期刊
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
卷 9, 期 11, 页码 1820-1825出版社
WILEY
DOI: 10.1002/acn3.51673
关键词
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资金
- Italian Ministry of Health (Ministero della Salute)
- Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico Grant Ricerca Corrente 2020
- Associazione Centro Dino Ferrari
Recent studies have found that full-penetrance pathogenic repeat expansions of the HTT gene exist in a minority of frontotemporal dementia/amyotrophic lateral sclerosis (ALS) patients. In an analysis of ALS patients in Italy, one patient was found to have two expanded alleles of the HTT gene. This patient did not exhibit typical symptoms of Huntington's disease (HD) and had a clinical presentation consistent with ALS, ruling out a misdiagnosis of HD.
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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