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Article

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2016

Tonduti Davide, Aiello Chiara, Renaldo Florence, Dorboz Imen, Saaman Simon, Rodriguez Diana, Fettah Houda, Elmaleh Monique, Biancheri Roberta, Barresi Sabina, Boccone Loredana, Orcesi Simona, Pichiecchio Anna, Zangaglia Roberta, Maurey Hélène, Rossi Andrea, Boespflug-Tanguy Odile, Bertini Enrico

Abstract excerpt

BACKGROUND: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) was first described in 2002. After the recent identification of TUBB4A mutation as the genetic basis of the disease, the clinical and neuroimaging phenotype related to TUBB4A mutations expanded, ranging from primary dystonia type 4 with normal MRI to severe H-ABC cases. PATIENTS AND METHODS: The study included patients referred...

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PMID: 26643067
DOI: 10.1016/j.ejpn.2015.11.006

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

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