TY - JOUR
T1 - White matter and cerebellar involvement in alternating hemiplegia of childhood
AU - Severino, Mariasavina
AU - Pisciotta, Livia
AU - Tortora, Domenico
AU - Toselli, Benedetta
AU - Stagnaro, Michela
AU - Cordani, Ramona
AU - Morana, Giovanni
AU - Zicca, Anna
AU - Kotzeva, Svetlana
AU - Zanaboni, Clelia
AU - Montobbio, Giovanni
AU - Rossi, Andrea
AU - De Grandis, Elisa
AU - Bassi, Maria Teresa
AU - Zucca, Claudio
AU - Veneselli, Edvige
AU - Franchini, Filippo
AU - Vavassori, Maria Rosaria
AU - Giannotta, Melania
AU - Gobbi, Giuseppe
AU - Granata, Tiziana
AU - Nardocci, Nardo
AU - Ragona, Francesca
AU - Gurrieri, Fiorella
AU - Neri, Giovanni
AU - Tiziano, Francesco Danilo
AU - Vigevano, Federico
AU - Capuano, Alessandro
AU - Sartori, Stefano
AU - the IBAHC Consortium
PY - 2020/5/1
Y1 - 2020/5/1
N2 - Objective: To determine whether brain volumetric and white matter microstructural changes are present and correlate with neurological impairment in subjects with alternating hemiplegia of childhood (AHC). Methods: In this prospective single-center study, 12 AHC subjects (mean age 22.9 years) and 24 controls were studied with 3DT1-weighted MR imaging and high angular resolution diffusion imaging at 3T. Data obtained with voxel-based morphometry and tract-based spatial statistics were correlated with motor impairment using the International Cooperative Ataxia Rating Scale (ICARS) and Movement and Disability sub-scales of Burke-Fahn-Marsden Dystonia Rating Scale (BFMMS and BFMDS). Results: Compared to healthy controls, AHC subjects showed lower total brain volume (P < 0.001) and white matter volume (P = 0.002), with reduced clusters of white matter in frontal and parietal regions (P < 0.001). No significant regional differences were found in cortical or subcortical grey matter volumes. Lower cerebellar subvolumes correlated with worse ataxic symptoms and global motor impairment in AHC group (P < 0.001). Increased mean and radial diffusivity values were found in the corpus callosum, corticospinal tracts, superior and inferior longitudinal fasciculi, subcortical frontotemporal white matter, internal and external capsules, and optic radiations (P < 0.001). These diffusion scalar changes correlated with higher ICARS and BFMDS scores (P < 0.001). Interpretation: AHC subjects showed prevalent white matter involvement, with reduced volume in several cerebral and cerebellar regions associated with widespread microstructural changes reflecting secondary myelin injury rather than axonal loss. Conversely, no specific pattern of grey matter atrophy emerged. Lower cerebellar volumes, correlating with severity of neurological manifestations, seems related to disrupted developmental rather than neurodegenerative processes.
AB - Objective: To determine whether brain volumetric and white matter microstructural changes are present and correlate with neurological impairment in subjects with alternating hemiplegia of childhood (AHC). Methods: In this prospective single-center study, 12 AHC subjects (mean age 22.9 years) and 24 controls were studied with 3DT1-weighted MR imaging and high angular resolution diffusion imaging at 3T. Data obtained with voxel-based morphometry and tract-based spatial statistics were correlated with motor impairment using the International Cooperative Ataxia Rating Scale (ICARS) and Movement and Disability sub-scales of Burke-Fahn-Marsden Dystonia Rating Scale (BFMMS and BFMDS). Results: Compared to healthy controls, AHC subjects showed lower total brain volume (P < 0.001) and white matter volume (P = 0.002), with reduced clusters of white matter in frontal and parietal regions (P < 0.001). No significant regional differences were found in cortical or subcortical grey matter volumes. Lower cerebellar subvolumes correlated with worse ataxic symptoms and global motor impairment in AHC group (P < 0.001). Increased mean and radial diffusivity values were found in the corpus callosum, corticospinal tracts, superior and inferior longitudinal fasciculi, subcortical frontotemporal white matter, internal and external capsules, and optic radiations (P < 0.001). These diffusion scalar changes correlated with higher ICARS and BFMDS scores (P < 0.001). Interpretation: AHC subjects showed prevalent white matter involvement, with reduced volume in several cerebral and cerebellar regions associated with widespread microstructural changes reflecting secondary myelin injury rather than axonal loss. Conversely, no specific pattern of grey matter atrophy emerged. Lower cerebellar volumes, correlating with severity of neurological manifestations, seems related to disrupted developmental rather than neurodegenerative processes.
KW - Alternating hemiplegia of childhood
KW - Brain MRI
KW - Tract-based spatial statistics
KW - Voxel-based morphometry
KW - White matter
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U2 - 10.1007/s00415-020-09698-3
DO - 10.1007/s00415-020-09698-3
M3 - Article
C2 - 31950366
AN - SCOPUS:85083816474
VL - 267
SP - 1300
EP - 1311
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 5
ER -