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Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients
Author(s) -
Kaivorinne A.L.,
Krüger J.,
Udd B.,
Majamaa K.,
Remes A. M.
Publication year - 2010
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2010.03028.x
Subject(s) - frontotemporal lobar degeneration , exon , medicine , genetics , frontotemporal dementia , population , gene , disease , pathology , biology , dementia , environmental health
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.