Early onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH)
General description
Early onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH) is an autosomal recessive disorder resulting from mutations in the APTX gene encoding the aprataxin (APTX) protein.
The typical clinical presentation manifests during early childhood, characterized by slowly progressive cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy associated with absent deep tendon reflexes, muscular weakness, and muscular atrophy.
A hallmark laboratory finding in EAOH is marked hypoalbuminemia accompanied by hypercholesterolemia.
References
- Ronsin, Solène, et al. "A new MRI marker of ataxia with oculomotor apraxia." European Journal of Radiology 110 (2019): 187-192.
Cerebellar atrophy
MRI demonstrates prominent cerebellar atrophy, evident from the early stages of the disease course.
Disappearance of the normal dentate nuclei hypointensity
SWI reveals disappearance of the normal dentate nuclei hypointensity despite preserved volume in these structures.