Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia

Journal of Neurology Neurosurgery and Psychiatry

Volumn 68, Issue 3, 2000, Pages 388-

  Taniwaki, Y ^a   Hara, H ^a   Doh Ura, K ^a   Murakami, I ^a   Tashiro, H ^a   Yamasaki, T ^a   Shigeto, H ^a   Arakawa, K ^a   Araki, E ^a   Yamada, T ^a   Iwaki, T ^a   Kira, J ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; PRION PROTEIN; VALINE;

ADULT; ALLELE; BRAIN RADIOGRAPHY; CASE REPORT; CEREBELLAR ATAXIA; CODON; CREUTZFELDT JAKOB DISEASE; DEMENTIA; ELECTROENCEPHALOGRAM; GAIT DISORDER; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; HEREDITARY ATAXIA; HUMAN; INSOMNIA; JAPAN; LETTER; MALE; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SLEEP PATTERN;

AMYLOID; CEREBELLAR ATAXIA; CREUTZFELDT-JAKOB SYNDROME; DIAGNOSIS, DIFFERENTIAL; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PRIONS; PROTEIN PRECURSORS; SLEEP INITIATION AND MAINTENANCE DISORDERS;

EID: 0034096023     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.68.3.388     Document Type: Letter

References (5)