Abderrahmane Hedjoudje1, Gaël Nicolas2,3,4, Alice Goldenberg2,4, Catherine Vanhulle5, Clémentine Dumant-Forrest5, Guillaume Deverrière5, Pauline Treguier5, Isabelle Michelet5, Lucie Guyant-Maréchal2,4,6, Didier Devys7, Emmanuel Gerardin8, Jean-Nicolas Dacher8, Pierre-Hugues Vivier8. 1. Department of Medical Imaging, Rouen University Hospital, 31 rue de Germont, 76000, Rouen, France. a.hedjoudje@gmail.com. 2. Department of Genetics, Rouen University Hospital, Rouen, France. 3. Inserm U1079, CNR-MAJ, Rouen University, Rouen, France. 4. Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University, Rouen, France. 5. Department of Pediatry, Rouen University Hospital, Rouen, France. 6. Department of Neurophysiology, Rouen University Hospital, Rouen, France. 7. Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France. 8. Department of Medical Imaging, Rouen University Hospital, 31 rue de Germont, 76000, Rouen, France.
Abstract
BACKGROUND: The imaging features of Huntington disease are well known in adults, unlike in juvenile-onset Huntington disease. OBJECTIVE: To conduct a morphometric magnetic resonance imaging (MRI) analysis in three juvenile Huntington disease patients (ages 2, 4 and 6 years old) to determine whether quantitative cerebral and cerebellar morphological metrics may provide diagnostically interesting patterns of cerebellar and cerebellar atrophy. MATERIALS AND METHODS: We report the cases of three siblings with extremely early presentations of juvenile Huntington disease associated with dramatic expansions of the morbid paternal allele from 43 to more than 100 CAG trinucleotide repeats. Automatic segmentation of MRI images of the cerebrum and cerebellum was performed and volumes of cerebral substructures and cerebellar lobules of juvenile Huntington disease patients were compared to those of 30 normal gender- and age-matched controls. Juvenile Huntington disease segmented volumes were compared to those of age-matched controls by using a z-score. RESULTS: Three cerebral substructures (caudate nucleus, putamen and globus pallidus) demonstrated a reduction in size of more than three standard deviations from the normal mean although it was not salient in one of them at clinical reading and was not diagnosed. The size of cerebellum lobules, cerebellum grey matter and cerebellum cortex was reduced by more than two standard deviations in the three patients. The cerebellar atrophy was predominant in the posterior lobe. CONCLUSION: Our study sheds light on atrophic cerebral and cerebellar structures in juvenile Huntington disease. Automatic segmentations of the cerebellum provide patterns that may be of diagnostic interest in this disease.
BACKGROUND: The imaging features of Huntington disease are well known in adults, unlike in juvenile-onset Huntington disease. OBJECTIVE: To conduct a morphometric magnetic resonance imaging (MRI) analysis in three juvenile Huntington diseasepatients (ages 2, 4 and 6 years old) to determine whether quantitative cerebral and cerebellar morphological metrics may provide diagnostically interesting patterns of cerebellar and cerebellar atrophy. MATERIALS AND METHODS: We report the cases of three siblings with extremely early presentations of juvenile Huntington disease associated with dramatic expansions of the morbid paternal allele from 43 to more than 100 CAG trinucleotide repeats. Automatic segmentation of MRI images of the cerebrum and cerebellum was performed and volumes of cerebral substructures and cerebellar lobules of juvenile Huntington diseasepatients were compared to those of 30 normal gender- and age-matched controls. Juvenile Huntington disease segmented volumes were compared to those of age-matched controls by using a z-score. RESULTS: Three cerebral substructures (caudate nucleus, putamen and globus pallidus) demonstrated a reduction in size of more than three standard deviations from the normal mean although it was not salient in one of them at clinical reading and was not diagnosed. The size of cerebellum lobules, cerebellum grey matter and cerebellum cortex was reduced by more than two standard deviations in the three patients. The cerebellar atrophy was predominant in the posterior lobe. CONCLUSION: Our study sheds light on atrophic cerebral and cerebellar structures in juvenile Huntington disease. Automatic segmentations of the cerebellum provide patterns that may be of diagnostic interest in this disease.
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