Introduction.

Spinocerebellar ataxia constitutes a group of genetic disorders consisting of a progressive degeneration that primarily affects the cerebellum, the brainstem, and the spinal cord, and is variably associated with other neurological symptoms.

Case presentation.

A 60-year-old woman with no relevant medical history, who consulted the service of physiatry due to a clinical picture of two years of evolution consisting of progressive gait disturbance, loss of strength in the lower limbs, tremor in the upper limbs, dysphagia and fatigue. Physical examination revealed mild dysarthria, dysdiadochokinesia, dysmetria, bilateral hypometric saccades, and ataxic gait. A nuclear magnetic resonance imaging (NMR) of the brain was performed, which showed cerebellar atrophy; and the electromyography and nerve conduction study confirmed axonal polyradiculoneuropathy. The molecular genetic testing revealed expansion of an ATTCT pentanucleotide repeat, confirming the diagnosis of cerebellar ataxia type 10 (SCA10).

Multidisciplinary management was initiated, in which physiatry began a plan of neurological rehabilitation, pain management with a neuromodulator and prescription of a walker-type mobility assistance device. The patient improved her independence in activities of daily living: the Barthel index increased from 45 points to 75 after 12 weeks of neurological rehabilitation.

Conclusion.

SCA10 was initially considered as a pure cerebellar ataxia associated with seizures; however, in recent years the identification of new families with this disorder has revealed more diverse phenotypes, including polyneuropathy, pyramidal signs, and cognitive and neuropsychiatric impairment. A case of late-onset SCA10 (over 50 years of age), which could be the first sporadic case reported in Colombia is described here.

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