دورية أكاديمية
Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients.
| العنوان: | Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients. |
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| المؤلفون: | Kaivorinne AL; Department of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland., Krüger J, Udd B, Majamaa K, Remes AM |
| المصدر: | European journal of neurology [Eur J Neurol] 2010 Nov; Vol. 17 (11), pp. 1393-5. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2014- > : Oxford : Wiley Original Publication: Oxford ; New York : Rapid Communications, [1994- |
| مواضيع طبية MeSH: | Endosomal Sorting Complexes Required for Transport/*genetics , Frontotemporal Lobar Degeneration/*etiology , Frontotemporal Lobar Degeneration/*genetics , Mutation/*genetics , Nerve Tissue Proteins/*genetics, Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; DNA Mutational Analysis/methods ; Female ; Finland ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic/genetics |
| مستخلص: | 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. |
| المشرفين على المادة: | 0 (CHMP2B protein, human) 0 (Endosomal Sorting Complexes Required for Transport) 0 (Nerve Tissue Proteins) |
| تواريخ الأحداث: | Date Created: 20100424 Date Completed: 20110217 Latest Revision: 20151113 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1111/j.1468-1331.2010.03028.x |
| PMID: | 20412296 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1468-1331 |
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| DOI: | 10.1111/j.1468-1331.2010.03028.x |