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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2005-8-23
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pubmed:abstractText |
Presented is the new kindred with autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 (16q-ADCA type III) associated with progressive hearing loss. By haplotype analysis, the critical interval was slightly narrowed to three megabase regions between GATA01 and D16S3095. Neuropathologic study of 16q-ADCA type III demonstrated characteristic shrinkage of Purkinje cell bodies surrounded by synaptophysin-immunoreactive amorphous material containing calbindin- and ubiquitin-positive granules.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:ArinamiTT,
pubmed-author:GomyodaMM,
pubmed-author:IshidoYY,
pubmed-author:IshikawaKK,
pubmed-author:KitamuraKK,
pubmed-author:KondoII,
pubmed-author:MizusawaHH,
pubmed-author:NoguchiEE,
pubmed-author:NoguchiYY,
pubmed-author:OwadaKK,
pubmed-author:TasKK,
pubmed-author:TorpTT
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pubmed:issnType |
Electronic
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pubmed:day |
23
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pubmed:volume |
65
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
629-32
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16116133-Adolescent,
pubmed-meshheading:16116133-Adult,
pubmed-meshheading:16116133-Age of Onset,
pubmed-meshheading:16116133-Aged,
pubmed-meshheading:16116133-Aged, 80 and over,
pubmed-meshheading:16116133-Cerebellar Ataxia,
pubmed-meshheading:16116133-Child,
pubmed-meshheading:16116133-Chromosome Disorders,
pubmed-meshheading:16116133-Chromosome Mapping,
pubmed-meshheading:16116133-Chromosomes, Human, Pair 16,
pubmed-meshheading:16116133-Cochlea,
pubmed-meshheading:16116133-DNA Mutational Analysis,
pubmed-meshheading:16116133-Disease Progression,
pubmed-meshheading:16116133-Female,
pubmed-meshheading:16116133-Gait Ataxia,
pubmed-meshheading:16116133-Genes, Dominant,
pubmed-meshheading:16116133-Genetic Markers,
pubmed-meshheading:16116133-Genetic Predisposition to Disease,
pubmed-meshheading:16116133-Genetic Testing,
pubmed-meshheading:16116133-Hearing Loss,
pubmed-meshheading:16116133-Humans,
pubmed-meshheading:16116133-Japan,
pubmed-meshheading:16116133-Male,
pubmed-meshheading:16116133-Middle Aged,
pubmed-meshheading:16116133-Pedigree,
pubmed-meshheading:16116133-Purkinje Cells
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pubmed:year |
2005
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pubmed:articleTitle |
A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III.
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pubmed:affiliation |
Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Tokyo, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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