Type 28 spinocerebellar ataxia

We present a case of rare autosomal dominant spinocerebellar ataxia type 28 caused by a heterozygous mutation of the <i>AFG3L2</i> gene (SCA 28, SCA-AFG3L2, OMIM: 610246). The clinical presentation included a combination of visual and oculomotor disorders, extrapyramidal syndrome, epilepsy, and cerebellar ataxia. Female proband, 21 years old, 2 years of observation of the patient. Severe myopia has been reported since childhood. The disease manifested at the age of 14 with hand tremor and oculomotor disorders. Symptoms progressed over 5 years with an increase in oculomotor disorders, tremor, hypokinesia, cervical dystonia, left hand dystonia, elements of cerebellar ataxia, and the onset of epilepsy. Her parents were divorced; no data on the father was available; the family history was not reported until the relationship was restored. The proband's father and half-sister have similar symptoms, according to the proband (not medically confirmed by the authors). The patient was followed up for a long time with a diagnosis of a functional disorder of the nervous system. Type 28 spinocerebellar ataxia was diagnosed at the age of 19 years. Complete genome sequencing was performed; a heterozygous mutation c.838C >T (p.Arg280Trp) in the AFG3L2 gene was detected, and the mutation was confirmed using Sanger method. Direct Sanger sequencing was performed for the proband's father, and a similar mutation in the heterozygous state was confirmed. The proband's healthy mother had no such mutation. Segregation of these mutations in the family by the autosomal dominant type was found. The patient received levodopa 1250 mg/day, lamotrigine 400 mg/day, lacosamide 200 mg/day, as well as botulinum therapy for the muscles of the neck and left hand. Tremor and hypokinesia responded to levodopa. Sporadic epileptic seizures persist. The patient is socialized and studies at a higher educational institution.