title: Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders.
abstract: Brain magnetic resonance imaging (MRI) motor development score (MDS) correlations were used to analyze the natural time-course of hypomyelinating PLP1-related disorders (Pelizaeus-Merzbacher disease [PMD] and spastic paraplegia type 2).
  
  
  
  Thirty-five male patients (ranging from 0.7-43.5y at the first MRI) with PLP1-related disorder were prospectively followed over 7 years. Patients were classified according to best motor function acquired before 5 years (MDS) into five categories (from PMD0 without motor acquisition to PMD4 with autonomous walking). We determined myelination and atrophy scores and measured corpus callosum area, volume of cerebellum, white matter and grey matter on 63 MRI.
  
  
  
  Age-adjusted multivariate analysis revealed that patients with PMD0-1 had higher-severity atrophy scores and smaller corpus callosum area than did patients with PMD2 and PMD3-4. Myelination score increased until 12 years. There was evidence that the mean myelination differed in frontal white matter, arcuate fibres, and internal capsules among the groups. Most patients showed worsening atrophy (brain, cerebellum, corpus callosum), whereas grey matter and white matter proportions did not change.
  
  
  
  Brain atrophy and myelination of anterior cerebral regions appear to be pertinent biomarkers of motor development. The time-course of inter- and intra-individual cerebral white matter and grey matter atrophy suggests that both oligodendrocytes and neurons are involved in the physiopathology of PLP1-related disorders.
authors.affiliation: Image-Guided Clinical Neuroscience and Connectomics (IGCNC), Clermont University, University of Auvergne, Clermont-Ferrand, France.|Department of Paediatrics, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Sarret
authors.affiliation: Image-Guided Clinical Neuroscience and Connectomics (IGCNC), Clermont University, University of Auvergne, Clermont-Ferrand, France.|Department of Neurosurgery, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Lemaire
authors.affiliation: Inserm U1141 Paris Diderot Sorbonne University-Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France.|Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.affiliation: Image-Guided Clinical Neuroscience and Connectomics (IGCNC), Clermont University, University of Auvergne, Clermont-Ferrand, France.
authors.forename: Anna
authors.initials: A
authors.lastname: Sontheimer
authors.affiliation: Image-Guided Clinical Neuroscience and Connectomics (IGCNC), Clermont University, University of Auvergne, Clermont-Ferrand, France.
authors.forename: Jerome
authors.identifier: 0000-0002-3262-0867
authors.initials: J
authors.lastname: Coste
authors.affiliation: Image-Guided Clinical Neuroscience and Connectomics (IGCNC), Clermont University, University of Auvergne, Clermont-Ferrand, France.|Biostatistics Unit (DRCI), Clermont-Ferrand University Hospital, Clermont-Ferrand, France.
authors.forename: Bruno
authors.initials: B
authors.lastname: Pereira
authors.affiliation: Image-Guided Clinical Neuroscience and Connectomics (IGCNC), Clermont University, University of Auvergne, Clermont-Ferrand, France.
authors.forename: Fabien
authors.initials: F
authors.lastname: Feschet
authors.affiliation: Image-Guided Clinical Neuroscience and Connectomics (IGCNC), Clermont University, University of Auvergne, Clermont-Ferrand, France.
authors.forename: Basile
authors.initials: B
authors.lastname: Roche
authors.affiliation: Inserm U1141 Paris Diderot Sorbonne University-Paris Cité, DHU PROTECT, Robert Debré Hospital, Paris, France.|Department of Child Neurology and Metabolic Diseases, Leukodystrophies Reference Centre, Robert Debré Hospital, Paris, France.
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001284:Atrophy / Q000000981:diagnostic imaging / Q000209:etiology; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002540:Cerebral Cortex / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D018450:Disease Progression; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000000981:diagnostic imaging / Q000209:etiology*; D009186:Myelin Sheath / Q000473:pathology*; D020371:Pelizaeus-Merzbacher Disease / Q000145:classification / Q000150:complications* / Q000000981:diagnostic imaging*; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric; D055815:Young Adult