Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Hypomyelination with atrophy of basal ganglia and cerebellum


Other Names for this Disease
  • H-ABC
  • HABC
  • HLD6
  • Leukodystrophy, hypomyelinating, 6
  • Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis


Newline Maker

How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed?

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain.  When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made:
  1. Decreased myelin (hypomyelination) in the brain.  Myelin usually forms a protective covering around brain cells.  In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly.
  2. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement.
  3. Atrophy of the cerebellum, another part of the brain that controls movement.[1]
Last updated: 3/28/2012

References
  1. Wakusawa K, Haginoya K, Kitamura T, Togashi N, Ishitobi M, Yokoyama H, Higano S, Onuma A, Nara T, Iinuma K. Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum. Tohoku Journal of Experimental Medicine. 2006; 209:163-167. http://www.ncbi.nlm.nih.gov/pubmed/16707859. Accessed 3/28/2012.
  2. Schiffmann R, van der Knaap MS. The latest on leukodystrophies. Current opinion in neurology. 2004; 17:187-192. http://www.ncbi.nlm.nih.gov/pubmed/15021247. Accessed 3/27/2012.