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Article

Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 2 Jan 2026

Sartorelli Jacopo, Tonduti Davide, Ambrosini Elena, Bonaventura Eleonora, Vercellino Luisa, Vaia Ylenia, Bruschi Fabio, Pochiero Francesca, Procopio Elena, Simonati Alessandro, Moroni Isabella, Danti Federica Rachele, Severino Mariasavina, Popple Marina Martinez, Rossi Salvatore, Silvestri Gabriella, Garavelli Livia, Madeo Simona, Bertini Enrico, Nicita Francesco

Abstract excerpt

BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited white matter disorder. Initially, a "classic" phenotype has been characterized, presenting early-onset macrocephaly, cerebellar ataxia, mild spasticity, and a distinctive neuroimaging pattern of diffuse white matter abnormalities with subcortical cysts. An "improving" phenotype has also been described, featuring...

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Source

Identifiers

PMID: 41483250
DOI: 10.1007/s10072-025-08610-z

Genes

MLC1
HEPACAM
AQP4
GPRC5B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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