A patient with Gerstmann-Sträussler-Scheinker syndrome (GSS P102L) presenting high intensity lesions in the cerebral cortex on diffusion weighted MRI

Clinical Neurology

Volumn 46, Issue 4, 2006, Pages 291-293

  Misumi, Youhei ^a   Nishida, Yasuto ^a   Araki, Shukuro ^a  

^a Omuta Tenryo Hospital   (Japan)

Author keywords

Ataxia; Cerebellum; MRI; P102L mutation; Prion disease

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; BRAIN CORTEX; CASE REPORT; CLINICAL FEATURE; DIFFUSION WEIGHTED IMAGING; ELECTROENCEPHALOGRAM; FEMALE; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; SYMPTOMATOLOGY; ATROPHY; CODON; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PRION;

ATROPHY; CEREBRAL CORTEX; CODON; FEMALE; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUTATION; PRIONS;

EID: 33744952275     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. Majenyi C, Brown P, Cervenakova L, et al: A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotyope. Neurology 2000;54:2133-2137
2. Barbanti P, Fabbrini G. Salvatore M, et al: Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation). Neurology 1996;47:734-741
3. Shiga Y, Miyazawa K, Sato S, et al: Diffusion-weighted MRI abnormalities as an early diagnostic marker for Creutzfeldt-Jakob disease. Neurology 2004;63:443-449
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5. Haik S, Dormont D, Faucheux BA, et al: Prion protein deposits match magnetic resonance imaging signal abnormalities in Creutzfeldt-Jakob disease. Ann Neurol 2002; 51:797-799