Neurofibrillary tangles in Gerstmann-Straussler-Scheinker syndrome with the A117V prion gene mutation
نویسندگان
چکیده
منابع مشابه
Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation.
One patient of a French family with Gerstmann-Sträussler-Scheinker syndrome with the mutation in codon 117 of the prion protein (PrP) gene displayed unexpected neuritic degeneration around PrP plaques and numerous diffuse neurofibrillary tangles, whereas other members did not. The tau profile in this patient's brain was analysed and compared with one from another member of the Gerstmann-Sträuss...
متن کاملA New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP.
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a genetic prion disease typified clinically by the development of progressive ataxia and dementia, and histopathologically by the presence of prion protein (PrP) amyloid plaques in the CNS, especially within the cerebellum. Several mutations of the PrP gene (PRNP) are associated with GSS, but only the P102L mutation has been convincingly modeled ...
متن کاملA prion disease--possible Gerstmann-Straussler-Scheinker disease: a case report.
A 50-year-old patient with a 6-month history of progressive cognitive and motor disability is presented. There were no myoclonic jerks on examination and no periodic sharp waves by electroencephalography. Imaging showed high signal on T2-weighted scans in the basal ganglia and posterior limbs of the internal capsules, with no restricted diffusion and parenchymal volume loss. A brain biopsy was ...
متن کاملInherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family.
Three members of a family with inherited prion disease are reported. One additional family member had a progressive neurological disease without details. Two developed symptoms of ataxia, dementia, myoclonus, rigidity, and hemiparesis, and one had a different phenotype with the combination of lower motor neuron deficit, parkinsonism, intellectual decline, and ataxia. In this last patient cell l...
متن کاملEarly-onset dementia and extrapyramidal disease: clinicopathological variant of Gerstmann-Straussler-Scheinker or Alzheimer's disease?
A case of progressive dementia and extrapyramidal signs beginning at age 29, with a ten year course until death, is presented. Necropsy examination showed an assortment of plaque types (including striatal plaques), neurofibrillary tangles, granulovacuolar degeneration, and depigmentation of the substantia nigra and locus ceruleus. This case had pathological features found in both Gerstmann-Stra...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1997
ISSN: 0022-3050
DOI: 10.1136/jnnp.63.2.240