Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case

S. Mercimek-Mahmutoglu, M. S. Van Der Knaap, I. Baric, D. Prayer, Sylvia Stoeckler-Ipsiroglu*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome is a new neurodegenerative entity, which was first described by van der Knaap in 2002 in 7 patients aged from 2 months to 2 years. We describe a new, 42-month-old female patient who developed progressive dystonia, spasticity and oculogyric eye movements since the age of 3 months. The diagnosis was made by characteristic MRI findings including supratentorial hypomyelination and progressive atrophy of basal ganglia and cerebellum. Oculogyric eye movements have not been described in patients with H-ABC syndrome before. When compared with the normal age-related myelination patterns, the degree of hypomyelination increased progressively over the time course of 32 months, indicating arrest but not loss of myelination. The H-ABC syndrome adds to the differential diagnosis of progressive pyramidal and extrapyramidal movement disorders and to the increasing number of genetically determined hypomyelination syndromes.

Original languageEnglish
Pages (from-to)223-226
Number of pages4
Issue number3
Publication statusPublished - Jun 2005

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