Article
[A new form of hereditary neurodegeneration with brain iron accumulation: clinical and molecular-genetic characteristics].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2014
Zakharova E Yu, Rudenskaya G E
Abstract excerpt
Neurodegeneration with brain iron accumulation, type 4 (NBIA4, or MPAN) is an autosomal recessive disease produced by С19org12 mutations. NBIA group includes also most common NBIA1 or PKAN (formerly Hallervorden-Spatz disease) NBIA2 or PLAN, and few others. Common NBIA features are onset in childhood or adolescence, progressive movement disorders (spasticity, dystonia, parkinsonism), dysarthria, optic atrophy,...
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