A Case of Spinocerebellar Ataxia Type 2 Presented with Symptoms of Parkinsonism
Sevda ERER ÖZBEK,1 Aygül GÜNEŞ,1 Mehmet ZARİFOĞLU,1Aslı GÜNDOĞDU EKEN,2 A. Nazlı BAŞAK2
1Uludağ Üniversitesi Tıp Fakültesi Nöroloji Anabilim Dalı, Bursa, Türkiye
2Boğaziçi Üniversitesi, Moleküler Biyoloji ve Genetik Bölümü, Nörodejenerasyon Araştırma Laboratuvarı (NDAL), İstanbul, Türkiye
Keywords: Parkinsonism; peripheral nerve involvement; spinocerebellar ataxia.
Abstract
Spinocerebellar ataxia type 2 (SCA-2) is characterized by ataxia, dysarthria, ophthalmoplegia and peripheral nerve involvement with signs of extrapyramidal system disorders in late clinical stages. Even though rarely, parkinsonism-predominant cases of SCA-2 without cerebellar symptoms are also described. In this presentation, a 60-year-old male patient, whose symptoms began at the age of 45 with difficulty in speaking and progressed two years later with parkinsonism-predominant symptoms like slowness of movement, difficulty in walking, burning sensation on the hands and feet and diagnosed with SCA-2 that responded well to L-dopa is discussed in the light of the current literature. We also pointed out that a differential diagnosis should be made between SCA’s and familial parkinsonism in Parkinson’s disease patients with positive family history of SCA and importance of genetic study to determine clinical subtypes of SCA.