Spinocerebellar ataxia type 34

Spinocerebellar ataxia type 34 (SCA34), also known as erythrokeratodermia with ataxia, is a rare autosomal dominant neurodegenerative disorder caused by mutations in the ELOVL4 gene, which encodes a fatty acid elongase involved in the synthesis of very long-chain fatty acids. The disease is characterized by the combination of progressive cerebellar ataxia and skin abnormalities, particularly erythrokeratodermia variabilis (EKV), which manifests as transient red patches and hyperkeratotic plaques on the skin. SCA34 primarily affects the nervous system and the skin, distinguishing it from most other spinocerebellar ataxias. Neurological features include progressive gait and limb ataxia, dysarthria (slurred speech), nystagmus, and other signs of cerebellar dysfunction. The skin manifestations, which may appear in childhood or adolescence, often precede the neurological symptoms by years or even decades. The cerebellar ataxia typically develops in adulthood, usually between the third and fifth decades of life. Some patients may also exhibit pyramidal signs and sensory neuropathy. Brain imaging typically reveals cerebellar atrophy. There is currently no cure or disease-modifying treatment for SCA34. Management is supportive and symptomatic, including physical therapy and rehabilitation to maintain mobility and function, speech therapy for dysarthria, and dermatological care for the skin manifestations. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern. The disease was initially described in French-Canadian families but has since been identified in other populations.

Common questions about Spinocerebellar ataxia type 34