Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders

Catherine Sarret, Jean Jacques Lemaire, Davide Tonduti, Anna Sontheimer, Jerome Coste, Bruno Pereira, Fabien Feschet, Basile Roche, Odile Boespflug-Tanguy

Research output: Contribution to journalArticlepeer-review


Aim: 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). Method: 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. Results: 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. Interpretation: 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.

Original languageEnglish
Pages (from-to)706-713
Number of pages8
JournalDevelopmental Medicine and Child Neurology
Issue number7
Publication statusPublished - Jul 1 2016

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience


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