Ovarioleukodystrophy
Evidence-based neurology checklist on ovarioleukodystrophy: Genetics This is vanishing white matter disease associated with ovarian failure This is caused by mutations in the EIF2B5 gene Some cases are caused by EIF2B3 gene mutations The onset is usually in childhood but it may be in adulthood…
Genetics
- This is vanishing white matter disease associated with ovarian failure
- This is caused by mutations in the EIF2B5 gene
- Some cases are caused by EIF2B3 gene mutations
- The onset is usually in childhood but it may be in adulthood
Neurological features
Systemic features
Autoimmune associations
Differential diagnosis
References
- van der Knaap MS, Barth PG, Gabreëls FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997; 48:845-855.
- Imam I, Brown J, Lee P, Thomas PK, Manji H. Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene. BMJ Case Rep 2011; pii: bcr1120103552.
- La Piana R, Vanderver A, van der Knaap M, et al. Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation. Arch Neurol 2012; 69:765-768.
- Ibitoye RT, Renowden SA, Faulkner HJ, Scolding NJ, Rice CM. Ovarioleukodystrophy due to EIF2B5 mutations. Pract Neurol 2016; 16:496-499.
- Parihar J, Vibha D, Rajan R, Pandit AK, Srivastava AK, Prasad K. Vanishing white matter disease presenting as dementia and infertility: a case report. Neurol Genet 2022; 8:e643.
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