AIFM1 ataxia
Evidence-based neurology checklist on aifm1 ataxia: Genetics This is caused by mutations in the AIFM1 gene The gene is also associated with CMTX4 (Cowchock syndrome) Central features Peripheral features Nerve conduction studies (NCS) Magnetic resonance imaging (MRI) brain Treatment Acronym
Genetics
- This is caused by mutations in the AIFM1 gene
- The gene is also associated with CMTX4 (Cowchock syndrome)
Central features
Peripheral features
Nerve conduction studies (NCS)
Magnetic resonance imaging (MRI) brain
Treatment
Acronym
References
- Heimer G, Eyal E, Zhu X, et al. Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin. Eur J Paediatr Neurol 2018; 22:93-101.
- Kettwig M, Schubach M, Zimmermann FA, et al. From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1. Mitochondrion 2015; 21:12-18.
- Sancho P, Sánchez-Monteagudo A, Collado A, et al. A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation. Neurogenetics 2017; 18:245-250.
- Diodato D, Tasca G, Verrigni D, et al. A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. Eur J Hum Genet 2016; 24:463-466.
- Pandolfo M, Rai M, Remiche G, Desmyter L, Vandernoot I. Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation. Neurol Genet 2020; 6:e420.
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