Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.

CONCLUSION: AIFM1 mutations cause childhood cerebellar ataxia, which may be partially treatable in some patients with high dose riboflavin.
PMID: 28967629 [PubMed - as supplied by publisher]

Source: European Journal of Paediatric Neurology - September 15, 2017 Category: Neurology Authors: Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A Tags: Eur J Paediatr Neurol Source Type: research