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Idiopathic basal ganglia calcification (FIBGC) is a rare autosomal dominant neurodegenerative disease, the main clinical signs of which are parkinsonism, cognitive deterioration and/or psychiatric troubles. Familial forms are rare. The underlying basis is not known. We performed detailed neurological, neuropsychological, brain CT scans and MRI evaluations in 15 patients of a large FIBGC family. Three patients also underwent a (18)FDG-PET scan study not previously performed in patients with FIBGC. Basal ganglia calcifications were present in 8 individuals, 3 of which had schizophrenia-like psychosis, cognitive and/or extrapyramidal signs. The mean age at disease onset was 34.0+/-3.6 years. Two patients had moderate executive dysfunction, whereas the proband had more severe dementia. (18)FDG uptake was significantly reduced in striatal or cortical areas, including the precuneus, posterior cingulate and superior temporal gyri. This study shows that calcifications and striatal neuronal degeneration can occur independently, and that functional changes in cortical areas can be observed early in FIBGC. Hypometabolism in the precuneus and posterior cingulate gyrus, which are involved in episodic memory processing, could be responsible for the episodic memory deficit found in the patients. Whether the underlying mechanism involves a neuronal loss or a functional alteration remains to be elucidated.

Magnetic resonance imaging (MRI) is the main tool for detecting central nervous system lesions in MS. However, classical anatomical MRI is unable to assess exactly disease related injury in normal-appearing brain tissue and to give information about the functional consequences of the disease, explaining weak correlation frequently observed between lesion load and clinical data. Recently, functional brain imaging techniques have provided new insights concerning pathophysiological processes of the disease. Among them Positron Emission Tomography (PET), a sensitive technique to evaluate functional consequences of tissue injury in other neurological diseases, has rarely been used in MS. Seventeen Relapsing-Remitting (RR-) MS patients with low disability at the early stage of the disease underwent measurements of cerebral metabolic rate of glucose (rCMRglu) in resting state by PET using [(18)F] fluorodeoxyglucose (FDG) and assessment of regional cortical and white matter lesion volume (LV), using an in-house-developed semi-automatic method, was done at the same time on MRI. rCMRglu of MS patients was compared with rCMRglu of 18 normal control subjects using univariate SPM99 analysis through Matlab 5 and correlations between rCMRglu and LV were tested using multivariate linear regression using SPM99. Statistical threshold was set at p