Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients
Article first published online: 20 APR 2010
© 2010 The Author(s). Journal compilation © 2010 EFNS
European Journal of Neurology
Volume 17, Issue 11, pages 1393–1395, November 2010
How to Cite
Kaivorinne, A.-L., Krüger, J., Udd, B., Majamaa, K. and Remes, A. M. (2010), Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients. European Journal of Neurology, 17: 1393–1395. doi: 10.1111/j.1468-1331.2010.03028.x
- Issue published online: 20 APR 2010
- Article first published online: 20 APR 2010
- Received 11 November 2009 Accepted 9 March 2010
- chromatin-modifying protein 2B gene;
- frontotemporal lobar degeneration;
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.