Spinocerebellar ataxia type 2 in a Turkish family(Olgu Sunumu)
İnce Günal, Dilek
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Spinocerebellar ataxias are classified according to the clinical signs, affected neuroanatomical regions and genetic features. Spinocerebellar ataxia type II (SCA 2) is characterized by gait and limb ataxia, dysarthria, ophtalmoplegia, and polyneuropathy . Extrapyramidal system signs and dementia are observed at late clinical stages. SCA 2 is caused by an expanded (CAG) trinucleotide repeat on the chromosome 12 resulting in production of abnormal protein called ataxin-2. We will report a family in which three generations were affected by SCA 2. Gait ataxia was the first symptom in all cases, followed by dysarthria and ophtalmoplegia respectively. None of the patients had extrapyramidal signs or cognitive decline. Axonal polyneuropathy was established with EMG in one patient and brain MRI showed pure cerebellar atrophy in all patients. An autosomal dominant cerebellary ataxia was the preliminary diagnosis on the virtue of family history, neurological examination and laboratory and scaning technics. Genetic studies disclosed a mutation on the SCA 2 locus. Spinocerebellary ataxias are a group of disorders which are classified according to associating clinical signs and symptoms.Therefore it’s important to establish an accurate clinical classification as it will lead to a clue for the discovery of new gene locuses.