neuroferritinopathy; neurodegeneration with brain iron accumulation 3; basal ganglia disease, adult onset
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Genetics
- - associated with defects in FTL gene
Clinical manifestations
- movement disorder
- heterogeneous presentations starting in the 4th-6th decade
- characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit & episodic psychosis
Laboratory
- decreased serum ferritin levels