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 (FTLDMND) 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.
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 (FTLDMND) 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.
Authors: Anna-Lotta Kaivorinne; Michaela K Bode; Liisa Paavola; Hannu Tuominen; Mika Kallio; Alan E Renton; Bryan J Traynor; Virpi Moilanen; Anne M Remes Journal: Dement Geriatr Cogn Dis Extra Date: 2013-08-20
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Authors: Helmi Soppela; Kasper Katisko; Yasmine Gadola; Johanna Krüger; Päivi Hartikainen; Antonella Alberici; Alberto Benussi; Anne Koivisto; Annakaisa Haapasalo; Anne M Remes; Barbara Borroni; Eino Solje Journal: Ann Clin Transl Neurol Date: 2022-06-29 Impact factor: 5.430
Authors: Kasper Katisko; Nadine Huber; Tarja Kokkola; Päivi Hartikainen; Johanna Krüger; Anna-Leena Heikkinen; Veera Paananen; Ville Leinonen; Ville E Korhonen; Seppo Helisalmi; Sanna-Kaisa Herukka; Valentina Cantoni; Yasmine Gadola; Silvana Archetti; Anne M Remes; Annakaisa Haapasalo; Barbara Borroni; Eino Solje Journal: Alzheimers Res Ther Date: 2022-10-11 Impact factor: 8.823