ABSTRACT
We present findings on MR imaging in 5 patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). In the literature, early atrophy of the superior vermis as well as progressive atrophy of the cerebellar hemispheres and cervical cord was described. We found linear hypointensity on T2 and T2 fluid-attenuated inversion recovery-weighted images in the pons in all of our 5 patients.
Subject(s)
Cerebellar Ataxia/diagnosis , Cerebellar Ataxia/genetics , Genes, Recessive , Magnetic Resonance Imaging , Adolescent , Child , Electromyography , Female , Humans , Middle Aged , Pons/pathologyABSTRACT
Twenty adult Sprague-Dawley outbred rats (10 male and 10 female) were fed a nonpurified diet without or containing dehydroepiandrosterone acetate (DHEA 6 g/kg diet) for 11 w. DHEA-treated animals weighed less than the controls after 6 wk and until the end of treatment. However, only the differences between male groups were statistically significant. Food intake of the DHEA-fed animals was not affected, but resting heat production was elevated for both sexes. Serum triglyceride levels and activity of hepatic glucose-6-phosphate dehydrogenase of the experimental groups were lower than controls. Analyses of body composition indicated DHEA-treated animals had proportionately less body fat and therefore more body water, protein and ash than controls. In most cases, differences in body composition were due primarily to effects of DHEA on the female animals. In a second experiment, DHEA treatment did not alter urinary ketone levels nor did it enhance citrate synthase activity in interscapular brown fat, skeletal muscle, heart or liver. Findings suggest that DHEA acetate treatment affected body weight, body composition and utilization of dietary energy by both impairing fat synthesis and promoting fat-free tissue deposition and resting heat production. Possible mechanisms by which DHEA may affect metabolism are discussed.