Sirio Cocozza1, Giuseppe Pontillo2, Giovanna De Michele3, Teresa Perillo2, Elvira Guerriero2, Lorenzo Ugga2, Elena Salvatore3, Daniele Galatolo4, Vittorio Riso5, Francesco Saccà3, Mario Quarantelli6, Arturo Brunetti2. 1. Department of Advanced Biomedical Sciences, University "Federico II", Naples, Italy. sirio.cocozza@unina.it. 2. Department of Advanced Biomedical Sciences, University "Federico II", Naples, Italy. 3. Department of Neurosciences and Reproductive and Odontostomatological Sciences, University "Federico II", Naples, Italy. 4. Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy. 5. Area of Neuroscience, Fondazione Policlinico Universitario A. Gemelli IRCSS, Rome, Italy. 6. Institute of Biostructure and Bioimaging, National Research Council, Naples, Italy.
Abstract
PURPOSE: A new form of autosomal dominant hereditary spinocerebellar ataxia (SCA) has been recently described (SCA48), and here we investigate its conventional MRI findings to identify the presence of a possible imaging feature of this condition. METHODS: In this retrospective observational study, we evaluated conventional MRI scans from 10 SCA48 patients (M/F = 5/5; 44.7 ± 7.8 years). For all subjects, atrophy of both supratentorial and infratentorial compartments were recorded, as well as the presence of possible T2-weighted imaging (T2WI) signal alterations. RESULTS: In SCA48 patients, no meaningful supratentorial changes were found, both in terms of volume loss or MRI signal changes. Atrophy of the cerebellum was present in all cases, involving both the vermis and the hemispheres, but particularly affecting the postero-lateral portions of the cerebellar hemispheres. In all patients, with the exception of only one subject (90.0% of the cases), a T2WI hyperintensity of both dentate nuclei was found. The association of such signal alteration with the pattern of cerebellar atrophy resembled the appearance of a crab ("crab sign"). CONCLUSION: Our findings suggest that SCA48 patients are characterized by cerebellar atrophy, mainly involving the postero-lateral hemisphere areas, along with a T2WI hyperintensity of dentate nuclei. We propose that the association of such signal change, along with the atrophy of the lateral portion of the cerebellar hemispheres, resembled the appearance of a crab, and therefore, we propose the "crab sign" as a neuroradiological sign present in SCA48 patients.
PURPOSE: A new form of autosomal dominant hereditary spinocerebellar ataxia (SCA) has been recently described (SCA48), and here we investigate its conventional MRI findings to identify the presence of a possible imaging feature of this condition. METHODS: In this retrospective observational study, we evaluated conventional MRI scans from 10 SCA48 patients (M/F = 5/5; 44.7 ± 7.8 years). For all subjects, atrophy of both supratentorial and infratentorial compartments were recorded, as well as the presence of possible T2-weighted imaging (T2WI) signal alterations. RESULTS: In SCA48 patients, no meaningful supratentorial changes were found, both in terms of volume loss or MRI signal changes. Atrophy of the cerebellum was present in all cases, involving both the vermis and the hemispheres, but particularly affecting the postero-lateral portions of the cerebellar hemispheres. In all patients, with the exception of only one subject (90.0% of the cases), a T2WI hyperintensity of both dentate nuclei was found. The association of such signal alteration with the pattern of cerebellar atrophy resembled the appearance of a crab ("crab sign"). CONCLUSION: Our findings suggest that SCA48 patients are characterized by cerebellar atrophy, mainly involving the postero-lateral hemisphere areas, along with a T2WI hyperintensity of dentate nuclei. We propose that the association of such signal change, along with the atrophy of the lateral portion of the cerebellar hemispheres, resembled the appearance of a crab, and therefore, we propose the "crab sign" as a neuroradiological sign present in SCA48 patients.
Authors: Tanja Schmitz-Hübsch; Silke Lux; Peter Bauer; Alexander U Brandt; Elena Schlapakow; Susanne Greschus; Michael Scheel; Hanna Gärtner; Mehmet E Kirlangic; Vincent Gras; Dagmar Timmann; Matthis Synofzik; Alejandro Giorgetti; Paolo Carloni; Jon N Shah; Ludger Schöls; Ute Kopp; Lisa Bußenius; Timm Oberwahrenbrock; Hanna Zimmermann; Caspar Pfueller; Ella-Maria Kadas; Maria Rönnefarth; Anne-Sophie Grosch; Matthias Endres; Katrin Amunts; Friedemann Paul; Sarah Doss; Martina Minnerop Journal: Ann Clin Transl Neurol Date: 2021-03-19 Impact factor: 4.511
Authors: A Umano; K Fang; Z Qu; J B Scaglione; S Altinok; C J Treadway; E T Wick; E Paulakonis; C Karunanayake; S Chou; T M Bardakjian; P Gonzalez-Alegre; R C Page; J C Schisler; N G Brown; D Yan; K M Scaglione Journal: J Biol Chem Date: 2022-04-07 Impact factor: 5.486