BACKGROUND AND PURPOSE: Ataxia-telangiectasia (A-T) is an autosomal recessive disorder with characteristic neurodegeneration of the cerebellum. We used MR spectroscopy to test the hypothesis that cerebellar metabolism in A-T patients would be abnormal relative to healthy controls. METHODS: Twelve adults with A-T and 12 healthy control subjects underwent MR imaging and long-echo time (1)H-MR spectroscopy at 3T. Voxels were acquired in the region of the dentate nucleus of the cerebellum and in parietooccipital white matter, and ratios for N-acetylaspartate (NAA), choline (Cho), and creatine (Cr) were calculated. RESULTS: All of the A-T patients showed marked cerebellar atrophy of the vermis and hemispheres. Two patients showed multiple small foci of hypointensity on T2*-weighted images throughout their brain suggestive of capillary telangiectasia. A further 2 patients had single low-signal-intensity foci. One patient had a tumor, thought to be meningioma radiologically, that was not suspected clinically. No group differences were found in the cerebral spectra, but analysis of the cerebellum revealed significantly lower NAA/Cho and higher Cho/Cr ratios in the A-T patients compared with the controls. There was no difference between groups for the NAA/Cr ratio. CONCLUSION: The findings suggest increased Cho signal intensity in the cerebellum of adult A-T patients. If this finding is shown through the course of the disease, it may assist in the differentiation of early A-T from other forms of ataxia and provide a marker for monitoring treatment efficacy.
BACKGROUND AND PURPOSE:Ataxia-telangiectasia (A-T) is an autosomal recessive disorder with characteristic neurodegeneration of the cerebellum. We used MR spectroscopy to test the hypothesis that cerebellar metabolism in A-Tpatients would be abnormal relative to healthy controls. METHODS: Twelve adults with A-T and 12 healthy control subjects underwent MR imaging and long-echo time (1)H-MR spectroscopy at 3T. Voxels were acquired in the region of the dentate nucleus of the cerebellum and in parietooccipital white matter, and ratios for N-acetylaspartate (NAA), choline (Cho), and creatine (Cr) were calculated. RESULTS: All of the A-Tpatients showed marked cerebellar atrophy of the vermis and hemispheres. Two patients showed multiple small foci of hypointensity on T2*-weighted images throughout their brain suggestive of capillary telangiectasia. A further 2 patients had single low-signal-intensity foci. One patient had a tumor, thought to be meningioma radiologically, that was not suspected clinically. No group differences were found in the cerebral spectra, but analysis of the cerebellum revealed significantly lower NAA/Cho and higher Cho/Cr ratios in the A-Tpatients compared with the controls. There was no difference between groups for the NAA/Cr ratio. CONCLUSION: The findings suggest increased Cho signal intensity in the cerebellum of adult A-Tpatients. If this finding is shown through the course of the disease, it may assist in the differentiation of early A-T from other forms of ataxia and provide a marker for monitoring treatment efficacy.
Authors: Leonardo Baldarçara; Stuart Currie; M Hadjivassiliou; Nigel Hoggard; Allison Jack; Andrea P Jackowski; Mario Mascalchi; Cecilia Parazzini; Kathrin Reetz; Andrea Righini; Jörg B Schulz; Alessandra Vella; Sara Jane Webb; Christophe Habas Journal: Cerebellum Date: 2015-04 Impact factor: 3.847
Authors: Stuart Currie; Marios Hadjivassiliou; Ian J Craven; Iain D Wilkinson; Paul D Griffiths; Nigel Hoggard Journal: Cerebellum Date: 2013-04 Impact factor: 3.847
Authors: Harvey Perez; May F Abdallah; Jose I Chavira; Angelina S Norris; Martin T Egeland; Karen L Vo; Callan L Buechsenschuetz; Valentina Sanghez; Jeannie L Kim; Molly Pind; Kotoka Nakamura; Geoffrey G Hicks; Richard A Gatti; Joaquin Madrenas; Michelina Iacovino; Peter J McKinnon; Paul J Mathews Journal: Elife Date: 2021-11-01 Impact factor: 8.713