Spinocerebellar Ataxia Type 6 Concurrent with Normal-Pressure Hydrocephalus: A Case Report.
Rei Yazaki, Yuka Hosaka, Yutaka Oji et al.
✦ AI-curated · Sources linked
Case in brief
A 73-year-old man with two years of progressive gait disturbance had gaze-evoked nystagmus, dysarthria, limb ataxia, a broad-based shuffling gait, and urinary urgency. MRI showed cerebellar atrophy and disproportionately enlarged subarachnoid-space hydrocephalus; genetic testing confirmed SCA6. His mean 3-m Timed Up-and-Go time improved from 52 to 37 s after cerebrospinal fluid tap testing. After lumboperitoneal shunting, posture and gait scores and postural sway improved, with gait benefit maintained at 6 months, while limb coordination worsened and cerebellar signs persisted.
What made this case unusual
The patient had distinct responses across domains after shunting: gait and postural impairment improved, but limb coordination worsened, consistent with a shunt-responsive hydrocephalic component alongside persistent SCA6-related dysfunction.
Diagnostic / clinical pearl
In hereditary ataxia, gait impairment should not automatically be attributed solely to the genetic disorder; suggestive clinical and imaging features may indicate coexisting iNPH with a potentially shunt-responsive component.