Predisposing chromosome for spinocerebellar ataxia type 6 [SCA6] in Japanese

Yamagata University, Ямагата, Yamagata, Japan
Journal of Medical Genetics (Impact Factor: 6.34). 06/2001; 38(5):328-33. DOI: 10.1136/jmg.38.5.328
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Available from: Ituro Inoue, Mar 18, 2014
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    • "We found a known polymorphism (nt 2369 G A) in exon 16 in 9 patients. Many studies identified other polymorphisms in the coding region of FHM loci in the patients with migraine, a number of them with significant difference[143034] and some others without significant differences compare with control.[3536] "
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    ABSTRACT: There are contrary results about the role of CACNA1A gene in the causation of common migraine in different populations. However, migraine may be genetically heterogeneous and more studies in different families and populations are required for a definite conclusion. The aim of this study was to surveyed leukocyte genomic DNA mutation of CACNA1A in Iranian migraine patients with [MA] and without aura [MO] who has family history of migraine and we performed a narrative review of all studies that evaluated CACNA1A gene, non-hemiplegic migraine [MA and MO] and FHM [familial hemiplegic migraine]. The 30 patients with family history of migraine were selected for mutations analysis for CACNA1A gene by PCR method. For review, we searched MEDLINE-PUBMED, ISI, Scopus and Cochrane databases up to December 2012. Mutation analysis of the 4 exons of the CACNA1A gene in these patients revealed no mutations in this gene. Direct sequencing revealed a polymorphism previously reported G to A transition in the exon 16 [nt2369, G→A] in 9 patients. In review, the correlation of FHM loci [CACNA1A gene] with MA and MO has been showed in different population and only small population from Caucasians presented this correlation. CACNA1A is most likely not a major susceptibility gene for common migraine in Iranian maigrainous. It's essential to study more on larger series and covering all 47 exons of the CACNA1A gene to confirm this hypothesis.
    Full-text · Article · Mar 2013 · Journal of research in medical sciences
    • "In one research in Japan, polymorphism was found in 15/30 patients in exon 16 (nt 2369, Thr 698) but no mutations identified in any of the 12 exons among 30 patients in Japanese families. Indeed, many studies presented other polymorphisms both significant[18] and non-significant difference[1920] than control in the coding region of FHM loci in the migrainous patients. "
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    ABSTRACT: Migraine is a common neurological disorder with a significant genetic component. Less information is known about the contribution of minor genetic variations, such as single nucleotide polymorphism (SNP) on the migraine process. In the present study, we aim to investigate the role of CACNA1A gene polymorphism on severity and related factors in family positive migraine patients. We included 74 common migraine patients consequently. Headache severity was evaluated according to Headache Impact Test (HIT6) questionnaire and quality of life of patients was investigated according to MSQ (Migraine-Specific Quality of Life Questionnaire v2.1) questionnaire. Thirty patients with positive family history of migraine were selected and sequencing analysis after DNA extraction was performed. Direct sequencing revealed a known SNP G to A transition in the exon 16 (nt2369, G → A) in 9 patients. There was no significantly correlation between polymorphism and type of migraine, severity, frequency, duration and quality of life in family positive migraine. Evaluated migraine severity by HIT6 questioner couldn't act as a risk factor for this polymorphism (OR: 0.93, CI%95 0.82-1.06 P = 0.3). In Iranian population no significant association was seen between Thr698Thr (nt2369) polymorphism and head pain severity in familial migraine. Confirmation of this hypothesis needs further investigation.
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