A case of Gerstmann-Sträussler-Scheinker syndrome (GSS) with late onset - A haplotype analysis of Glu219Lys' polymorphism in PrP gene

Clinical Neurology

Volumn 41, Issue 6, 2001, Pages 318-321

  Takase, K I ^a   Furuya, H ^a   Murai, H ^a   Yamada, T ^a   Oh Yagi, Y ^a   Dob Ura, K ^a   Iwaki, T ^a   Tobimatsu, S ^a   Kira, J I ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

Gerstmann Str ussler Scheinker syndrome (GSS); Late onset; Polymorphism; Posterior column of spinal cord; Prion disease

Indexed keywords

AGED; AREFLEXIA; ARTICLE; ATAXIA; CASE REPORT; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; MALE; MENTAL DETERIORATION; ONSET AGE; SENSORY DYSFUNCTION;

AGED; EVOKED POTENTIALS, SOMATOSENSORY; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HAPLOTYPES; HUMANS; MALE; POLYMORPHISM, GENETIC; PRIONS;

EID: 0035663940     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Involvement of the spinal posterior horn in Gerstmann-Sträussler-Scheinker disease (PrP P102L)
2. CJD discrepancy
3. Creutzfeldt-Jakob disease with codon 129 polymorphism (valine): A comparative study of patients with codon 102 point mutation or without mutations
4. New variant prion protein in a Japanese family with Gerstmann-Sträussler syndrome
5. A Japanese family with a variant of Gerstmann-Sträussler-Scheinker disease
6. Analyses of Gerstmann-Sträussler syndrome with 102Leu219Lys using monoclonal antibodies that specifically detect human prion protein with 219Glu
7. A prion protein missense variant is integrated in kuru plaque cores in patients with Gerstmann-Sträussler syndrome
8. Prion propagation in mice expressing human and chimeric PrP transgenes implicates the interaction of cellular PrP with another protein
9. NMR structures of three single-residue variants of the human prion protein
10. Protective prion protein polymorphisms against sporadic Creutzfeldt-Jakob disease