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Gerstmannova-Sträusslerova-Scheinkerova choroba

  1. Subject h.Gerstmannova-Sträusslerova-Scheinkerova choroba
    Subject h.Gerstmann-Straussler-Scheinker Disease
    Entry termsencefalopatia cerebelárna spongiformná chronická
    Gerstmannov-Sträusslerov syndróm
    English X referencesGerstmann-Straussler Syndrome
    Scope note in EnglishAn autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)
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