Academic Journal
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
| العنوان: | Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p |
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| المؤلفون: | IODICE, CARLA, Mantuano, E, Veneziano, L, Trettel, F, Sabbadini, G, Calandriello, L, Francia, A, Spadaro, M, Pierelli, F, Salvi, F, Ophoff, RA, Frants, RR, Frontali, M. |
| المساهمون: | Iodice, C, Mantuano, E, Veneziano, L, Trettel, F, Sabbadini, G, Calandriello, L, Francia, A, Spadaro, M, Pierelli, F, Salvi, F, Ophoff, R, Frants, R, Frontali, M |
| بيانات النشر: | GB Oxford University Press |
| سنة النشر: | 1997 |
| المجموعة: | Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca |
| مصطلحات موضوعية: | Settore BIO/18 - GENETICA, Settore MED/03 - GENETICA MEDICA |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | volume:6; firstpage:1973; lastpage:1978; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2108/35797 |
| DOI: | 10.1093/hmg/6.11.1973 |
| الاتاحة: | http://hdl.handle.net/2108/35797 https://doi.org/10.1093/hmg/6.11.1973 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.B3631907 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/hmg/6.11.1973 |
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