A distinct phenotype of leg hyperreflexia in a Japanese family with Gerstmann-Sträussler-Scheinker Syndrome (P102L)

Internal Medicine

Volumn 49, Issue 4, 2010, Pages 339-342

  Takazawa, Takanori ^a   Ikeda, Ken ^a   Ito, Hirono ^a   Aoyagi, Joe ^a   Nakamura, Yoshikazu ^a   Miura, Ken ^a   Iwamoto, Konosuke ^a   Kano, Osamu ^a   Kawabe, Kiyokazu ^a   Iwasaki, Yasuo ^a  

^a TOHO UNIVERSITY OMORI MEDICAL CENTER   (Japan)

Author keywords

Gerstmann str ussler scheinker syndrome; Leg hyperreflexia; P102L; Phenotypic heterogeneity; PRNP

Indexed keywords

GENOMIC DNA;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; DNA POLYMORPHISM; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; HYPERREFLEXIA; JAPANESE; LEG HYPERREFLEXIA; MUSCLE STRETCHING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PHENOTYPE; PRNP GENE;

ADULT; AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; CEREBELLAR ATAXIA; DEMENTIA; FEMALE; GAIT DISORDERS, NEUROLOGIC; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HUMANS; JAPAN; LEG; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; PHENOTYPE; REFLEX, ABNORMAL;

EID: 77749331296     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.49.2864     Document Type: Article

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