Hypomyelination with atrophy of basal ganglia and cerebellum

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 typically occurs for the first time in a person with the condition (i.e. it typically is not inherited from a parent).

The TUBB4A gene is involved in the formation of microtubules. Microtubules are an important part of the cytoskeleton (which gives cells their shape). They also play important roles in many cellular processes such as cell division, motility, and transport. The TUBB4A gene is mostly expressed ("turned on") in the central nervous system (CNS), especially in parts of the brain affected by H-ABC. Mutations in this gene are thought to impair the formation or stability of microtubules. This in turn may impairs the structure or roles of cells in the CNS, leading to the signs and symptoms of H-ABC.

Last updated on 05-01-20

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

H-ABC is diagnosed based on the presence of characteristic symptoms, a magnetic resonance imaging (MRI) scan of the brain, and genetic testing confirming a mutation in the TUBB4A gene.

Last updated on 05-01-20

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 worsen over time. Severity of symptoms and rate of progression can vary. Symptoms may include delayed motor development, learning difficulties, upper-motor neuron dysfunction (spasticity, exaggerated reflexes, and Babinski signs), dystonia, rigidity, involuntary movements, and speech and swallowing problems.

H-ABC is caused by a mutation in the TUBB4A gene. Inheritance is autosomal dominant, but most cases are due to a new mutation occurring for the first time in a person with the condition.

Treatment may involve taking medications to ease symptoms, physical therapy, and surgery when dystonia does not improve with medication.

Last updated on 05-01-20

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

H-ABC is very rare. While the exact prevalence is unknown, as of 2016, 71 people with H-ABC have been reported.

Last updated on 05-01-20

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

Unfortunately, there is currently no cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). However, quality of life may be improved with management of individual symptoms of the condition, which may involve:

  • Medications and physical therapy for spasticity (e.g. baclofen, diazepam or intramuscular botulinum toxin)
  • Medications for dystonia (e.g. trihexyphenidyl, tetrabenazine, or high doses of levodopa and carbidopa which were reportedly helpful in case reports)
  • Gastrostomy for feeding for swallowing dysfunction
  • Routine treatment for seizures, constipation, and gastroesophageal reflux disease

Routine evaluations of swallowing and feeding, nutrition, orthopedic and joint integrity, and neurologic symptoms are recommended.

Last updated on 05-01-20

Name: The Myelin Project P.O. Box 39
Pacific Palisades, CA, 90272, United States
Phone: 800-869-3546; 806 356 4693 Fax : 806 356 4694 Email: info@myelin.org Url: http://www.myelin.org
Name: Alex The Leukodystrophy Charity Alex TLC 45 Peckham High Street
London, SE15 5EB, United Kingdom
Phone: 020 7701 4388 Email: info@alextlc.org Url: https://www.alextlc.org
Name: European Association against Leukodystrophy ELA 2, rue Mi-les-Vignes BP 61024 54521
Laxou Cedex
France
Email: http://ela-asso.com/en/contact-2/ Url: http://ela-asso.com/en/
Name: Foundation to Fight H-ABC P.O. Box 12416
Silver Spring, MD, 20908, United States
Email: Contact@H-ABC.org Url: http://www.h-abc.org/ Contact form: http://www.h-abc.org/contact/
van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Kohler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S. Hypomyelination with atrophy of the basal ganglia and cerebellum Follow-up and Pathology Neurology. 2007; 69. 166-171. Mercimek-Mahmutoglu S, van der Knapp MS, Baric I, Prayer D, Stoeckler-Ipsiroglou. Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC). Report of New Case Neuropediatrics. 2005; 36. 223-226.

Connect with other users with Hypomyelination with atrophy of basal ganglia and cerebellum on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App