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Article

A Japanese adult case of megalencephalic leukoencephalopathy with subcortical cysts with a good long-term prognosis.

Internal medicine (Tokyo, Japan) - 1 Jan 2012

Koyama Shingo, Kawanami Toru, Arawaka Shigeki, Wada Manabu, Kato Takeo

Abstract excerpt

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently recognized neurological disease, and mutations in the MLC1 gene have been identified as the cause of the disorder. A 54-year-old Japanese woman with macrocephaly presented with progressive mental decline, gait disturbance due to spasticity and ataxia, and choreoathetotic movement in the left upper extremity. Brain magnetic resonance...

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Source

Identifiers

PMID: 22382567
DOI: 10.2169/internalmedicine.51.6462

Genes

MLC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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