Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia

Journal of Neurology

Volumn 248, Issue 2, 2001, Pages 113-120

  Schelhaas, H J ^a   Ippel, P F ^b   Hageman, G ^a   Sinke, R J ^b   Van Der Laan, E N ^a   Beemer, F A ^b  

^a MEDISCH SPECTRUM TWENTE   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Cognitive impairment; Myoclonus; Spinocerebellar ataxia; Wisconsin Card Sorting Test

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FAMILY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENOTYPE; HUMAN; MALE; MYOCLONUS; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE; PERFORMANCE; PRIORITY JOURNAL; SCHOOL CHILD; TREMOR;

ADULT; AGED; AGED, 80 AND OVER; BRAIN; CEREBELLAR ATAXIA; CHILD; ELECTROPHYSIOLOGY; FAMILY CHARACTERISTICS; HUMANS; LINKAGE (GENETICS); MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; SPINOCEREBELLAR ATAXIAS;

EID: 0035085368     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004150170245     Document Type: Article

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