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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2003-10-9
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pubmed:abstractText |
We report on a family with ataxia type 6 (SCA6) showing peculiar oculomotor symptoms. The proband presented with periodic alternating nystagmus (PAN), and her 2 brothers had rebound nystagmus and gaze-evoked nystagmus. They carried the identical mutation (the number of expanded CAG repeat, 24) in the CACNA1A gene. The intrafamilial variability of oculomotor symptoms may be ascribed to factors other than CAG repeat expansion size in SCA6.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0885-3185
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2003 Movement Disorder Society
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pubmed:issnType |
Print
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1201-4
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:14534930-Calcium Channels,
pubmed-meshheading:14534930-Cerebellum,
pubmed-meshheading:14534930-DNA Mutational Analysis,
pubmed-meshheading:14534930-Electrooculography,
pubmed-meshheading:14534930-Family Health,
pubmed-meshheading:14534930-Female,
pubmed-meshheading:14534930-Humans,
pubmed-meshheading:14534930-Magnetic Resonance Imaging,
pubmed-meshheading:14534930-Male,
pubmed-meshheading:14534930-Middle Aged,
pubmed-meshheading:14534930-Mutation,
pubmed-meshheading:14534930-Nystagmus, Pathologic,
pubmed-meshheading:14534930-Spinocerebellar Ataxias,
pubmed-meshheading:14534930-Trinucleotide Repeat Expansion
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pubmed:year |
2003
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pubmed:articleTitle |
Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6.
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pubmed:affiliation |
Third Department of Medicine, Shinshu University School of Medicine, Asahi, Matsumoto, Japan. takahhh@hsp.md.shinsu-u.ac.jp
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pubmed:publicationType |
Journal Article,
Case Reports
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