Early-onset Dementia

Gene: C19orf12

Green List (high evidence)

Neurodegeneration with brain iron accumulation-4 (NBIA4) is a 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. 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

Created: 25 Sep 2020, 12:32 a.m. | Last Modified: 25 Sep 2020, 12:32 a.m.

Panel Version: 0.83

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with brain iron accumulation 4, MIM# 614298

Publications

• 23278385
• 21981780
• 23269600