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10 Possible Causes for Diffuse Hypomyelination, Mutation in the Excision Repair Cross Complementing Group 6 Gene

  • Cockayne Syndrome

    Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[orpha.net] Cockayne syndrome (CS) is a rare genetic disorder in which 80% of cases are caused by mutations in the Excision Repair Cross-Complementation group 6 gene (ERCC6).[ncbi.nlm.nih.gov] Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    System Hypomyelination Disease include: Childhood Ataxia with diffuse CNS Hypomyelination (CACH) Childhood Ataxia with diffuse Central Nervous System Hypomyelination Leukodystrophy[australasianleukodystrophyfoundation.com] Mutations in the excision-repair cross-complementing group 8 gene ( ERCC8 ) in type I or the excision-repair cross-complementing group 6 gene ( ERCC6 ) in type II result in[emedicine.medscape.com] Other Clinical Names for Vanishing White Matter Disease Other clinical names of Vanishing White Matter Disease include: Childhood Ataxia with diffuse CNS Hypomyelination ([leukodystrophyresourceresearch.org]

  • Ataxia

    Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology. 2016; 86 :1622–6. [ PMC free article : PMC4844237 ] [ PubMed : 27029625 ] La Spada AR.[ncbi.nlm.nih.gov] Mutations in the excision-repair cross-complementing group 8 gene ( ERCC8 ) in type I or the excision-repair cross-complementing group 6 gene ( ERCC6 ) in type II result in[emedicine.medscape.com]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    Hypomyelination with congenital cataracts.[ajnr.org] Mutations in the excision-repair cross-complementing group 8 gene ( ERCC8 ) in type I or the excision-repair cross-complementing group 6 gene ( ERCC6 ) in type II result in[emedicine.medscape.com] Axial FLAIR images ( A and B ) demonstrate diffuse signal-intensity abnormality ( arrows ) in the cerebellar ( A ) and cerebral ( B ) white matter.[ajnr.org]

  • Spastic Ataxia with Congenital Miosis

    MRI shows hypomyelination, as evident from the diffusely elevated T2 white-matter signal.[clinicalgate.com] Mutations in the excision-repair cross-complementing group 8 gene ( ERCC8 ) in type I or the excision-repair cross-complementing group 6 gene ( ERCC6 ) in type II result in[emedicine.medscape.com] MRI in PMD shows hypomyelination, indicated by diffusely elevated white-matter signal on T2 ( Figure 71-3A ).[clinicalgate.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    […] central nervous system hypomyelination, (CACH) X-linked AdrenoLeukodystrophy (X-ALD) Zellweger Spectrum: Zellweger Syndrome, Neonatal AdrenoLeukodystrophy, and Infantile[themorganproject.org] Mutations in the excision-repair cross-complementing group 8 gene ( ERCC8 ) in type I or the excision-repair cross-complementing group 6 gene ( ERCC6 ) in type II result in[emedicine.medscape.com] Hypomyelination with congenital cataracts.[ajnr.org]

  • X-Linked Spinocerebellar Ataxia Type 5

    Hypomyelination with congenital cataracts.[ajnr.org] Mutations in the excision-repair cross-complementing group 8 gene ( ERCC8 ) in type I or the excision-repair cross-complementing group 6 gene ( ERCC6 ) in type II result in[emedicine.medscape.com] Axial FLAIR images ( A and B ) demonstrate diffuse signal-intensity abnormality ( arrows ) in the cerebellar ( A ) and cerebral ( B ) white matter.[ajnr.org]

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 4

    Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[checkorphan.org] CSA is caused by mutations in the excision-repair, cross-complementing group 8 gene ( ERCC8 ) at 5q12 and CSB by mutations in the excision-repair, cross-complementing group[ojrd.biomedcentral.com] This aspect is consistent with hypomyelination. Note also the progressive cerebral atrophy.[ajnr.org]

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 2

    Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[checkorphan.org] CSA is caused by mutations in the excision-repair, cross-complementing group 8 gene ( ERCC8 ) at 5q12 and CSB by mutations in the excision-repair, cross-complementing group[ojrd.biomedcentral.com] This aspect is consistent with hypomyelination. Note also the progressive cerebral atrophy.[ajnr.org]

  • Autosomal Recessive Spinocerebellar Ataxia 3

    Rapid deterioration following head trauma or febrile illness, infantile to adult onset, diffusely abnormal cerebral white matter Leukodystrophy [ 137, 138 ] L-2-Hydroxyglutaric[cerebellumandataxias.biomedcentral.com] Mutations in the excision-repair cross-complementing group 8 gene ( ERCC8 ) in type I or the excision-repair cross-complementing group 6 gene ( ERCC6 ) in type II result in[emedicine.medscape.com] Transient manifestations of pellagra, cerebellar ataxia and psychosis, amino aciduria, early onset Metabolic disorder [ 136 ] Childhood ataxia with central nervous system hypomyelination[cerebellumandataxias.biomedcentral.com]

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