Background: An 83-year-old man presented with hypertension, hyperlipidemia, and a previous basal cell carcinoma, having developed progressive worsening of his balance and difficulty walking at the age of 78 years. He was initially diagnosed with stroke, but MRI revealed only isolated cerebellar atrophy. The patient then underwent multiple evaluations for an underlying paraneoplastic process, all of which were negative, but his symptoms progressed and he remained undiagnosed for several years.
Investigations: Neurological examination, laboratory blood tests, MRI, and directed genetic testing.
Diagnosis: Five years after becoming symptomatic, the patient was re-evaluated for a possible genetic ataxia syndrome, which was subsequently confirmed by gene testing as spinocerebellar ataxia type 6 (SCA6).
Management: Symptomatic medical treatment and physical, occupational, and speech therapy.