A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis

Clinical Neurology and Neurosurgery

Volumn 111, Issue 7, 2009, Pages 606-609

  Iwasaki, Yasushi ^a   Kizawa, Mayuki ^b   Hori, Norio ^b   Kitamoto, Tetsuyuki ^c   Sobue, Gen ^b  

^a Oyamada Memorial Spa Hospital   (Japan)

^b NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Division of CJD Science and Technology   (Japan)

Author keywords

Ataxia; Cerebellar atrophy; Codon 105; Extrapyramidal sign; Gerstmann Str ussler Scheinker syndrome; Prion protein gene

Indexed keywords

LEUCINE; PRION PROTEIN; PROLINE;

ADULT; ARTICLE; ATAXIA; BRADYKINESIA; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL FEATURE; CODON; DISEASE COURSE; DYSARTHRIA; EXTRAPYRAMIDAL SYMPTOM; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; HUMAN; JAPANESE; MALE; MEMORY DISORDER; NEUROLOGIC EXAMINATION; PHENOTYPE; PRP GENE; SPASTIC PARAPLEGIA; TREMOR;

ADULT; ATAXIA; ATROPHY; BASAL GANGLIA DISEASES; CEREBRAL VENTRICLES; GAIT; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; PARAPARESIS, SPASTIC; PHENOTYPE; PRIONS;

EID: 67650438395     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2009.03.008     Document Type: Article

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