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Article

A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study.

Brain & development - 1 Aug 2003

Saijo Harumi, Nakayama Harumi, Ezoe Takanori, Araki Katsuhito, Sone Sui, Hamaguchi Hiroshi, Suzuki Hisaharu, Shiroma Naohide, Kanazawa Naomi, Tsujino Seiichi, Hirayama Yoshito, Arima Masataka

Abstract excerpt

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor function with ataxia, spasticity and mental decline. It has been revealed that the mutations in the gene, KIAA0027, were responsible for MLC and the gene was renamed subsequently 'MLC1'. A 41-year-old Japanese male with MLC, in whom a homozygous missense...

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Source

Identifiers

PMID: 12850517
DOI: 10.1016/s0387-7604(03)00006-8

Genes

MLC1

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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