Spinocerebellar ataxia with a novel chromosomal defect: del 5q34 — A case report

Spinocerebellar ataxias (SCA) are inherited through autosomal dominant, autosomal recessive, and X-linked patterns, and may be seen sporadically (1-4). Cerebellar findings are the main clinical characteristics of SCA. Pyramidal findings, polyneuropathy and involvement of dorsal columns and other neuroanatomic structures may also be seen (1-4). Case A 19-year-old male was admitted to our department with a 3-year history of gait disturbances. He was one of 4 children from a nonconsanguineous marriage. He stated that his cousin had been followed up with the same diagnosis by our clinic (Figure 1). Physical examination revealed pes planus and left-curved scoliosis (Figures 2,3). Neurological examination showed titubation in the head, and nystagmus with rapid phase in the direction of the gaze. Fundoscopic examinations were normal. In addition, there were dysarthric speech, bilateral dysmetria and dysdiadochokinesis in the upper and lower limbs, an ataxic gait (he could walk only with support), moderately and severely reduced vibration sense in the upper and lower limbs, respectively, and loss of position sense in the lower extremities. The romberg sign was positive. Stocking-like hypoesthesic was detected. Deep tendon reflexes (DTRs) were absent in all extremities. The Babinski sign was bilaterally indifferent. Motor power in all extremities was normal. In laboratory examinations, complete blood count, blood biochemistry, oral glucose tolerance, hormonal screening, lactic and pyruvic acid, vitamin B12 and folic acid levels were normal. Electrocardiography and echocardiography were not significant. Abdominal an