Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients
Background: Frontotemporal lobar degeneration (FTLD) is a genetically complex disorder. The majority of mutations linked to FTLD families are found in the microtubule‐associated protein tau ( MAPT ) and progranulin ( PGRN ) genes. Mutations in the chromatin‐modifying protein 2B gene ( CHMP2B ) have...
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crwiley:10.1111/j.1468-1331.2010.03028.x 2024-06-02T08:12:02+00:00 Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients Kaivorinne, A.‐L. Krüger, J. Udd, B. Majamaa, K. Remes, A. M. 2010 http://dx.doi.org/10.1111/j.1468-1331.2010.03028.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1468-1331.2010.03028.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1468-1331.2010.03028.x en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor European Journal of Neurology volume 17, issue 11, page 1393-1395 ISSN 1351-5101 1468-1331 journal-article 2010 crwiley https://doi.org/10.1111/j.1468-1331.2010.03028.x 2024-05-03T11:54:29Z Background: Frontotemporal lobar degeneration (FTLD) is a genetically complex disorder. The majority of mutations linked to FTLD families are found in the microtubule‐associated protein tau ( MAPT ) and progranulin ( PGRN ) genes. Mutations in the chromatin‐modifying protein 2B gene ( CHMP2B ) have been identified in a few families. However, CHMP2B has been showed to be a rare cause of FTLD. Our aim was to determine the frequency of CHMP2B mutations in a clinical series of patients with FTLD in Northern Finland. Patients and methods: We examined 72 (36 men) Finnish patients with FTLD . The mean age at onset was 58.9 (range 43–80). Symptoms of motor neuron disease (FTLD‐MND) were present in 12 patients (17%). Positive family history was detected in 28% of the patients. Mutations in MAPT and PGRN were excluded from these patients. All exons and exon–intron boundaries of the CHMP2B gene were sequenced. Results: No pathogenic CHMP2B mutations were found. A rare polymorphism in the non‐coding region of exon 1 (rs36098294) and three other previously reported polymorphisms were detected. Conclusions: Our results confirm that mutations in CHMP2B are not a common cause of FTLD. MAPT and PGRN mutations are also rare in Finnish population, suggesting that other, still unknown genetic factors may play a role in the pathogenesis of FTLD in Finnish population. Article in Journal/Newspaper Northern Finland Wiley Online Library European Journal of Neurology 17 11 1393 1395 |
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Wiley Online Library |
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Background: Frontotemporal lobar degeneration (FTLD) is a genetically complex disorder. The majority of mutations linked to FTLD families are found in the microtubule‐associated protein tau ( MAPT ) and progranulin ( PGRN ) genes. Mutations in the chromatin‐modifying protein 2B gene ( CHMP2B ) have been identified in a few families. However, CHMP2B has been showed to be a rare cause of FTLD. Our aim was to determine the frequency of CHMP2B mutations in a clinical series of patients with FTLD in Northern Finland. Patients and methods: We examined 72 (36 men) Finnish patients with FTLD . The mean age at onset was 58.9 (range 43–80). Symptoms of motor neuron disease (FTLD‐MND) were present in 12 patients (17%). Positive family history was detected in 28% of the patients. Mutations in MAPT and PGRN were excluded from these patients. All exons and exon–intron boundaries of the CHMP2B gene were sequenced. Results: No pathogenic CHMP2B mutations were found. A rare polymorphism in the non‐coding region of exon 1 (rs36098294) and three other previously reported polymorphisms were detected. Conclusions: Our results confirm that mutations in CHMP2B are not a common cause of FTLD. MAPT and PGRN mutations are also rare in Finnish population, suggesting that other, still unknown genetic factors may play a role in the pathogenesis of FTLD in Finnish population. |
format |
Article in Journal/Newspaper |
author |
Kaivorinne, A.‐L. Krüger, J. Udd, B. Majamaa, K. Remes, A. M. |
spellingShingle |
Kaivorinne, A.‐L. Krüger, J. Udd, B. Majamaa, K. Remes, A. M. Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients |
author_facet |
Kaivorinne, A.‐L. Krüger, J. Udd, B. Majamaa, K. Remes, A. M. |
author_sort |
Kaivorinne, A.‐L. |
title |
Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients |
title_short |
Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients |
title_full |
Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients |
title_fullStr |
Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients |
title_full_unstemmed |
Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients |
title_sort |
mutations in chmp2b are not a cause of frontotemporal lobar degeneration in finnish patients |
publisher |
Wiley |
publishDate |
2010 |
url |
http://dx.doi.org/10.1111/j.1468-1331.2010.03028.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1468-1331.2010.03028.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1468-1331.2010.03028.x |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_source |
European Journal of Neurology volume 17, issue 11, page 1393-1395 ISSN 1351-5101 1468-1331 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1111/j.1468-1331.2010.03028.x |
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European Journal of Neurology |
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17 |
container_issue |
11 |
container_start_page |
1393 |
op_container_end_page |
1395 |
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1800758347824103424 |