Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia

Article Abstract:

Familial hemiplegic migraine (HM) is an autosomal dominant type of migraine associated with aura and associated with mild permanent cerebellar ataxia (PCA) in 20% of the families in which it occurs. Sixteen families and 3 nonfamilial case HM/PCA patients were screened for specific CACNA1A mutations. Nine families and one nonfamilial case had the same T666M calcium channel CACNA1A gene mutation and no CAG repeat expansion. In one family one new mutation was found (D715E). T666M and D715E substitutions were both not found in 12 probands belonging to pure HM families whose migraine seems to be linked to CACNA1A. It seems T666M came from recurring mutational events. The PCA in 20% of the HM families may be from specific pathophysiologic mechanisms.

Cerebellar ataxia, Physiological aspects, Gene mutations, Gene mutation, Migraine

---

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome

Article Abstract:

Novel mutations that cause autosomal recessive Alport syndrome, which is autosomal recessive and a progressive hematuric glomerulonephritis involving glomerular basement membrane abnormalities, and determination of the COL4A4 gene structure are discussed. A glycine-to-alanine substitution in the collagenous domain that seems to be silent in the heterozygous carriers was found in 11.5% of control subjects and one control was homozygous for the glycine substitution.

Statistical Data Included, Abnormalities, Eye, Glomerulonephritis, Eye abnormalities, Alport's syndrome

---

Similar abstracts:

• Abstracts: Identification of specific chemoattractants and genetic complementation of a Borrelia burgdorferi chemotaxis mutant: Flow cytometry-based capillary tube chemotaxis assay
• Abstracts: Control of male sexual behavior and sexual orientation in Drosophila by the fruitless gene. The regulation of the Drosophila msl-2 gene reveals a function for sex-lethal in translational control
• Abstracts: Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations
• Abstracts: Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation
• Abstracts: OA1 (ital) mutations and deletions in X-linked ocular albinism. Autosomal dominant nanophthalmos (NNO1 (ital)) with high hyperopia and angle-closure glaucoma maps to chromosome 11

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.