title: A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.
abstract: OBJECTIVE
  To characterize a distinct form of autosomal dominant cerebellar ataxia (ADCA) clinically and genetically.
  
  
  BACKGROUND
  ADCAs are a clinically, pathologically, and genetically heterogeneous group of neurodegenerative disorders. Nine responsible genes have been identified for SCA-1, -2, -3, -6, -7, -8, -10, and -12 and dentatorubral-pallidoluysian atrophy (DRPLA). Loci for SCA-4, -5, -11, -13, and -14 have been mapped.
  
  
  METHODS
  The authors studied a four-generation Japanese family with ADCA. The 19 members were enrolled in this study. The authors performed the mutation analysis by PCR and a genome-wide linkage analysis.
  
  
  RESULTS
  Nine members (five men and four women) were affected. The ages at onset ranged from 20 to 66 years. All affected members showed pure cerebellar ataxia, and three patients also had head tremor. Head MRI demonstrated cerebellar atrophy without brain stem involvement. The mutation analysis by PCR excluded diagnoses of SCA-1, -2, -3, -6, -7, -8, and -12 and DRPLA. The linkage analysis suggested linkage to a locus on chromosome 8q22.1-24.1, with the highest two-point lod score at D8S1804 (Z = 3.06 at theta = 0.0). The flanking markers D8S270 and D8S1720 defined a candidate region of an approximately 37.6-cM interval. This candidate region was different from the loci for SCA-4, -5, -10, -11, -13, and -14.
  
  
  CONCLUSIONS
  The family studied had a genetically novel type of SCA (SCA-16).
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Miyoshi
authors.forename: T
authors.initials: T
authors.lastname: Yamada
authors.forename: M
authors.initials: M
authors.lastname: Tanimura
authors.forename: T
authors.initials: T
authors.lastname: Taniwaki
authors.forename: K
authors.initials: K
authors.lastname: Arakawa
authors.forename: Y
authors.initials: Y
authors.lastname: Ohyagi
authors.forename: H
authors.initials: H
authors.lastname: Furuya
authors.forename: K
authors.initials: K
authors.lastname: Yamamoto
authors.forename: K
authors.initials: K
authors.lastname: Sakai
authors.forename: T
authors.initials: T
authors.lastname: Sasazuki
authors.forename: J
authors.initials: J
authors.lastname: Kira
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005819:Genetic Markers