Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.
Ann Clin Transl Neurol
; 9(11): 1820-1825, 2022 11.
Article
em En
| MEDLINE
| ID: mdl-36285345
ABSTRACT
HTT full-penetrance pathogenic repeat expansions, the genetic cause of Huntington's disease (HD), have been recently reported in a minority of frontotemporal dementia/amyotrophic lateral sclerosis (ALS) patients (0.13%). We analyzed HTT CAG repeats in an Italian cohort of ALS patients (n = 467) by repeat-primed polymerase chain reaction. One patient harbored two expanded alleles in the HTT gene (42 and 37 CAG repeats). The absence of HD typical symptoms and the clinical picture consistent with ALS, corroborated by the diagnostic assessment, apparently excluded a misdiagnosis of HD.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Huntington
/
Demência Frontotemporal
/
Esclerose Lateral Amiotrófica
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article