AIFM1 ataxia
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
AIFM1 ataxia. This is caused by mutations in the AIFM1 gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the AIFM1 gene
- The gene is also associated with CMTX4 (Cowchock syndrome)
Central features
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Peripheral features
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Nerve conduction studies (NCS)
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Magnetic resonance imaging (MRI) brain
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Treatment
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Acronym
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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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