Neurodegeneration with brain iron accumulation 4

Common Name(s)

Neurodegeneration with brain iron accumulation 4

Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by {2:Dogu et al., 2013}). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay ({1:Deschauer et al., 2012}) For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 ({234200}).
 

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Following organizations serve the condition "Neurodegeneration with brain iron accumulation 4" for support, advocacy or research.

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Scientific Literature

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