E-ISSN 1309-4866
Research Article
Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey
1 Department of Neurology, SB Sakarya University Research and Training Hospital, Sakarya, Turkey  
2 Department of Neurology, Sakarya University School of Medicine, Sakarya, Turkey  
3 Department of Molecular Biology and Genetic, Boğaziçi University, İstanbul, Turkey  
Arch Neuropsychiatry ; : -
DOI: 10.5152/npa.2017.20525
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Key Words: Hereditary ataxia, genotype, phenotype, spinocerebellar ataxia, Friedrich’s ataxia MRE-11 gene

Introduction: Hereditary ataxias are a group of heterogeneous diseases with regard to 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 disorders 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 that suspected hereditary ataxia were examined with their clinical and genetic aspects and the results compared with literature.


Methods: Our study included 37 patients who presented to our center in 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 (ten patients), Friedrich ataxia (FA) in three families (eight patient, one is carrier), and recessive ataxia due to point mutation in one family (two patients). SCA subtyping was SCA 1, 2, 6 and 8 in our patients. The remaining 16 patients included in our study could not be phenotyped following the genetic analysis.



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.

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Latest Update: 29.12.2017