NDLI: Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families

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Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease

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Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families

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Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families

Content Provider	Springer Nature Link
Author	Hira, Ryuki Takashima, Hiroshi Okubo, Ryuichi Tajima, Keiko Okamoto, Yuji Ishida, Shimon Tsuruta, Kazuhito Arisato, Takayo Arata, Hitoshi Nakagawa, Masari Osame, Mitsuhiro Arimura, Kimiyoshi
Copyright Year	2004
Abstract	The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders. To date, at least 11 genes and 13 additional loci have been identified in ADCAs. Despite phenotypic differences, spinocerebellar ataxia 4 (SCA4) and Japanese 16q-linked ADCA type III map to the same region of 16q22.1. We report four Japanese families with pure cerebellar ataxia and a disease locus at 16q22.1. Our families yielded a peak lod score of 6.01 at marker D16S3141. To refine the candidate region, we carried out genetic linkage studies in four pedigrees with a high density set of DNA markers from chromosome 16q22.1. Our linkage data suggest that the disease locus for 16q-ADCA type III is within the 1.25-Mb interval delineated by markers 17msm and CTTT01. We screened for mutations in 36 genes within the critical region. Our critical region lies within the linkage interval reported for SCA4 and for Japanese 16q-ADCA type III. These data suggest that the ADCA that we have characterized is allelic with SCA4 and Japanese 16q-linked ADCA type III.
Starting Page	215
Ending Page	221
Page Count	7
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	5
Issue Number	4
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2004-09-29
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Chromosome 16 Positional cloning 16q-ADCCA Spinocerebellar ataxia 4 Japan
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.

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Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families

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