High-Yield Neuroanatomy 5e

130 Chapter 17
CASE 17-1
A 50-year-old woman presented with a history of poor coordination of hands, speech, and eye movements,
accompanied by personality changes and some deterioration of intellectual function.
Relevant Physical Exam Findings
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Neurologic examination revealed marked cerebellar ataxia and spasticity of all extremities, held in a
flexed posture. Babinski sign was negative. The sensory system appeared normal.
Relevant Lab Findings
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Laboratory results were unremarkable. A brain computed tomography scan showed generalized cerebral
atrophy, most pronounced in the cerebellum.
Diagnosis
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Spinocerebellar ataxia is a genetic disease that is characterized by progressive loss of coordination of gait,
with frequent involvement of hands, speech, and eye movements. At least 29 different gene mutations
have been associated with the various forms of this disease.