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.

Overview

What is hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)?

What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)?

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

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

What is hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)?

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain.  Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems.[1]  These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better.  Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum.  H-ABC is is caused by a mutation in the TUBB4A gene.[2]
Last updated: 11/13/2014

What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)?

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent.[2]
Last updated: 3/28/2012

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.[3]
Last updated: 3/28/2012

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

Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC).  However, there is a case report of one patient's movement difficulties improving somewhat after he took the medication levodopa-carbidopa.[3]  Another patient showed improvement in movement symptoms after taking folinic acid supplements.[4]
Last updated: 3/28/2012

References
  1. 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.
  2. Leukodystrophy, Hypomyelinating, 6; HLD6. OMIM. 2014; http://omim.org/entry/612438. Accessed 11/13/2014.
  3. 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.
  4. Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S. Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome. Tohoku Journal of Experimental Medicine. 2007; 211:95-96. http://www.ncbi.nlm.nih.gov/pubmed/17202777. Accessed 3/28/2012.


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.