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Results 1 - 10 of 17 for Leukoencephalopathy with vanishing white matter 4
  1. RNASET2 gene 
    ... Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016. ...
    https://medlineplus.gov/genetics/gene/rnaset2 - Genetics
  2. DARS2 gene 
    ... Knaap MS. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007 Apr;39(4):534-9. doi: 10.1038/ng2013. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/dars2 - Genetics
  3. HEPACAM gene 
    ... van der Knaap MS. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet. 2011 Apr 8;88(4):422-32. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/hepacam - Genetics
  4. EIF2B4 gene 
    ... stress, resulting in the signs and symptoms of leukoencephalopathy with vanishing white matter. More About This Health Condition DKFZp586J0119 EI2BD_HUMAN EIF-2B EIF2B EIF2Bdelta eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD) eukaryotic translation initiation factor 2B, subunit ...
    https://medlineplus.gov/genetics/gene/eif2b4 - Genetics
  5. CSF1R gene 
    ... identified in three families with autosomal dominantly inherited leukoencephalopathy. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100. Epub 2012 Oct 4. Citation on PubMed Rademakers R, Baker M, Nicholson ...
    https://medlineplus.gov/genetics/gene/csf1r - Genetics
  6. EARS2 gene 
    ... Prokisch H, van der Knaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4. Citation on PubMed Taskin BD, Karalok ZS, Gurkas ...
    https://medlineplus.gov/genetics/gene/ears2 - Genetics
  7. HTRA1 gene 
    ... and dividing in an uncontrolled way. At least four mutations in the HTRA1 gene have been found to cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL. This condition is characterized ...
    https://medlineplus.gov/genetics/gene/htra1 - Genetics
  8. NFU1 gene 
    ... M, Farina L, Ghezzi D, Moroni I. Cavitating leukoencephalopathy with multiple ... J Inherit Metab Dis. 2014 Jul;37(4):553-63. doi: 10.1007/s10545-014-9705- ...
    https://medlineplus.gov/genetics/gene/nfu1 - Genetics
  9. TUBB4A gene 
    ... the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  10. EIF2B5 gene 
    ... identified in about 65 percent of people with leukoencephalopathy with vanishing white matter, including those with a ... and Chippewayan populations of Quebec and Manitoba (Cree leukoencephalopathy) and some affected females with a variant of ...
    https://medlineplus.gov/genetics/gene/eif2b5 - Genetics
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