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Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin by G. Heimer; E. Eyal; X. Zhu; E.K. Ruzzo; D. Marek-Yagel; Doron Sagiv; Y. Anikster; H. Reznik-Wolf; E. Pras; D. Oz Levi; D. Lancet; B. Ben-Zeev; A. Nissenkorn is a Medicine article available to read on EtoBox.

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## Background: Aifm1 encodes a mitochondrial flavoprotein with a dual role (nadh oxidoreductase and regulator of apoptosis), which uses riboflavin as a cofactor. mutations in the x-linked aifm1 were reported in relation to two main phenotypes: a severe infantile mitochondrial encephalomyopathy and an early-onset axonal sensorimotor neuropathy with hearing loss. in this paper we report two unrelated males harboring aifm1 mutations (one of which is novel) who display distinct phenotypes including progressive ataxia which partially improved with riboflavin treatment. ## Methods: For both patients trio whole exome sequencing was performed. validation and segregation were performed with sanger sequencing. following the diagnosis, patients were treated with up to 200 mg riboflavin/day for 12 months. ataxia was assessed by the icars scale at baseline, and 6 and 12 months following treatment. ## Results: Patient 1 presented at the age of 5 years with auditory neuropathy, followed by progressive ataxia, vermian atrophy and axonal neuropathy. patient 2 presented at the age of 4.5 years with severe limb and palatal myoclonus, followed by ataxia, cerebellar atrophy, ophthalmoplegia, sensorineu

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Author

G. Heimer; E. Eyal; X. Zhu; E.K. Ruzzo; D. Marek-Yagel; Doron Sagiv; Y. Anikster; H. Reznik-Wolf; E. Pras; D. Oz Levi; D. Lancet; B. Ben-Zeev; A. Nissenkorn

Publisher

Elsevier BV

Published

2017

Language

EN

Field

Medicine (Health Sciences)