Neurology 2014 Feb 24;82(8):705-12. Epub 2014 Jan 24.
From the Laboratory of Medical Therapeutics and Molecular Therapeutics (Y.M., M. Takagi, Y.H., M.K., I.H.), Gifu Pharmaceutical University, Gifu; Department of Neurology (M. Tanaka, H. I., J.M., S. Tsuji), The University of Tokyo; Department of Neurology (N.A., G.S.), Nagoya University; Department of Neuropsychiatry (S.K.), Sapporo Medical University, Sapporo; Department of Neurology (Y.Y., S. Takashima, K.T.), Toyama University Hospital, Toyama; Department of Neurology (T.T.), Kagawa University Hospital, Kagawa; Department of Neurology (H.H,S.M.), Tokyo Metropolitan Institute of Gerontology, Tokyo; Department of Neurology and Geriatrics (M.Y., Y.H., T.I.), and Division of Genomic Research, Life Science Research Center (N.S.), Gifu University, Gifu, Japan.
Objective: To investigate the clinical, genetic, and neuroradiologic presentations of idiopathic basal ganglia calcification (IBGC) in a nationwide study in Japan.
Methods: We documented clinical and neuroimaging data of a total of 69 subjects including 23 subjects from 10 families and 46 subjects in sporadic cases of IBGC in Japan. Mutational analysis of SLC20A2 was performed. Read More