KEGG DISEASE: Mild encephalopathy with reversible myelin vacuolization

KEGG

DISEASE: Mild encephalopathy with reversible myelin vacuolization

Entry

H02489                      Disease

Name

Mild encephalopathy with reversible myelin vacuolization

Description

Mild encephalopathy with reversible myelin vacuolization (MMERV) is a familial disorder with clinical finding of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). Mutations in MYRF have been identified in patients. MYRF is a critical transcriptional regulator required for CNS myelination.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Other disorders of the nervous system
   8E4Y  Other specified disorders of the nervous system
    H02489  Mild encephalopathy with reversible myelin vacuolization

Gene

MYRF [HSA:745] [KO:K24768]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Koenning M, Jackson S, Hay CM, Faux C, Kilpatrick TJ, Willingham M, Emery B

Title

Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS.

Journal

J Neurosci 32:12528-42 (2012)
DOI:10.1523/JNEUROSCI.1069-12.2012

Reference

Authors

Imamura T, Takanashi J, Yasugi J, Terada H, Nishimura A

Title

Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; Familial MERS?

Journal

J Neurol Sci 290:153-6 (2010)
DOI:10.1016/j.jns.2009.12.004

LinkDB

» Japanese version

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