Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-11-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.51673 |
| _version_ | 1828311295714131968 |
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| author | Arianna Manini Delia Gagliardi Megi Meneri Sara Antognozzi Roberto Del Bo Cesa Scaglione Giacomo Pietro Comi Stefania Corti Dario Ronchi |
| author_facet | Arianna Manini Delia Gagliardi Megi Meneri Sara Antognozzi Roberto Del Bo Cesa Scaglione Giacomo Pietro Comi Stefania Corti Dario Ronchi |
| author_sort | Arianna Manini |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T15:56:35Z |
| format | Article |
| id | doaj.art-bc9639f5a0664260a87dcd1dd3d1540f |
| institution | Directory Open Access Journal |
| issn | 2328-9503 |
| language | English |
| last_indexed | 2024-04-13T15:56:35Z |
| publishDate | 2022-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Clinical and Translational Neurology |
| spelling | doaj.art-bc9639f5a0664260a87dcd1dd3d1540f2022-12-22T02:40:40ZengWileyAnnals of Clinical and Translational Neurology2328-95032022-11-019111820182510.1002/acn3.51673Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosisArianna Manini0Delia Gagliardi1Megi Meneri2Sara Antognozzi3Roberto Del Bo4Cesa Scaglione5Giacomo Pietro Comi6Stefania Corti7Dario Ronchi8Dino Ferrari Center, Department of Pathophysiology and Transplantation University of Milan Milan ItalyDino Ferrari Center, Department of Pathophysiology and Transplantation University of Milan Milan ItalyDino Ferrari Center, Department of Pathophysiology and Transplantation University of Milan Milan ItalyDino Ferrari Center, Department of Pathophysiology and Transplantation University of Milan Milan ItalyDino Ferrari Center, Department of Pathophysiology and Transplantation University of Milan Milan ItalyIRCCS Istituto delle Scienze Neurologiche di Bologna Bologna ItalyDino Ferrari Center, Department of Pathophysiology and Transplantation University of Milan Milan ItalyDino Ferrari Center, Department of Pathophysiology and Transplantation University of Milan Milan ItalyDino Ferrari Center, Department of Pathophysiology and Transplantation University of Milan Milan ItalyAbstract 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.https://doi.org/10.1002/acn3.51673 |
| spellingShingle | Arianna Manini Delia Gagliardi Megi Meneri Sara Antognozzi Roberto Del Bo Cesa Scaglione Giacomo Pietro Comi Stefania Corti Dario Ronchi Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis Annals of Clinical and Translational Neurology |
| 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 |
| url | https://doi.org/10.1002/acn3.51673 |
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