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Article

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

Annals of clinical and translational neurology - 1 Nov 2022

Manini Arianna, Gagliardi Delia, Meneri Megi, Antognozzi Sara, Del Bo Roberto, Scaglione Cesa, Comi Giacomo Pietro, Corti Stefania, Ronchi Dario

Abstract excerpt

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...

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Identifiers

PMID: 36285345
DOI: 10.1002/acn3.51673
PMCID: PMC9639631

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