COQ8A-Associated Ataxia in a Colombian Patient Presenting with Bilateral Ptosis and Response to CoQ10 Supplementation.
Sebastián Bonilla Navarrete, Fabian Erazo Amariles, Valentina Quintana Peña et al.
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Case in brief
A 67-year-old woman with consanguineous parents had gait instability and exercise intolerance from age 10, progressing very slowly. Examination showed bilateral ptosis, hypometric saccades, limb incoordination, and ataxic gait, without cognitive impairment; MRI demonstrated severe cerebellar atrophy. Testing for several spinocerebellar ataxias was negative, while an ataxia sequencing panel identified a homozygous pathogenic COQ8A variant. Her SARA score decreased from 24/40 to 8/40 after 30 months of CoQ10 supplementation, a sustained improvement temporally associated with treatment.
What made this case unusual
The presentation included bilateral ptosis, and diagnosis followed a 57-year delay. The report describes the first molecularly confirmed COQ8A-ataxia case in Colombia.
Diagnostic / clinical pearl
In slowly progressive ataxia with cerebellar atrophy, a negative spinocerebellar ataxia panel does not exclude COQ8A-related disease; an ataxia sequencing panel may identify the diagnosis.
Why it matters
The marked SARA score reduction during CoQ10 supplementation highlights a potentially treatable diagnosis, although this single case establishes temporal association rather than treatment efficacy.