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80 Possible Causes for Cerebrospinal Fluid Protein Increased, Hypomyelination

  • Déjerine-Sottas Disease

    , consistent with congenital hypomyelination neuropathy (CHN).[ncbi.nlm.nih.gov] They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy.[ncbi.nlm.nih.gov] A sural nerve biopsy specimen showed marked decreases in the numbers of both large and small myelinated fibers, abundant onion-bulb formation, and hypomyelination.[ncbi.nlm.nih.gov]

  • Peripheral Neuropathy

    Magnetic resonance imaging showed cortical disturbances in addition to profound hypomyelination and cerebellar atrophy.[ncbi.nlm.nih.gov] […] asymmetric demyelinating-type peripheral neuropathy, and sural nerve biopsy documented reduced myelinated nerve fiber density with uniformly thin myelin sheaths, suggesting hypomyelination[ncbi.nlm.nih.gov] We describe a consanguineous girl exhibiting severe developmental regression, intractable epilepsy, polyneuropathy, and profound hypomyelination with cortical involvement.[ncbi.nlm.nih.gov]

  • Alexander Disease

    It can be considered, in large part, as a deficiency of normal myelination or hypomyelination, rather than demyelination.[medifitbiologicals.com] He had megalencephaly, psychomotor retardation, seizures, and increasing elevation of increasing alpha-B crystallin and heat shock protein 27 in the cerebrospinal fluid.[ncbi.nlm.nih.gov] 27 in the cerebrospinal fluid.[ncbi.nlm.nih.gov]

  • Multiple Sclerosis

    Defective oligodendrocyte development and severe hypomyelination in PDGF-A knockout mice. Development. 1999; 126 :457–67. [ PubMed ] [ Google Scholar ] 28.[ncbi.nlm.nih.gov] Nitric oxide synthase is present in the cerebrospinal fluid of patients with active multiple sclerosis and is associated with increases in cerebrospinal fluid protein nitrotyrosine[ncbi.nlm.nih.gov] Increased cerebrospinal fluid tau protein in multiple sclerosis. Eur Neurol 2000; 43(4): 228–32 PubMed CrossRef Google Scholar 107.[doi.org]

  • Globoid Cell Leukodystrophy

    Agreement was higher (73%) for hypomyelinating disorders.[ajnr.org] A typically increased protein concentration of 1.9g/l was found in the cerebrospinal fluid.[thieme-connect.com] They are followed by opisthotonos, less of tendon reflexes, visual failure, elevated cerebrospinal fluid proteins, and delayed nerve conduction velocity.[icd10data.com]

  • Leukodystrophy

    […] in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating[ncbi.nlm.nih.gov] They are followed by opisthotonos, less of tendon reflexes, visual failure, elevated cerebrospinal fluid proteins, and delayed nerve conduction velocity.[icd9data.com] Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development.[ncbi.nlm.nih.gov]

  • Pelizaeus-Merzbacher Disease

    Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes.[ncbi.nlm.nih.gov] They are followed by opisthotonos, less of tendon reflexes, visual failure, elevated cerebrospinal fluid proteins, and delayed nerve conduction velocity.[icd9data.com] A diffuse pattern of hypomyelination is seen on magnetic resonance imaging (MRI) of PMD/SPG2 patients.[ncbi.nlm.nih.gov]

  • Lead Poisoning

    […] and prolonged lead toxicity causes significant changes in the structure of myelin cells. 9 An overview of research concluded that the effect of lead poisoning is one of "hypomyelination[web.archive.org] ., 2001 ) and, in vivo, causes hypomyelination and demyelination ( Coria et al ., 1984 ).[web.archive.org]

  • Hereditary Areflexic Dystasia

    In contrast to the findings in younger patients, in their nerve biopsies, myelin thickness tended to be relatively reduced for axon size, indicating remyelination and/or hypomyelination[doi.org] DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes[abcam.com] […] can also cause other forms of CMT (Charcot-Marie-Tooth type 1 and 2, Dejerine–Sottas neuropathy, hereditary neuropathy with liability to pressure palsies, and congenital hypomyelinating[rarediseases.info.nih.gov]

  • X-Linked Spastic Paraplegia Type 34

    Myotonic Dystrophy Type I 469 Myotonic Dystrophy Type 2 473 Xlinked CharcotMarieTooth 478 Oculodentodigital Dysplasia 479 AicardiGoutières Syndrome 496 Leukoencephalopathy 505 Hypomyelination[books.google.com] , although increased protein is noted in some patients.[emedicine.medscape.com] AD/AR 26 57 HACE1 Spastic paraplegia and psychomotor retardation with or without seizures AR 13 13 HSPD1 * Spastic paraplegia, Leukodystrophy, hypomyelinating AD/AR 5 5 IBA57[blueprintgenetics.com]

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