Ovarioleukodystrophy

MedGen UID:: 341114
•Concept ID:: C1847967
•: Disease or Syndrome

Synonym:	Vanishing white matter leukodystrophy with ovarian failure
SNOMED CT:	Ovarioleukodystrophy (1156768008)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	AARS2

Orphanet:	ORPHA99853

Recent clinical studies

Etiology

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F
Neurology 2019 Mar 12;92(11):e1225-e1237. Epub 2019 Feb 8 doi: 10.1212/WNL.0000000000007098. PMID: 30737337 Free PMC Article

The ovarioleukodystrophy.

Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP
Clin Neurol Neurosurg 2008 Dec;110(10):1035-7. Epub 2008 Aug 3 doi: 10.1016/j.clineuro.2008.06.002. PMID: 18678442

Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.

Peter L, Niel F, Catenoix H, Jung J, Demarquay G, Petiot P, Rudigoz RC, Boespflug-Tanguy O, Ryvlin P, Mauguière F
Eur J Neurol 2008 Jan;15(1):94-7. Epub 2007 Nov 14 doi: 10.1111/j.1468-1331.2007.01999.x. PMID: 18005052

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Diagnosis

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.

Rodríguez-Palmero A, Schlüter A, Verdura E, Ruiz M, Martínez JJ, Gourlaouen I, Ka C, Lobato R, Casasnovas C, Le Gac G, Fourcade S, Pujol A
Ann Clin Transl Neurol 2020 Sep;7(9):1574-1579. Epub 2020 Aug 15 doi: 10.1002/acn3.51131. PMID: 33245593 Free PMC Article

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

Ovarioleukodystrophy in Chinese Han: A case report.

Zhang DP, Ma QK, Zhang SL, Li JZ
Clin Neurol Neurosurg 2017 Nov;162:22-24. Epub 2017 Aug 31 doi: 10.1016/j.clineuro.2017.07.015. PMID: 28910604

Ovarioleukodystrophy due to EIF2B5 mutations.

Ibitoye RT, Renowden SA, Faulkner HJ, Scolding NJ, Rice CM
Pract Neurol 2016 Dec;16(6):496-499. Epub 2016 Sep 20 doi: 10.1136/practneurol-2016-001382. PMID: 27651498

Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy.

Mukerji SS, Eichler FS
Neurology 2016 Jun 14;86(24):e248. doi: 10.1212/WNL.0000000000002764. PMID: 27298454 Free PMC Article

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Therapy

Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.

See all (1)

Clinical prediction guides

Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.

Wei C, Qin Q, Chen F, Zhou A, Wang F, Zuo X, Chen R, Lyu J, Jia J
BMC Neurol 2019 Aug 22;19(1):203. doi: 10.1186/s12883-019-1429-9. PMID: 31438897 Free PMC Article

The ovarioleukodystrophy.

Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP
Clin Neurol Neurosurg 2008 Dec;110(10):1035-7. Epub 2008 Aug 3 doi: 10.1016/j.clineuro.2008.06.002. PMID: 18678442

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.

Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O
Eur J Hum Genet 2004 Jul;12(7):561-6. doi: 10.1038/sj.ejhg.5201189. PMID: 15054402

See all (3)

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Ovarioleukodystrophy

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Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

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