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Results 1 - 10 of 21 for Leukodystrophy
  1. PSAP gene 
    ... In a small number of individuals with metachromatic leukodystrophy, a disorder that causes deterioration of nervous system ... myelin leads to a loss of white matter (leukodystrophy) and impairment of nervous system function, resulting in ...
    https://medlineplus.gov/genetics/gene/psap - Genetics
  2. ASPA gene 
    ... McDonough JA, Pleasure D. Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. Ann Neurol. 2015 ...
    https://medlineplus.gov/genetics/gene/aspa - Genetics
  3. SOX10 gene 
    ... disorder known as peripheral demyelinating neuropathy, central demyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH). This rare ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  4. L2HGDH gene 
    The L2HGDH gene provides instructions for making an enzyme called L-2-hydroxyglutarate dehydrogenase. This enzyme is found in mitochondria, which are the ...
    https://medlineplus.gov/genetics/gene/l2hgdh - Genetics
  5. POLR3B gene 
    ... mutations have been associated with Pol III-related leukodystrophy. Leukodystrophies are conditions that involve abnormalities of the nervous ... the signs and symptoms of Pol III-related leukodystrophy, which include intellectual disability and difficulty with coordinating ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  6. ARSA gene 
    ... nerves. More than 110 mutations that cause metachromatic leukodystrophy, a disorder that causes deterioration of nervous system ... myelin leads to the loss of white matter (leukodystrophy) and impairment of nervous system function, resulting in ...
    https://medlineplus.gov/genetics/gene/arsa - Genetics
  7. POLR3A gene 
    ... have been found to cause Pol III-related leukodystrophy. Leukodystrophies are conditions that involve abnormalities of the nervous ... the signs and symptoms of Pol III-related leukodystrophy, which include intellectual disabilities and difficulty with coordination ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  8. LMNB1 gene 
    ... gene have been found to cause autosomal dominant leukodystrophy with autonomic disease (ADLD). This condition is characterized ... Messenger RNA processing is altered in autosomal dominant leukodystrophy. Hum Mol Genet. 2015 May 15;24(10): ...
    https://medlineplus.gov/genetics/gene/lmnb1 - Genetics
  9. TUBB4A gene 
    ... mutations in the TUBB4A gene cause TUBB4A-related leukodystrophy. This disorder is characterized by abnormalities of the ... nervous system to produce myelin (hypomyelination). TUBB4A-related leukodystrophy has a wide range of severity, with a ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  10. FA2H gene 
    ... demyelination), leading to a loss of white matter (leukodystrophy). Leukodystrophy is likely involved in the development of the ... said to have a disorder called FA2H-related leukodystrophy. However, these conditions are now generally considered to ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
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