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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
See this aricle in Pubmed

Article Abstract
We found 12 patients with GGC expansion in NOTCH2NLC as the most frequent cause of adult leukoencephalopathy followed by NOTCH3 variants in our cohort. Furthermore, we found 1 case with de novo GGC expansion, which might explain the underlying pathogenesis of sporadic cases.
 
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ataxia
ataxia,progressive
autonomic dysfunction
dementia
exome sequencing
familial
gene mutation
hyporeflexia
inclusion bodies,intranuclear
leukoencephalopathy
movement disorder
MRI,abnormal
MRI,diffusion weighted
neuronal intranuclear inclusion disease
neuropathy
NOTCH2NLC
progressive neurologic disorder
screening
trinucleotide repeats
weakness
white matter disease

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