Document Detail

Familial idiopathic brain calcification with autosomal dominant inheritance.
MedLine Citation:
PMID:  9065541     Owner:  NLM     Status:  MEDLINE    
We report a family with brain calcification, predominantly in the basal 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 symmetric calcification of the basal ganglia, thalamus, dentate nucleus, cerebral cortex, subcortical white matter, and hippocampus on CT. Calcified areas showed low- or high-intensity signals on MRI T1-weighted images, and low-intensity signals on MRI T2-weighted images. Two sons and both parents, all asymptomatic, also showed calcification of the basal ganglia, suggesting an autosomal dominant inheritance. Familial idiopathic brain calcification is a rare disorder with less than 20 previously reported families. Twelve families with autosomal dominant inheritance showed a relatively homogeneous clinical picture, which may represent a distinct clinical entity. Mental deterioration, parkinsonism, and cerebellar ataxia appear in adult life and progress gradually. CT imaging, rather than MRI, is a simple and useful means to screen family members for this condition.
M Kobari; S Nogawa; Y Sugimoto; Y Fukuuchi
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neurology     Volume:  48     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1997 Mar 
Date Detail:
Created Date:  1997-03-28     Completed Date:  1997-03-28     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  645-9     Citation Subset:  AIM; IM    
Department of Neurology, School of Medicine, Keio University, Tokyo, Japan.
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MeSH Terms
Brain Diseases / genetics*,  radiography
Calcinosis / genetics*,  radiography
Genes, Dominant
Middle Aged
Tomography, X-Ray Computed

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