Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
Articolo
Data di Pubblicazione:
2022
Citazione:
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis / A. Manini, D. Gagliardi, M. Meneri, S. Antognozzi, R. Del Bo, C. Scaglione, G.P. Comi, S. Corti, D. Ronchi. - In: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. - ISSN 2328-9503. - 9:11(2022 Nov), pp. 1820-1825. [10.1002/acn3.51673]
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.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
A. Manini, D. Gagliardi, M. Meneri, S. Antognozzi, R. Del Bo, C. Scaglione, G.P. Comi, S. Corti, D. Ronchi
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