Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy
نویسندگان
چکیده
منابع مشابه
Familial progressive supranuclear palsy.
A progressive extrapyramidal syndrome and dementia occurred in three members of one family. The age of onset was in the seventh decade and the affected individuals showed many of the clinical features of progressive supranuclear palsy (PSP). Necropsy of one individual revealed the neuropathological features of PSP. We propose that this family has a familial form of PSP and review the evidence i...
متن کاملClinical genetics of familial progressive supranuclear palsy.
Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and the spectrum of the clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology in four probands, with familial PSP. Pathological diagnosis was confirmed according to recently reported internationally agreed criteria. The spectrum of the ...
متن کاملFamilial progressive supranuclear palsy: a literature review.
BACKGROUND Many genes/loci associated with Parkinsonian disorders have been identified. However, the genetic causes for a number of familial forms of Parkinsonian disorders remain to be elucidated. OBJECTIVE It was the aim of this paper to review the familial progressive supranuclear palsy (PSP) cases without any known gene mutations published in the English literature. METHODS We searched ...
متن کاملSequence analysis of tau in familial and sporadic progressive supranuclear palsy.
Progressive supranuclear palsy (PSP) is a tau deposition neurodegenerative disorder which usually occurs in sporadic form and is associated with a common variant of the tau gene. Rare familial forms of PSP have been described. Recently familial frontotemporal dementia linked to chromosome 17 (FTDP-17) has been shown to be due to mutations in tau and there may be a clinical and pathological over...
متن کاملProgressive Supranuclear Palsy (PSP)
Introduction: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder producing characteristic eye movement abnormalities in the classic presentation. The disease pathologically is marked by accumulation of abnormal tau proteins. There are useful MRI features, however the diagnosis remains clinical in the majority of cases, and no objective diagnostic test exists. Treatment at...
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ژورنال
عنوان ژورنال: Neurology
سال: 2013
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e318294b2eb