KEGG   DISEASE: Leukoencephalopathy, progressive, with ovarian failure
Entry
H02200                      Disease                                
Name
Leukoencephalopathy, progressive, with ovarian failure;
Ovarioleukodystrophy
  Supergrp
Progressive leukoencephalopathy [DS:H02598]
Description
Leukoencephalopathy, progressive, with ovarian failure has a clinical presentation previously described as ovarioleukodystrophy. Some of the patients have a variant of vanishing white matter disease with mutations in subunits of EIF2B [DS:H00869]. Recently, novel phenotype related to AARS2 mutations has been reported. AARS2 encodes mitochondrial alanyl-tRNA synthetase. Patients with AARS2 mutations had childhood- to adulthood-onset signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline. Female patients had ovarian failure.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Multiple sclerosis or other white matter disorders
   8A44  Leukodystrophies
    H02200  Leukoencephalopathy, progressive, with ovarian failure
Pathway
hsa00970  Aminoacyl-tRNA biosynthesis
Gene
AARS2 [HSA:57505] [KO:K01872]
Other DBs
ICD-11: 8A44.3
MeSH: C565836
OMIM: 615889
Reference
PMID:24808023
  Authors
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS
  Title
Novel (ovario) leukodystrophy related to AARS2 mutations.
  Journal
Neurology 82:2063-71 (2014)
DOI:10.1212/WNL.0000000000000497
Reference
PMID:18678442
  Authors
Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP
  Title
The ovarioleukodystrophy.
  Journal
Clin Neurol Neurosurg 110:1035-7 (2008)
DOI:10.1016/j.clineuro.2008.06.002
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