Abstract
We analysed the CACNA1A gene, located on chromosome 19p13, in three unrelated families and one sporadic case with episodic ataxia type 2 (EA-2). In two of the families and the sporadic patient, novel truncating mutations, which disrupt the reading frame and result in a premature stop of the CACNA1A protein, were identified in exons 14, 16 and 26. In the remaining family, a novel missense mutation (H253Y) was found. Of the twenty two EA-2 mutations identified thus far, including those of the present study, seventeen are truncating mutations and five are missense mutations, all resulting in an EA-2 clinical phenotype.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amino Acid Sequence / genetics
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Calcium Channels / deficiency*
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Calcium Channels / genetics*
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Calcium Channels, P-Type / deficiency*
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Calcium Channels, P-Type / genetics*
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Cerebellum / metabolism*
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Cerebellum / pathology
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Cerebellum / physiopathology
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Chromosome Mapping
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Chromosomes, Human, Pair 19 / genetics
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DNA Mutational Analysis
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Exons / genetics
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Female
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Genetic Testing
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Histidine / genetics
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Humans
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Male
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Middle Aged
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Mutation, Missense / genetics*
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Pedigree
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Protein Structure, Tertiary / genetics
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Spinocerebellar Degenerations / genetics*
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Spinocerebellar Degenerations / metabolism
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Spinocerebellar Degenerations / physiopathology
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Trinucleotide Repeat Expansion / genetics
Substances
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CACNA1A protein, human
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Calcium Channels
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Calcium Channels, P-Type
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Histidine