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523 Possible Causes for Defective Myelination

  • PGM3-Related Congenital Disorder of Glycosylation

    defect, meningoencephalopathy, febrile seizure, prolonged VEP Low IQ, developmental delay, ataxia, CNS myelination defect, autism, febrile seizure Pulmonary Renal Hematologic[mafiadoc.com] (Continued) Neurologic Connective tissue Low IQ, dysarthria, ataxia, myoclonus, sensorineural hearing loss, CNS myelination defect, abnormal EEG, prolonged VEP Scoliosis,[mafiadoc.com] […] degenerative disc disease, dilated aortic root Bronchiectasis MPGN on hemodialysis Low IQ, dysarthria, ataxia, myoclonus, sensorineural hearing loss, CNS myelination defect[mafiadoc.com]

  • Amblyopia

    All of the patients had an afferent pupillary defect in the eye with myelinated nerve fibers.[ncbi.nlm.nih.gov] Pupillary responses to light were recorded in three patients with unilateral extensive myelinated nerve fibers and amblyopia by means of binocular infrared video pupillography[ncbi.nlm.nih.gov]

  • Multiple Sclerosis

    Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations[ncbi.nlm.nih.gov]

  • Arthrogryposis Multiplex Congenita

    defective myelination of the peripheral axons during fetal development.[ncbi.nlm.nih.gov] The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect.[uniprot.org] Morpholino knockdown of the zebrafish orthologs led to severe and specific defects in peripheral myelin in spite of the presence of Schwann cells.[ncbi.nlm.nih.gov]

  • Pyruvate Carboxylase Deficiency

    Postmortem studies of the brain demonstrated defective myelination and decreased neuron numbers. Affected regions include the cortex, cerebellum and basal ganglia.[symptoma.com] myelin disorders. ures: our friends Susan Blaser,from the Hospital for This immense progress has prompted us to embark Sick Children in Toronto,and Zoltán Patay,from the[books.google.com] Two colleagues were particularly helpful ledge of genetic defects, biochemical abnormalities, and provided us with essential and unpublished f- and cellular processes underlying[books.google.com]

  • Hemimegalencephaly

    Also noted some precontrast white matter hyperintensity probably due to defective myelination. The ventricular system on the left side are enlarged.[slideshare.net] Also noted some precontrast white matter hyperintensity probably due to defective myelination. Subcortical band heterotopias are probably present. 2. Figure 2.[slideshare.net]

  • Neuronal Ceroid Lipofuscinosis

    Neuronal ceroid lipofuscinosis ( nclf ) nclf/nclf mice develop progressive ataxia defects, myelination defects, neurodegeneration, neuromuscular defects and retinal degeneration[jax.org]

  • Neurogenic Arthrogryposis Multiplex Congenita

    The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect.[uniprot.org] CLNDBN Arthrogryposis multiplex congenita, neurogenic, with myelin defect[snpedia.com]

  • CHARGE Syndrome

    They have shown that CHD7 is absent, oligodendrocytes remain blocked in an immature stage, which leads to the observed myelination defects.[icm-institute.org] This new potential therapeutic target could lead to the development of new treatments for people suffering from diseases due to myelination defects.[icm-institute.org] Most patients with CHARGE syndrome show alterations of the central nervous system, with white matter defects and the formation of the myelin sheath, substance surrounding[icm-institute.org]

  • Neuromuscular Junction Disorder

    myelination with onion bulbs of demyelination and remyelination with abundant Schwann cells.[lecturio.com] Diagnosis is made through nerve conduction studies , which show slow conduction of 60% normal in both sensory and motor nerves in type 1 CMT while a nerve biopsy shows defective[lecturio.com]

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