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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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
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author Manini, Arianna
Gagliardi, Delia
Meneri, Megi
Antognozzi, Sara
Del Bo, Roberto
Scaglione, Cesa
Comi, Giacomo Pietro
Corti, Stefania
Ronchi, Dario
author_facet Manini, Arianna
Gagliardi, Delia
Meneri, Megi
Antognozzi, Sara
Del Bo, Roberto
Scaglione, Cesa
Comi, Giacomo Pietro
Corti, Stefania
Ronchi, Dario
author_sort Manini, Arianna
collection PubMed
description 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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spelling pubmed-96396312022-11-14 Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis Manini, Arianna Gagliardi, Delia Meneri, Megi Antognozzi, Sara Del Bo, Roberto Scaglione, Cesa Comi, Giacomo Pietro Corti, Stefania Ronchi, Dario Ann Clin Transl Neurol Brief Communications 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. John Wiley and Sons Inc. 2022-10-25 /pmc/articles/PMC9639631/ /pubmed/36285345 http://dx.doi.org/10.1002/acn3.51673 Text en © 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Manini, Arianna
Gagliardi, Delia
Meneri, Megi
Antognozzi, Sara
Del Bo, Roberto
Scaglione, Cesa
Comi, Giacomo Pietro
Corti, Stefania
Ronchi, Dario
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
title Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
title_full Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
title_fullStr Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
title_full_unstemmed Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
title_short Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
title_sort analysis of htt cag repeat expansion in italian patients with amyotrophic lateral sclerosis
topic Brief Communications
url 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
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