An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia.
Neurology
; 54(2): 491-3, 2000 Jan 25.
Article
en En
| MEDLINE
| ID: mdl-10668721
ABSTRACT
In spinocerebellar ataxia type 2 (SCA-2), a difference of three CAG repeats distinguishes normal alleles (14 to 31 repeats) from pathogenic alleles (34 to 57 repeats). All sequenced pathogenic alleles have a pure CAG repeat structure, whereas interrupted repeats have been seen exclusively in normal alleles. The authors present two patients with sporadic SCA with an interrupted 34-CAG repeat allele, (CAG)24(CAA)(CAG)9, who showed a phenotype compatible with SCA-2. The interrupted allele coding for a 34 pure polyglutamine tract may cause the SCA phenotype.
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Bases de datos:
MEDLINE
Asunto principal:
Proteínas
/
Repeticiones de Trinucleótidos
/
Ataxias Espinocerebelosas
Límite:
Aged
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Año:
2000
Tipo del documento:
Article
País de afiliación:
Italia