance in dementia. A significant concomitant Alzheimer is disease-related pathology was observed in the brain of one patient with dementia as onset symptom.


This is the first Scandinavian family carrying the P102L mutation in the PRNP gene. Gerstmann-Sträussler-Scheinker syndrome should be considered in the differential diagnosis when handling with patients with ataxia and/or dementia of unclear aetiology.

Place, publisher, year, edition, pages
2012. Vol. 126, no 5, 315-323 p.
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Clinical Laboratory Medicine
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URN: urn:nbn:se:uu:diva-171341DOI: 10.1111/j.1600-0404.2011.01628.xISI: 000309400300004PubMedID: 22211828OAI: oai:DiVA.org:uu-171341DiVA: diva2:510629
Available from: 2012-03-17 Created: 2012-03-17 Last updated: 2015-05-25Bibliographically approved

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