1. Morphological features in juvenile Huntington disease associated with cerebellar atrophy — magnetic resonance imaging morphometric analysis
- Author
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Guillaume Deverrière, Clémentine Dumant-Forrest, Jean-Nicolas Dacher, Alice Goldenberg, Catherine Vanhulle, Emmanuel Gerardin, Pierre-Hugues Vivier, Lucie Guyant-Maréchal, Pauline Treguier, Abderrahmane Hedjoudje, Isabelle Michelet, Didier Devys, Gaël Nicolas, Service d'imagerie médicale [CHU Rouen], Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Hôpital Charles Nicolle [Rouen]-CHU Rouen, Normandie Université (NU), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Service de pédiatrie néonatale et réanimation - neuropédiatrie [CHU Rouen], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Service de neurophysiologie [Rouen], Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, DACHER, Jean Nicolas, Hôpital Charles Nicolle [Rouen], and Normandie Université (NU)-Normandie Université (NU)-CHU Rouen
- Subjects
Male ,0301 basic medicine ,Cerebellum ,Pathology ,medicine.medical_specialty ,Caudate nucleus ,Grey matter ,03 medical and health sciences ,0302 clinical medicine ,Cerebellar Diseases ,Cortex (anatomy) ,mental disorders ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,MESH: Brain ,Cerebellar atrophy ,Children ,Juvenile Huntington disease ,Magnetic resonance imaging ,Voxel-based morphometry ,[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs ,Child ,medicine.diagnostic_test ,Cerebrum ,business.industry ,Siblings ,Putamen ,Infant ,Magnetic Resonance Imaging ,nervous system diseases ,Huntington Disease ,030104 developmental biology ,medicine.anatomical_structure ,nervous system ,[SDV.MHEP.OS] Life Sciences [q-bio]/Human health and pathology/Sensory Organs ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Female ,Atrophy ,business ,030217 neurology & neurosurgery - Abstract
International audience; 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.
- Published
- 2018