alpha-Synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies

We studied a 27-year-old woman who died after a 6-year history of progressi ve dementia, dystonia, ataxia. apraxia. spasticity. choreoathetosis, visual and auditory hallucinations, and optic atrophy. Magnetic resonance imaging showed decreased intensity in the globus pallidus. substantia nigra, and d entate nuclei in T2-weighted images. supporting the clinical diagnosis of n eurodegeneration with brain iron accumulation type (NBIA-1: formerly known as Hallervorden-Spatz syndrome. At autopsy the brain showed mild frontotemp oral atrophy and discoloration of the globus pallidus and the substantia ni gra pars reticularis. Histologically, features typical of NBIA-1 were found including widespread axonal spheroids and large deposits of iron pigment i n the discolored regions. Additionally, excessive numbers of Lewy bodies (L Bs) were found throughout all examined brain stem and cortical regions. LBs of both types, as well as Lewy neurites in this case of NBIA-1. were stron gly labeled by antibodies against alpha-synuclein. These findings give furt her evidence that accumulation of a-synuclein is generally associated with LB formation, i.e., in Parkinson's disease, dementia with Lewy bodies and N BIA-1. The case presented here is particularly notable for its high number of LBs in all areas of the cerebral cortex.