Saadet Sayan1, Dilcan Kotan2, Aslı Gündoğdu-Eken3, Irmak Şahbaz3, Cemile Koçoğlu3, A Nazlı Başak3. 1. Department of Neurology, SB Sakarya University Research and Training Hospital, Sakarya, Turkey. 2. Department of Neurology, Sakarya University Faculty of Medicine, Sakarya, Turkey. 3. Suna and İnan Kıraç Foundation; Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey.
Abstract
INTRODUCTION: Hereditary ataxias are a group of heterogeneous diseases in regard to their clinical and genetic characteristics. Ataxia that progresses slowly may be accompanied by pyramidal and extrapyramidal findings, articulation disorders, ophthalmic movement disorders, neuropathic complaints, cognitive and behavioral abnormalies, and epilepsy. Definitive diagnosis in hereditary ataxias is based on molecular assays. History, clinical examination, laboratory and neuroimaging assist diagnosis. In our study, thirty-seven patients of suspected hereditary ataxia were examined with their clinical and genetic aspects, and the results compared with literature. METHOD: Our study included 37 patients in 22 families who presented to our center between 2010-2016, and whose familial history and phenotypic features indicated hereditary ataxia. The patients were studied for clinical findings, family tree, neuroimaging, and laboratory findings. Advanced genetic investigations were performed on peripheral venous blood samples for hereditary ataxia. RESULTS: Of the 37 patients included in our study, 21 were females and 16 were males. Genetic analyses resulted in spinocerebellar ataxia (SCA) in four families (10 patients), Friedrich ataxia (FA) in three families (eight patients), and recessive ataxia due to point mutation in one family (two patients). SCA subtyping revealed SCA 1, 2, 6 and 8 in our patients. The remaining 16 patients included in our study could not be solved so far and are under investigation. CONCLUSION: Hereditary ataxias are rare neurodegenerative disorders. Large genetic pool, ethnic and local differences complicate diagnosing even further. Our study contributes to the literature by reflecting phenotypic and genotypic characteristics of hereditary SCA patients in our region and reporting rare hereditary ataxia genotypes.
INTRODUCTION: Hereditary ataxias are a group of heterogeneous diseases in regard to their clinical and genetic characteristics. Ataxia that progresses slowly may be accompanied by pyramidal and extrapyramidal findings, articulation disorders, ophthalmic movement disorders, neuropathic complaints, cognitive and behavioral abnormalies, and epilepsy. Definitive diagnosis in hereditary ataxias is based on molecular assays. History, clinical examination, laboratory and neuroimaging assist diagnosis. In our study, thirty-seven patients of suspected hereditary ataxia were examined with their clinical and genetic aspects, and the results compared with literature. METHOD: Our study included 37 patients in 22 families who presented to our center between 2010-2016, and whose familial history and phenotypic features indicated hereditary ataxia. The patients were studied for clinical findings, family tree, neuroimaging, and laboratory findings. Advanced genetic investigations were performed on peripheral venous blood samples for hereditary ataxia. RESULTS: Of the 37 patients included in our study, 21 were females and 16 were males. Genetic analyses resulted in spinocerebellar ataxia (SCA) in four families (10 patients), Friedrich ataxia (FA) in three families (eight patients), and recessive ataxia due to point mutation in one family (two patients). SCA subtyping revealed SCA 1, 2, 6 and 8 in our patients. The remaining 16 patients included in our study could not be solved so far and are under investigation. CONCLUSION: Hereditary ataxias are rare neurodegenerative disorders. Large genetic pool, ethnic and local differences complicate diagnosing even further. Our study contributes to the literature by reflecting phenotypic and genotypic characteristics of hereditary SCA patients in our region and reporting rare hereditary ataxia genotypes.
Authors: Maxime Cadieux-Dion; Maude Turcotte-Gauthier; Anne Noreau; Caroline Martin; Caroline Meloche; Micheline Gravel; Christian Allen Drouin; Guy A Rouleau; Dang Khoa Nguyen; Patrick Cossette Journal: JAMA Neurol Date: 2014-04 Impact factor: 18.302
Authors: Ho Tsoi; Allen C S Yu; Zhefan S Chen; Nelson K N Ng; Anne Y Y Chan; Liz Y P Yuen; Jill M Abrigo; Suk Ying Tsang; Stephen K W Tsui; Tony M F Tong; Ivan F M Lo; Stephen T S Lam; Vincent C T Mok; Lawrence K S Wong; Jacky C K Ngo; Kwok-Fai Lau; Ting-Fung Chan; H Y Edwin Chan Journal: J Med Genet Date: 2014-07-25 Impact factor: 5.941