Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
11
|
| pubmed:dateCreated |
1998-1-2
|
| pubmed:abstractText |
Point mutations of the CACNA1A gene coding for the alpha 1A voltage-dependent calcium channel subunit are responsible for familial hemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). In addition, expansions of the CAG repeat motif at the 3' end of the gene, smaller than those responsible for dynamic mutation disorders, were found in patients with a progressive spinocerebellar ataxia, named SCA6. In the present work, the analysis of two new families with small CAG expansions of the CACNA1A gene is presented. In one family, with a clinical diagnosis of EA2, a CAG23 repeat allele segregated in patients showing different interictal symptoms, ranging from nystagmus only to severe progressive cerebellar ataxia. No additional mutations in coding and intron-exon junction sequences in disequilibrium with the CAG expansion were found. In the second family, initially classified as autosomal dominant cerebellar ataxia of unknown type, an inter-generational allele size change showed that a CAG20 allele was associated with an EA2 phenotype and a CAG25 allele with progressive cerebellar ataxia. These results show that EA2 and SCA6 are the same disorder with a high phenotypic variability, at least partly related to the number of repeats, and suggest that the small expansions may not be as stable as previously reported. A refinement of the coding and intron-exon junction sequences of the CACNA1A gene is also provided.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
|
| pubmed:issn |
0964-6906
|
| pubmed:author |
pubmed-author:CalandrielloLL,
pubmed-author:FrancisWW,
pubmed-author:FrantsR RRR,
pubmed-author:FrontaliMM,
pubmed-author:JodiceCC,
pubmed-author:MantuanoEE,
pubmed-author:OphoffR ARA,
pubmed-author:PierelliFF,
pubmed-author:SabbadiniGG,
pubmed-author:SalviFF,
pubmed-author:SpadaroMM,
pubmed-author:TrettelFF,
pubmed-author:VenezianoLL
|
| pubmed:issnType |
Print
|
| pubmed:volume |
6
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1973-8
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9302278-Adolescent,
pubmed-meshheading:9302278-Adult,
pubmed-meshheading:9302278-Aged,
pubmed-meshheading:9302278-Aged, 80 and over,
pubmed-meshheading:9302278-Alleles,
pubmed-meshheading:9302278-Calcium Channels,
pubmed-meshheading:9302278-Cerebellar Ataxia,
pubmed-meshheading:9302278-Chromosomes, Human, Pair 19,
pubmed-meshheading:9302278-Exons,
pubmed-meshheading:9302278-Female,
pubmed-meshheading:9302278-Humans,
pubmed-meshheading:9302278-Introns,
pubmed-meshheading:9302278-Male,
pubmed-meshheading:9302278-Middle Aged,
pubmed-meshheading:9302278-Mutation,
pubmed-meshheading:9302278-Pedigree,
pubmed-meshheading:9302278-Phenotype,
pubmed-meshheading:9302278-Spinocerebellar Degenerations,
pubmed-meshheading:9302278-Trinucleotide Repeats
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
|
| pubmed:affiliation |
Dipartimento di Biologia, Università di Tor Vergata, Rome, Italy.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|