Abstract
A 66-year-old man reported an eight-year history of progressive ataxia and one-year of weakness, fasciculation and muscle atrophy (). Examination disclosed hypermetric saccades, diffuse fasciculations and absent deep tendon reflexes. Family history was remarkable for autosomal dominant ataxia (). MRI showed cerebellar atrophy. Genetic testing confirmed SCA3 (66 allelic expansion on ATXN3 gene). EMG disclosed diffuse denervation and confirmed motor neuron disease (MND). […] Spinocerebellar ataxia type 3 presenting simultaneously with motor neuron disease and cerebellar ataxia
Highlights
SCA3 usually manifest as peripheral nerve involvement in a neuronopathy pattern and anterior horn degeneration, marked motor neuron disease (MND) is uncommon[1,2]
SCA3 with simultaneous sporadic amyotrophic lateral sclerosis should be considered and may be related to accumulation of transactivation-responsive DNA-binding protein 43 (TDP-43) in the lower motor neurons[3]
Summary
Genetic testing confirmed SCA3 (66 allelic expansion on ATXN3 gene).
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