Paroxysmal Ataxia
Cendrine Foucard, Marie Belley, Aude Sangaré, Céline Bonnet, M. Renaud, Emmanuel Roze
Abstract
Objectives: gene encoding fibroblast growth factor 14 has recently been identified as a frequent cause of LOCA. Methods: repeat expansion and 3 affected family members. Results: repeat expansion. The index case was investigated in detail. We have provided a video showing one of her paroxysmal episodes that could be triggered by alcohol, coffee, exertion, emotion, or cigarette smoking. Brain MRI revealed mild cerebellar atrophy, and oculography showed a subclinical downbeat nystagmus. Treatment with acetazolamide resulted in remarkable improvement. Discussion: repeat expansion/SCA27B, especially when the paroxysmal attacks are associated with late-onset cerebellar ataxia and/or a family history consistent with a dominant disorder.