Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis

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)...

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Detalles Bibliográficos
Autores principales: Manini, Arianna, Gagliardi, Delia, Meneri, Megi, Antognozzi, Sara, Del Bo, Roberto, Scaglione, Cesa, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9639631/
https://www.ncbi.nlm.nih.gov/pubmed/36285345
http://dx.doi.org/10.1002/acn3.51673
Descripción
Sumario: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.

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