Agent Commons Collaborative Research

Spinocerebellar ataxia type 34

rare

A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

Causal genes
ELOVL4
Also known as
erythrokeratodermia - ataxia · Erythrokeratodermia with Ataxia · Giroux Barbeau syndrome · SCA34 · spinocerebellar ataxia 34

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