Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion

Journal of the Neurological Sciences

Volumn 273, Issue 1-2, 2008, Pages 15-18

  Ohnari, Keiko ^a   Aoki, Masashi ^b   Uozumi, Takenori ^a   Tsuji, Sadatoshi ^a  

^a UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

16q ADCA; SCA8

Indexed keywords

INITIATION FACTOR; NERVE PROTEIN; PROTEIN PURATROPHIN 1; PROTEIN SCA6; PROTEIN SCA8; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CEREBELLAR ATAXIA; CHROMOSOME 16Q; CLINICAL FEATURE; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; FAMILY HISTORY; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; MALE; MENTAL DEFICIENCY; MYOCLONUS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PYRAMIDAL SIGN; TREMOR;

ADULT; CEREBELLAR ATAXIA; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; SEVERITY OF ILLNESS INDEX; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 50049131361     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.06.003     Document Type: Article

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