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Results 1 - 10 of 127 for Cerebral atrophy
  1. Asparagine synthetase deficiency 
    ... ASNS deficiency ASNSD Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Disorder of asparagine metabolism Genetic Testing Registry: ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  2. Phosphoglycerate dehydrogenase deficiency 
    ... cells leading to a loss of brain tissue (brain atrophy), specifically affecting the fatty tissue known as myelin that surrounds nerve cells (hypomyelination). Frequently, the tissue that connects the two halves of the brain (corpus callosum) is small and thin, and the ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  3. CLPB gene 
    ... RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  4. SEPSECS gene 
    ... OS. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87( ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  5. CLPB deficiency 
    ... RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  6. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... a loss of nerve cells in the brain (cerebral atrophy).All individuals with FBXL4-related encephalomyopathic mtDNA depletion ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  7. CLN1 disease 
    ... leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  8. Cerebrotendinous xanthomatosis 
    ... of myelin and disrupting nerve signaling in the brain. Degeneration (atrophy) of brain tissue caused by excess lipid deposits also contributes ...
    https://medlineplus.gov/.../condition/cerebrotendinous-xanthomatosis - Genetics
  9. TUBB4A-related leukodystrophy 
    ... In addition, tissue in certain regions of the brain breaks down (atrophies), most prominently in a region called the putamen, ... structures that help control movement (the basal ganglia). Atrophy of brain tissue in another region involved in movement called ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  10. OPA1 gene 
    ... early childhood. Individuals with Behr syndrome develop optic atrophy, brain dysfunction (encephalopathy), loss of sensation and weakness in ... OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. doi: ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
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