Objective: We studied neurological signs in cases with SCA2 for early diagnosis.

Background: SCA2 is a classification of hereditary ataxia, however, patients with SCA2 have been found to show various neurological signs including movement disorders or muscle atrophy in addition to ataxia. We studied the incidence and the times of movement disorders in cases with SCA2.

Methods: We studied three families with SCA2 in the Ehime area in Japan on clinical signs, the course of the disorder, the brain MRI examination, 123I-meta-iodobenzylguanzylguanidine (MIBG) myocardial scintigraphy and (123I)-FP-CIT SPECT (DAT SPECT).

Results: Three cases from family M were studied. One case developed parkinsonism showing tremor and bradykinesia at the age of 39 at first. The second case developed bradykinesia at the age of 47 at first and showed ataxia 11 years later. The third case did not develop parkinsonism, but muscle weakness similar to motor neuron disease at the age of 14. Two cases from family N were studied. One case developed myoclonus at the age of 18 and developed ataxia several years later. The other case developed truncal ataxia at the age of 39 and showed bradykinesia 25 years later. One case of family O was studied. She developed truncal ataxia and dysarthria at the age of 44, and developed parkinsonism 3 years later. Their symptoms of parkinsonism improved and were well controlled on the treatment with levodopa for long time. Genetic examinations revealed no relationships between the number of CAG trinucleotide repeats and clinical symptoms or the disease course in the patients. Four patients had DAT imaging examinations and all of them reduced dopamine uptake in the striatum. Two of the cases showed reduction of DAT imazing without obvious signs of parkinsonism.

Conclusions: Three of six patients with SCA2 developed movement disorders as the first neurological deficit. The first clinical sign was parkinsonism in two cases and myoclonus in one case. One case developed ataxia at first and then showed parkinsonism 3 years later. DAT imazing revealed the reduction of dopaminergic neurons of the case before the sign of parkinsonism. Movement disorders are the most common sign as the first neurological deficit in cases with SCA2 in this study.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/movement-disorders-are-the-common-signs-as-the-first-neurological-deficit-in-cases-with-spinocerebellar-ataxia-type-2-sca2/