Autosomal recessive ataxia due to PEX2 deficiency

Definition

A rare genetic, peroxisomal disease characterized by childhood or adolescence onset slowly progressing cerebellar ataxia and severe axonal sensorimotor polyneuropathy due to PEX 2 deficieny. Patients develop marked brain atrophy including cerebellum, cerebellar peduncles, and bulbar olives. Gait disturbance, moderate truncal ataxia, moderate cerebellar tremor, mild dysarthria, areflexia, strabismus, hypoacusia and nystagmus were also reported.