The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

Benomar, Ali; Krols, Luc; Stevanin, Giovanni; Cancel, Géraldine; LeGuern, Eric; David, Gilles; Ouhabi, H.; Martin, Jean‐Jacques; Dürr, Alexandra; Zaim, A.; Ravisé, N; Busque, Céline; Penet, Christiane; Regemorter, N. Van; Weissenbach, Jean; Yahyaoui, M.; Chkili, T.; Agid, Yves; Broeckhoven, Christine Van; Brice, Alexis

doi:10.1038/ng0595-84

Cited by 137 publications

(73 citation statements)

References 18 publications

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“…Two recombinations in a previously unlinked family (II:5 in Fig. 2 and not shown) place the disease locus centromeric to marker D3S1300, which is in agreement with previous observations (Benomar et al 1995). The recombination in individual III:3 (Fig 2) would place the disease locus telomeric to GENOME RESEARCH @ 967…”

Section: Disease Gene Localizationsupporting

confidence: 78%

“…If so, the gene would reside in the 1.8-cM region between markers D3S1300 and D3S1312, narrowing the candidate region from previous reports (Benomar et al 1995;Gouw et al 1995;. It remains possible that two 180-bp repeats from different genomic loci segregated from individual II:l, only one of which is disease-specific.…”

Section: Disease Gene Localizationmentioning

confidence: 99%

“…SCA7 maps to chromosome 3p14-21.1 and is characterized by genetic anticipation including both a younger age of onset and a more severe phenotype in successive generations of a given family (Benomar et al 1995;Gouw et al 1995;. In Machado-Joseph disease (MJD/SCA3; Kawaguchi et al 1994) and spinocerebellar ataxia type 1 (SCA1; Orr et al 1993) anticipation correlates with expanded CAG re-peats within the coding region of the respective genes.…”

Section: ~mentioning

confidence: 99%

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An expanded CAG repeat sequence in spinocerebellar ataxia type 7.

Lindblad¹,

Savontaus²,

Stevanin³

et al. 1996

Genome Res.

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Expanded CAG repeat sequences have been identified in the coding region of genes mutated in several neurodegenerative disorders, including spinocerebellar ataxia type 1 and Machado-Joseph disease. In all disorders described to date the CAG expansion codes for an elongated polyglutamine chain. An increased polyglutamine chain size leads to a more severe disease, thus correlating with the genetic anticipation seen in repeat expansion disorders. Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant spinocerebellar ataxia with anticipation and a progressive degeneration of the cerebellar cortex. Using repeat expansion detection (RED), a method in which a thermostable ligase is used to detect repeat expansions directly from genomic DNA, we have analyzed 8 SCA7 families for the presence of CAG repeat expansions. RED products of 150-240 bp were found in all affected individuals and found to cosegregate with the disease (P < 0.000001, n = 66), indicating strongly that a CAG expansion is the cause of SCA7. On the basis of a previously established correlation between RED product sizes and actual repeat sizes in Machado-Joseph disease, we were able to estimate the average expansion size in SCA7 to be 64 CAG copies.

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Section: Disease Gene Localizationsupporting

confidence: 78%

Section: Disease Gene Localizationmentioning

confidence: 99%

Section: ~mentioning

confidence: 99%

See 1 more Smart Citation

An expanded CAG repeat sequence in spinocerebellar ataxia type 7.

Lindblad¹,

Savontaus²,

Stevanin³

et al. 1996

Genome Res.

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“…76 Genes are located on chromosomes 6p22-p23 (SCA1), 77,78 12q23-24.1 (SCA2), 79 14q13.1 (SCA3/Machado-Joseph disease, 80,81 16q24-ter (SCA4), 82 11 (SCA5), 83 and 3p12-p21.1 (SCA7). [84][85][86] For SCA1, 2, 3, and 7 the disease-causing mutations have been identified as expanded and unstable CAG trinucleotide repeats. [87][88][89][90][91][92] For SCA4 and 5 the disease-causing genes are still to be identified.…”

Section: Spinocerebellar Ataxia6 and The P/q Type Calcium Channel α 1mentioning

confidence: 99%

Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies

Terwindt

Ophoff²,

Haan

et al. 1998

Eur J Hum Genet

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Clinical and genetic heterogeneity as well as influence of environmental factors have hampered identification of the genetic factors which are involved in episodic diseases such as migraine, episodic ataxia and epilepsy. The study of rare, but clearly genetically determined subtypes, may help to unravel the pathogenesis of the more common forms. Recently, different types of mutation in the brain-specific P/Q type calcium channel α 1A subunit gene (CACNA1A) on chromosome 19p13 were shown to be involved in three human disorders: familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA2), and chronic spinocerebellar ataxia type 6 (SCA6). In addition, evidence is accumulating that the same gene is also involved in the common forms of migraine with and without aura. In the tottering and leaner mouse, which are characterised by epilepsy and ataxia, similar mutations were identified in the mouse homologue of the calcium channel α 1A subunit gene. These findings add to the growing list of episodic (and now also chronic) neurological disorders, which are caused by inherited abnormalities of voltage-dependent ion channels. The findings in migraine illustrate that rare, but monogenic variants of a disorder, may be successfully used to identify candidate genes for the more common, but genetically more complex, forms.

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“…9 SCA7 is a minor mutation that accounts for 5 to 12% of ADCA, 8,10,11 but is found in a wide variety of countries and in patients of many ethnic origins. 7,[12][13][14][15][16][17][18] We describe here a new intragenic polymorphism of the SCA7 gene (G 3145 TG/A 3145 TG). It has been analysed in combination with the haplotypes of closely linked microsatellite markers in a large series of families with SCA7.…”

Section: Introductionmentioning

confidence: 99%