دورية أكاديمية
Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration.
| العنوان: | Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration. |
|---|---|
| المؤلفون: | Kaivorinne AL; Department of Neurology, Institute of Clinical Medicine, University of Oulu, Kuopio, Finland ; Clinical Research Center, Oulu University Hospital, Kuopio, Finland., Bode MK, Paavola L, Tuominen H, Kallio M, Renton AE, Traynor BJ, Moilanen V, Remes AM |
| المصدر: | Dementia and geriatric cognitive disorders extra [Dement Geriatr Cogn Dis Extra] 2013 Aug 20; Vol. 3 (1), pp. 251-62. Date of Electronic Publication: 2013 Aug 20 (Print Publication: 2013). |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Karger Country of Publication: Switzerland NLM ID: 101564825 Publication Model: eCollection Cited Medium: Print ISSN: 1664-5464 (Print) Linking ISSN: 16645464 NLM ISO Abbreviation: Dement Geriatr Cogn Dis Extra Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel : Karger |
| مستخلص: | Background: The most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) has been linked to a hexanucleotide repeat expansion in the C9ORF72 gene. The frequency of the C9ORF72 expansion in Finland is among the highest in the world. Methods: We assessed 73 Finnish patients with FTLD in order to examine the clinical characteristics associated with the expanded C9ORF72. Demographic and clinical features were evaluated. As a potential disease modifier, the apolipoprotein E (APOE) genotype was also assessed. Neuropathological analysis was available on 2 expansion carriers and 1 non-carrier. Results: The C9ORF72 expansion was present in 20 of 70 (29%) probands. Significant associations with the C9ORF72 expansion were observed for concomitant ALS and positive family history of dementia or ALS. Psychoses were detected in both carriers and non-carriers (21 vs. 10%, p = 0.25). The APOE ε4 allele did not cluster among expansion carriers. Numerous p62-positive neuronal inclusions were detected in the cerebellar cortex of the 2 expansion carriers. Conclusion: In line with the suggested C9ORF72 core phenotype, we also detected a high frequency of neuropsychiatric symptoms; however, these symptoms seem not be specific to C9ORF72-associated FTLD. FTLD should be considered in cases of middle-age-onset psychosis. |
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| معلومات مُعتمدة: | Z01 AG000949 United States Intramural NIH HHS |
| فهرسة مساهمة: | Keywords: Association study; Clinical features; Frontotemporal dementia; Frontotemporal lobar degeneration; Genetics |
| تواريخ الأحداث: | Date Created: 20130921 Date Completed: 20130920 Latest Revision: 20220316 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC3776392 |
| DOI: | 10.1159/000351859 |
| PMID: | 24052799 |
| قاعدة البيانات: | MEDLINE |
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