Phenotypic and genotypic features of patients diagnosed with ALS in the city of Sakarya, Turkey
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ORIGINAL ARTICLE
Phenotypic and genotypic features of patients diagnosed with ALS in the city of Sakarya, Turkey Dilcan Kotan1 · Zeynep Özözen Ayas2 · Ceren Tunca3 · Belma Dogan Gungen4 · Fulya Akçimen5 · A. Nazlı Başak3 Received: 25 April 2020 / Accepted: 7 July 2020 © Belgian Neurological Society 2020
Abstract Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease leading to motor neuron damage. In this study, the clinical, demographic, and genetic features of ALS patients in the city of Sakarya, Turkey, were investigated. Patients with an established diagnosis of ALS according to the Awaji criteria were included. Age, sex, age at onset of ALS, initial complaints, consanguineous marriage, and genetic features were retrospectively investigated. Conventional genetic analysis and NGS were used for molecular evaluation of patients. A total of 55 probands (10 familial, 45 sporadic) in whom ALS was suspected due to their phenotypic features were included. Thirty-two patients were male (58.2%), and 23 were female (41.8%); their mean ages were 62.65 ± 13 years. The mean age of onset for 37 familial patients from 10 families was 49.9 years. Two cases had juvenile-onset. Fourteen (25.5%) bulbar-onset versus 40 (72.7%) limb-onset patients were detected; one patient had both. Six (10.9%) patients showed marked frontotemporal dementia. Twenty-nine (52.7%) patients died during the follow-up period. Genetic analysis identified causative variants in eleven cases, carrying variants in six different ALS genes (C9orf72, SOD1, VCP, SPG11, TBK1, and SH3TC2). Genetic investigations have revealed more than 40 genes to be involved in the pathogenesis of ALS. Our relatively small study cohort restricted to one province of Turkey, however, prone to migration, consists of 10/55 familial ALS cases, which harbor two rare (SH3TC2-p.Met523Thr and TBK1-p.Glu643del) and two novel (SPG11-p.Lys656Valfs*11 and VCP-p.Arg191Pro) mutations contributing to the literature. Keywords Amyotrophic lateral sclerosis · Familial · Sporadic · Genetic analysis · Sakarya district · Turkey
Introduction Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons in the cortex, brain stem, and spinal cord. The prevalence of ALS ranged * Zeynep Özözen Ayas [email protected] 1
Department of Neurology, Sakarya University Faculty of Medicine, Sakarya, Turkey
2
Department of Neurology, Eskişehir City Hospital, Eskişehir, Turkey
3
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), KUTTAM, Koç University School of Medicine, İstanbul, Turkey
4
Department of Neurology, İstinye University Hospital, İstanbul, Turkey
5
Department of Molecular Biology and Genetics, Neurodegeneration Research Laboratory (NDAL), Boğaziçi University, İstanbul, Turkey
from 1.07–11.31 per 100.000 in meta-analysis of twentysix different studies [1]. Most of study suggested a slightly increasing prevalence of ALS over years [2, 3]. The prevalence of ALS appears to vary between
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