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Vanishing White Matter Leukodystrophy with Ovarian Failure

Also Known As:

Ovarioleukodystrophy

Networked: 8 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Leukoencephalopathies
2.	Ataxia (Dyssynergia)
3.	Cognitive Dysfunction
4.	Cerebellar Ataxia (Dysmetria)

Experts

1.	Schiffmann, Raphael: 3 articles (02/2008 - 07/2004)
2.	Boespflug-Tanguy, Odile: 2 articles (10/2004 - 07/2004)
3.	Fogli, Anne: 2 articles (10/2004 - 07/2004)
4.	Antonellis, Anthony: 1 article (02/2020)
5.	Kuo, Molly E: 1 article (02/2020)
6.	Shakkottai, Vikram G: 1 article (02/2020)
7.	Faulkner, H J: 1 article (12/2016)
8.	Ibitoye, R T: 1 article (12/2016)
9.	Renowden, S A: 1 article (12/2016)
10.	Rice, C M: 1 article (12/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Vanishing White Matter Leukodystrophy with Ovarian Failure:

1.	Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA 05/15/2008 - "A case of ovarioleukodystrophy without eIF2B mutations." 01/01/2008 - "Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor." 10/26/2004 - "Recently, in seven patients who presented with POF and white matter abnormalities on MRI (ovarioleukodystrophy) eight mutationswere found in EIF2B2, 4 and 5. METHODS: To further test the involvement of known mutations of EIF2B genes in POF, we screened 93 patients with POF who did not have identified leukodystrophy or neurological symptoms. " 04/01/2005 - "In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 encoding eIF2B. " 02/01/2008 - "Eukaryotic initiation factor 2B (eIF2B)-related disorders are heritable white matter disorders with a variable clinical phenotype (including vanishing white matter disease and ovarioleukodystrophy) and an equally heterogeneous genotype. "
2.	Peptide Initiation Factors (Initiation Factor)IBA 12/01/2016 - "We highlight the importance of ovarian failure as a diagnostic pointer to eukaryotic translation initiation factor 2B (eIF2B)-related ovarioleukodystrophy and present a brief literature review of ovarioleukodystrophy." 07/01/2004 - "Mutations in each of the five eucaryotic initiation factor 2B (eIF2B) subunits have been found in leukodystrophies of various severity: Cree leukoencephalopathy, childhood ataxia with central hypomyelination/leukodystrophy with vanishing white matter and ovarioleukodystrophy. "
3.	Alanine-tRNA LigaseIBA 02/01/2020 - "Mutations in the mitochondrial alanyl-tRNA synthetase gene, AARS2, have been reported to cause leukoencephalopathy associated with early ovarian failure, a clinical presentation described as "ovarioleukodystrophy." We present a sibling pair: one with cerebellar ataxia and one with vision loss and cognitive impairment in addition to ataxia. "