A case of Gerstmann-Sträussler-Scheinker syndrome (P102L) accompanied by optic atrophy

Clinical Neurology

Volumn 40, Issue 9, 2000, Pages 926-928

  Sugai, F ^a   Nakamori, M ^a   Nakatsuji, Y ^a   Abe, K ^a   Sakoda, S ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Codon 102; Gerstmann Str ussler Scheinker syndrome; Optic atrophy

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CODON; GENE MUTATION; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; VISUAL ACUITY;

GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HUMANS; MALE; MIDDLE AGED; OPTIC ATROPHY; POINT MUTATION; PRIONS;

EID: 0034458582     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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3. A prion protein variant in a family with the telencephalic form of Gerstmann-Sträussler-Scheinker syndrome
4. A rare presenile dementia associated with cortical blindness (Heidenhain's syndrome)
5. Creutzfeldt-Jakob disease and optic atrophy
6. Creutzfeldt-Jakob disease : A case with extensive white matter degeneration and optic atrophy
7. Inflammatory response and retinal ganglion cell degeneration following intraocular injection of ME7
8. The primary structure of the prion protein influences the distribution of abnormal priori protein in the central nervous system