Ba. Racette et al., Late-onset neurodegeneration with brain iron accumulation type 1: Expanding the clinical spectrum, MOVEMENT D, 16(6), 2001, pp. 1148-1152
We report on two patients with pathologically proven neurodegeneration with
brain iron accumulation type 1 (NBIA-1) with late onset and atypical prese
ntations. One patient experienced gradual onset of shuffling gait, rigidity
, bradykinesia, and increasing postural instability at age 85 years. He die
d a few weeks after developing acute hemiballismus at age 90 years. Histopa
thology revealed marked neuronal loss in the internal segment of the globus
pallidum, astrocytosis, axonal spheroids, and extensive iron deposition co
nsistent with NBIA-1. No additional lesions were found to explain the hemib
allismus. The second patient experienced fulminant dementia evolving to tot
al disability and death within 2 months. Autopsy showed typical NABIA-1 pat
hology. We conclude that NBIA-1 pathology can develop at any age, and that
the phenotype should be expanded to include late-onset parkinsonism. The re
lationship to hemiballismus and adult-onset dementia is less clear. (C) 200
1 Movement Disorder Society.