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hypomyelination leukodystrophy 2
- ... 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 ...
- ... particular, Pelizaeus-Merzbacher-like disease type 1 involves hypomyelination, ... but the two disorders have different genetic causes.Beginning in the ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... of hypomyelination and congenital cataract. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Citation ...
- ... hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy ...
- ... R, Elroy-Stein O. Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. Mol ...
- ... Knaap MS, Wolf NI. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j. ...
- ... nerve impulses. In particular, Pelizaeus-Merzbacher disease involves ... Although these two types differ in severity, their features can overlap. ...
- ... J Med Genet A. 2004 Jan 15;124A(2):142-7. doi: 10.1002/ajmg.a.20334. Citation on PubMed Guo F, Bannerman P, Mills Ko E, Miers L, Xu J, Burns T, Li S, Freeman E, McDonough JA, Pleasure D. Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. Ann Neurol. 2015 ...