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Lack of C9orf72 Repeat Expansion in Taiwanese Patients with Mixed Neurodegenerative Disorders
Background: The hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is recognized as the most common genetic cause of frontotemporal dementia (FTD). There are overlapping clinical and pathological characteristics between FTD and Parkinsonism syndrome, and some FTD patients may present wi...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2014
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009437/ https://www.ncbi.nlm.nih.gov/pubmed/24803912 http://dx.doi.org/10.3389/fneur.2014.00059 |
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author | Lin, Chin-Hsien Chen, Ta-Fu Chiu, Ming-Jang Lin, Han-I Wu, Ruey-Meei |
author_facet | Lin, Chin-Hsien Chen, Ta-Fu Chiu, Ming-Jang Lin, Han-I Wu, Ruey-Meei |
author_sort | Lin, Chin-Hsien |
collection | PubMed |
description | Background: The hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is recognized as the most common genetic cause of frontotemporal dementia (FTD). There are overlapping clinical and pathological characteristics between FTD and Parkinsonism syndrome, and some FTD patients may present with Parkinsonism. The aim of this study was to analyze the hexanucleotide repeat numbers of C9orf72 gene in a mixed Taiwanese cohort with FTD, Parkinsonism syndrome, Parkinson’s disease (PD), and Alzheimer’s dementia (AD). Method: The number of hexanucleotide repeats was estimated in a total of 482 patients with mixed neurodegenerative disorders and 485 control subjects, using a two-step repeat-primed polymerase chain reaction-based genotyping strategy. The individual groups of patients included patients with Parkinsonism syndrome (n = 95), familial PD (n = 109), young-onset PD (n = 201), FTD (n = 9), sporadic AD (n = 61), and early-onset AD (n = 7). Results: We did not identify any pathogenic repeats (>30 repeats) of C9orf72 in either the patients or control subjects. However, we found one young-onset PD patient and one control subject that each had an intermediate number of repeats (25 and 21 repeats, respectively). The clinical phenotype of the young-onset PD in this patient was similar to typical idiopathic PD without additional features, and the patient responded well to levodopa treatment. Conclusion: The repeat expansion in C9orf72 is not a common cause of PD, Parkinsonism syndrome, or dementia in our population. Further studies are needed to investigate the clinical and biological significance of intermediate repeats in C9orf72. |
format | Online Article Text |
id | pubmed-4009437 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-40094372014-05-06 Lack of C9orf72 Repeat Expansion in Taiwanese Patients with Mixed Neurodegenerative Disorders Lin, Chin-Hsien Chen, Ta-Fu Chiu, Ming-Jang Lin, Han-I Wu, Ruey-Meei Front Neurol Neuroscience Background: The hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is recognized as the most common genetic cause of frontotemporal dementia (FTD). There are overlapping clinical and pathological characteristics between FTD and Parkinsonism syndrome, and some FTD patients may present with Parkinsonism. The aim of this study was to analyze the hexanucleotide repeat numbers of C9orf72 gene in a mixed Taiwanese cohort with FTD, Parkinsonism syndrome, Parkinson’s disease (PD), and Alzheimer’s dementia (AD). Method: The number of hexanucleotide repeats was estimated in a total of 482 patients with mixed neurodegenerative disorders and 485 control subjects, using a two-step repeat-primed polymerase chain reaction-based genotyping strategy. The individual groups of patients included patients with Parkinsonism syndrome (n = 95), familial PD (n = 109), young-onset PD (n = 201), FTD (n = 9), sporadic AD (n = 61), and early-onset AD (n = 7). Results: We did not identify any pathogenic repeats (>30 repeats) of C9orf72 in either the patients or control subjects. However, we found one young-onset PD patient and one control subject that each had an intermediate number of repeats (25 and 21 repeats, respectively). The clinical phenotype of the young-onset PD in this patient was similar to typical idiopathic PD without additional features, and the patient responded well to levodopa treatment. Conclusion: The repeat expansion in C9orf72 is not a common cause of PD, Parkinsonism syndrome, or dementia in our population. Further studies are needed to investigate the clinical and biological significance of intermediate repeats in C9orf72. Frontiers Media S.A. 2014-04-28 /pmc/articles/PMC4009437/ /pubmed/24803912 http://dx.doi.org/10.3389/fneur.2014.00059 Text en Copyright © 2014 Lin, Chen, Chiu, Lin and Wu. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neuroscience Lin, Chin-Hsien Chen, Ta-Fu Chiu, Ming-Jang Lin, Han-I Wu, Ruey-Meei Lack of C9orf72 Repeat Expansion in Taiwanese Patients with Mixed Neurodegenerative Disorders |
title | Lack of C9orf72 Repeat Expansion in Taiwanese Patients with Mixed Neurodegenerative Disorders |
title_full | Lack of C9orf72 Repeat Expansion in Taiwanese Patients with Mixed Neurodegenerative Disorders |
title_fullStr | Lack of C9orf72 Repeat Expansion in Taiwanese Patients with Mixed Neurodegenerative Disorders |
title_full_unstemmed | Lack of C9orf72 Repeat Expansion in Taiwanese Patients with Mixed Neurodegenerative Disorders |
title_short | Lack of C9orf72 Repeat Expansion in Taiwanese Patients with Mixed Neurodegenerative Disorders |
title_sort | lack of c9orf72 repeat expansion in taiwanese patients with mixed neurodegenerative disorders |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009437/ https://www.ncbi.nlm.nih.gov/pubmed/24803912 http://dx.doi.org/10.3389/fneur.2014.00059 |
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