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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Leukodystrophies: Hypomyelination with basal ganglia and cerebellar atrophy syndrome (H-ABC).Pelizaeus–Merzbacher disease (PMzD).POLR3-related leukodystrophy.BCAP31 mutations.Metachromatic leukodystrophy (MLD).Krabbe's disease (KD).Xeroderma pigmentosum (XP).Aicardi–Goutières syndrome (AGS).
Associated disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Pelizaeus-Merzbacher disease can be diagnosed on the basis of clinical evaluation, a detailed family history and a range of specialist tests, including an MRI scan of the brain (which shows very delayed or even absent myelination) and a search for an alteration in the PLP gene (which may be either a duplication of the gene or a fault within the gene itself).
The Cerebellar Ataxias and Hereditary Spastic Paraplegias
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
A rapidly progressive spastic paraplegia of childhood with optic atrophy is caused by a gene on chromosome Xq21. This condition, some cases of pure X-linked HSP and Pelizaeus Merzbacher disease are all caused by mutations of the PLP gene (see above). Different PLP gene mutations are associated with different phenotypes. The PLP gene encodes two proteins required for myelin synthesis, PLP and an isoform, DM-20.
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
Published in Expert Review of Neurotherapeutics, 2020
Mahmoud Reza Ashrafi, Man Amanat, Masoud Garshasbi, Reyhaneh Kameli, Yalda Nilipour, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli
The first report from a heritable white matter disorder goes back over a century when a familial form of a chronic progressive diffuse sclerosis with myelin defect and sclerotic stiffness in the white matter was described [5–7]. This condition is now known as Pelizaeus‐Merzbacher disease. The term “leukodystrophy” was then defined as the hereditary, progressive degeneration of CNS white matter in 1928 in the context of metachromatic disease [7,8]. The definition was then updated in 1984 to a genetic-derived condition primarily affecting myelin or oligodendroglial cells with progressive functional deterioration [9]. This definition is now modified to “any defined heritable disorder affecting first and foremost the white matter of CNS irrespective of peripheral nervous system involvement” [1,2].
Clinical implications of myelin regeneration in the central nervous system
Published in Expert Review of Neurotherapeutics, 2018
Christopher E McMurran, Srikirti Kodali, Adam Young, Robin JM Franklin
While all of the above conditions involve the degeneration of healthy myelin by external factors, primary demyelination can also result from genetic disorders that compromise the integrity of oligodendrocytes or the myelin they produce and maintain. Some of these directly affect protein components of the myelin sheath, for example Pelizaeus–Merzbacher disease (PMD), which is caused by a mutant form of the myelin-constituent proteolipid protein (PLP) [27]. Other mutations affect cellular lipid turnover, and tend to affect oligodendrocytes due to the careful coordination required in these metabolic pathways to produce and maintain a myelin sheath [28]. Examples include the lysosomal storage disorders (such as Krabbe’s disease, Tay–Sachs disease, and metachromatic leukodystrophy (MLD)) as well as extra-lysosomal errors in lipid metabolism (such as adrenoleukodystrophy and Canavan’s disease). These are generally present in childhood, as myelination is defective throughout development.