FAMILIAL IDIOPATHIC BRAIN CALCIFICATION WITH AUTOSOMAL-DOMINANT INHERITANCE

We report a family with brain calcification: predominantly in the basa l ganglia, and no evident cause such as abnormal calcium or phosphorus metabolism. The proband, a 48-year-old man, had intellectual decline, parkinsonism, and mild cerebellar ataxia. He had bilateral and symmet ric calcification of the basal ganglia, thalamus, dentate nucleus, cer ebral cortex, subcortical white matter, and hippocampus on CT. Calcifi ed areas showed low- or high-intensity signals on MRI T-1-weighted ima ges, and low-intensity signals on MRI T-2-weighted images. Tr io sons and both parents, all asymptomatic, also showed calcification of the b asal ganglia, suggesting an autosomal dominant inheritance. Familial i diopathic brain calcification is a rare disorder with less than 20 pre viously reported families. Twelve families with autosomal dominant inh eritance showed a relatively homogeneous clinical picture, which may r epresent a distinct clinical entity. Mental deterioration, parkinsonis m, and cerebellar ataxia appear in adult life and progress gradually. CT imaging, rather than MRI, is a simple and useful means to screen fa mily members for this condition.