Mutations in a gene named ELOVL5 cause a neurological disease called Spinocerebellar ataxia type 38 or SCA38. The disease causes gait instability and incoordination, anomalies of eye movements and other neurological symptoms caused by alterations in the cerebellar structure.
It is a very rare disease: only five families affected by SCA38 are known worldwide.
SCA38 behaves as an Autosomal Dominant trait: each affected subject has inherited the disease from the mother/father, and has a 50% chance to transmit the disease to his/her offspring, regardless of the sex.