MCID: TBB006
MIFTS: 13

Tubb4a-Related Leukodystrophy

Categories: Neuronal diseases

Aliases & Classifications for Tubb4a-Related Leukodystrophy

MalaCards integrated aliases for Tubb4a-Related Leukodystrophy:

Name: Tubb4a-Related Leukodystrophy 24 25
Tubb4a-Associated Hypomyelinating Leukoencephalopathies 25
Tubb4a-Related Hypomyelinating Leukodystrophy 25

Characteristics:

GeneReviews:

24
Penetrance The penetrance is not known but appears to be 100%....

Classifications:



Summaries for Tubb4a-Related Leukodystrophy

Genetics Home Reference : 25 TUBB4A-related leukodystrophy is a disorder that affects the nervous system. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. In particular, TUBB4A-related leukodystrophy involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. In some affected individuals, myelin may also break down, which is known as demyelination. TUBB4A TUBB4A People with TUBB4A-related leukodystrophy have different combinations of signs and symptoms. Some of these combinations are described as separate disorders. However, the features in some affected individuals do not fit into these defined disorders. Researchers now group all of these cases of leukodystrophy, which have the same genetic cause, as TUBB4A-related leukodystrophy. TUBB4A TUBB4A At the most severe end of the TUBB4A-related leukodystrophy spectrum is a condition called hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). This disorder begins in infancy or early childhood. Most affected individuals have delayed development of motor skills, such as sitting and walking, and some are never able to walk on their own. In other cases, motor skills develop normally and then are lost in early childhood (developmental regression). In addition, individuals with H-ABC have other movement abnormalities, such as involuntary muscle contractions (dystonia), uncontrolled movements of the limbs (choreoathetosis), muscle stiffness (rigidity), and difficulty coordinating movements (ataxia). These individuals also often have impaired speech (dysarthria), a weak voice (dysphonia), and swallowing problems (dysphagia). Some develop seizures. Learning difficulty is common in individuals with H-ABC. TUBB4A H-ABC is characterized by particular brain abnormalities, including hypomyelination. In addition, tissue in certain regions of the brain breaks down (atrophies), most prominently in a region called the putamen, which is part of a group of structures that help control movement (the basal ganglia). Atrophy of brain tissue in another region involved in movement called the cerebellum is common, and atrophy of the cerebrum, which controls most voluntary activity, language, sensory perception, learning, and memory, can also occur. At the mildest end of the TUBB4A-related leukodystrophy spectrum is a condition called isolated hypomyelination, which begins at any time from late childhood to adulthood. Individuals at this end of the spectrum have mild hypomyelination and sometimes mild atrophy of the cerebellum, but no problems with the basal ganglia. These individuals can have movement problems, dysarthria, and learning difficulty, although these features are typically milder than in H-ABC. TUBB4A The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. Affected individuals can have varying degrees of hypomyelination and atrophy or impairment of the basal ganglia or other brain regions. Movement problems can also occur. A small group of affected individuals develop muscle stiffness and paralysis of the lower limbs (spastic paraplegia) that slowly worsen. In addition, these individuals may have mild hypomyelination and ataxia without the other movement or learning problems common in H-ABC. TUBB4A

MalaCards based summary : Tubb4a-Related Leukodystrophy, also known as tubb4a-associated hypomyelinating leukoencephalopathies, is related to hereditary ataxia and hypomyelinating leukoencephalopathy. An important gene associated with Tubb4a-Related Leukodystrophy is TUBB4A (Tubulin Beta 4A Class IVa). Affiliated tissues include cerebellum and brain.

GeneReviews: NBK395611

Related Diseases for Tubb4a-Related Leukodystrophy

Diseases related to Tubb4a-Related Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 hereditary ataxia 10.4
2 hypomyelinating leukoencephalopathy 10.4
3 hypomyelinating leukodystrophy 10.4
4 gastroesophageal reflux 10.3
5 leukodystrophy, hypomyelinating, 6 10.3
6 oculogyric crisis 10.3
7 scoliosis 10.3
8 leukodystrophy 10.3
9 constipation 10.3
10 dystonia 10.3
11 spasticity 10.3
12 tremor 10.3

Graphical network of the top 20 diseases related to Tubb4a-Related Leukodystrophy:



Diseases related to Tubb4a-Related Leukodystrophy

Symptoms & Phenotypes for Tubb4a-Related Leukodystrophy

Drugs & Therapeutics for Tubb4a-Related Leukodystrophy

Search Clinical Trials , NIH Clinical Center for Tubb4a-Related Leukodystrophy

Genetic Tests for Tubb4a-Related Leukodystrophy

Anatomical Context for Tubb4a-Related Leukodystrophy

MalaCards organs/tissues related to Tubb4a-Related Leukodystrophy:

41
Cerebellum, Brain

Publications for Tubb4a-Related Leukodystrophy

Articles related to Tubb4a-Related Leukodystrophy:

(show all 31)
# Title Authors PMID Year
1
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients. 38 4
26643067 2016
2
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings. 4
26810722 2016
3
Mutations in TUBB4A and spastic paraplegia. 4
26477786 2015
4
A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited. 4
25614026 2015
5
Reply: A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited. 4
25619510 2015
6
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? 4
25545912 2015
7
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. 4
25772097 2015
8
Consensus statement on preventive and symptomatic care of leukodystrophy patients. 4
25577286 2015
9
A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. 4
24974158 2015
10
TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. 4
25168210 2015
11
TUBB4A de novo mutations cause isolated hypomyelination. 4
25085639 2014
12
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 4
24785942 2014
13
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 4
24706558 2014
14
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies. 4
24850488 2014
15
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. 4
24742798 2014
16
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. 4
24526230 2014
17
[Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity]. 4
24504878 2014
18
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. 4
23582646 2013
19
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. 4
23424103 2013
20
Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. 4
18851904 2009
21
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. 4
17999358 2007
22
Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome. 4
17202777 2007
23
Effective treatment with levodopa and carbidopa for hypomyelination with atrophy of the basal ganglia and cerebellum. 4
16707859 2006
24
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case. 4
15944912 2005
25
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. 4
15192806 2004
26
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. 4
12447940 2002
27
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. 4
12372733 2002
28
Structural insight into microtubule function. 4
11441808 2001
29
Mutations in the Caenorhabditis elegans beta-tubulin gene mec-7: effects on microtubule assembly and stability and on tubulin autoregulation. 4
7983175 1994
30
Sequence of an expressed human beta-tubulin gene containing ten Alu family members. 4
6462917 1984
31
TUBB4A-Related Leukodystrophy 38
27809427 2016

Variations for Tubb4a-Related Leukodystrophy

Expression for Tubb4a-Related Leukodystrophy

Search GEO for disease gene expression data for Tubb4a-Related Leukodystrophy.

Pathways for Tubb4a-Related Leukodystrophy

GO Terms for Tubb4a-Related Leukodystrophy

Sources for Tubb4a-Related Leukodystrophy

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