ELOVL4 mutations are associated with cerebellar dysfunction and protein mislocalization

Takeaway

  • Spinocerebellar ataxia 34 (SCA34) is characterized by neurocognitive deficits typical of cerebellar cognitive-affective syndrome.

  • Elongation of very long chain fatty acids-4 (ELOVL4) mutations play a pathogenic role in cerebellar dysfunction.

Why this matters

    Clinicians should consider the diagnosis of SCA34, even in the absence of erythrokeratodermia variabilis (EKV) and systematically assess cognitive and psychiatric features in individuals presenting with cerebellar ataxia.