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82 Possible Causes for Subcortical Hypomyelination

  • West Syndrome

    Treatment with oral L-serine abolished seizures and improved psychomotor development, hyperexcitability, head growth, cortical and subcortical hypotrophy, and hypomyelination[ncbi.nlm.nih.gov]

  • Binswanger Disease

    Fragile X Premutation 406 Hypomelanosis of Ito 409 Incontinentia Pigmenti 412 Alexander Disease 416 Giant Axonal Neuropathy 436 Megalencephalic Leukoencephalo pathy with Subcortical[books.google.ro] Myotonic Dystrophy Type I 469 Myotonic Dystrophy Type 2 473 Xlinked CharcotMarieTooth 478 Oculodentodigital Dysplasia 479 AicardiGoutières Syndrome 496 Leukoencephalopathy 505 Hypomyelination[books.google.ro]

  • Hereditary Hyperekplexia

    AD/AR 5 5 HTRA1 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2), Cerebral autosomal recessive arteriopathy with subcortical infarcts[blueprintgenetics.com] […] spinal cord involvement and leg spasticity AR 11 17 DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation AR 27 61 DCX Lissencephaly, Subcortical[blueprintgenetics.com] […] lipofuscinosis AR 8 11 CUL4B Mental retardation, syndromic, Cabezas XL 23 38 CYP27A1 Cerebrotendinous xanthomatosis AR 69 110 D2HGDH D-2-hydroxyglutaric aciduria 1 AR 13 33 DARS Hypomyelination[blueprintgenetics.com]

  • CODAS Syndrome

    Larsen syndrome Hands of a person with Larsen syndrome: Note the joint abnormalities of the left hand. Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients. [1] Patients with Larsen[…][en.wikipedia.org]

  • New-Onset Refractory Status Epilepticus

    Magnetic resonance imaging (MRI) documented thinning of the corpus callosum, hypomyelination of the semi-oval centers, extensive and multifocal subcortical malacic areas and[ccrejournal.eu]

  • Spastic Quadriplegic Cerebral Palsy Type 2

    , Lymphedema, hereditary, Spastic paraplegia HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts, remitting HSPD1 Leukodystrophy, hypomyelinating, Spastic paraplegia[genda.com.ar] […] complex I deficiency NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) PLP1 Pelizaeus-Merzbacher disease, Spastic paraplegia POLR3A[genda.com.ar] L2HGDH L-2-hydroxyglutaric aciduria MARS2 Combined oxidative phosphorylation deficiency MLC1 Megalencephalic leukoencephalopathy with subcortical cysts NDUFAF5 Mitochondrial[genda.com.ar]

  • Hyperalaninemia

    […] of the subcortical frontoparietal white matter.[emedicine.medscape.com] Magnetic resonance spectroscopy Brain MR spectroscopy shows high lactate levels, as well as levels of N -acetylaspartate and choline consistent with hypomyelination.[emedicine.medscape.com] Type A is associated with symmetrical cystic lesions and gliosis in the cortex, basal ganglia, brainstem, or cerebellum and/or generalized hypomyelination, as well as hyperintensity[emedicine.medscape.com]

  • Multiple Carboxylase Deficiency

    Fragile X Premutation 406 Hypomelanosis of Ito 409 Incontinentia Pigmenti 412 Alexander Disease 416 Giant Axonal Neuropathy 436 Megalencephalic Leukoencephalo pathy with Subcortical[books.google.com] 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]

  • Emery-Dreifuss Muscular Dystrophy Type 2

    , Lymphedema, hereditary, Spastic paraplegia HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts, remitting HSPD1 Leukodystrophy, hypomyelinating, Spastic paraplegia[genda.com.ar] […] complex I deficiency NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) PLP1 Pelizaeus-Merzbacher disease, Spastic paraplegia POLR3A[genda.com.ar] L2HGDH L-2-hydroxyglutaric aciduria MARS2 Combined oxidative phosphorylation deficiency MLC1 Megalencephalic leukoencephalopathy with subcortical cysts NDUFAF5 Mitochondrial[genda.com.ar]

  • Myoclonic Jerking

    , Lymphedema, hereditary, Spastic paraplegia HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts, remitting HSPD1 Leukodystrophy, hypomyelinating, Spastic paraplegia[genda.com.ar] […] complex I deficiency NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) PLP1 Pelizaeus-Merzbacher disease, Spastic paraplegia POLR3A[genda.com.ar] L2HGDH L-2-hydroxyglutaric aciduria MARS2 Combined oxidative phosphorylation deficiency MLC1 Megalencephalic leukoencephalopathy with subcortical cysts NDUFAF5 Mitochondrial[genda.com.ar]

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