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59 results

  1. Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1258
    ... descending tracts Childhood cerebral form of X-linked adrenoleukodystrophy ABCD1 XL Extensive or diffuse cerebral WM changes ... of nomenclature. 1. Genes are in alphabetic order. References Literature Cited Alamri H, Al Mutairi F, Alothman ...
  2. Sepiapterin Reductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK304122
    ... sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. JIMD Rep 2012;3:79-82. [ PMC free ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  3. Primary Hyperoxaluria Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1283
    ... Zellweger spectrum disorder (ZSD) including cerebrohepatorenal syndrome, neonatal adrenoleukodystrophy, and Refsum disease. Among a Dutch cohort of ... posted live 4 January 2002 (rmh) Original submission References Literature Cited Al-Abadi E, Hulton SA. Extracorporal ...
  4. TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5942
    ... myelopathy, hereditary spastic paraplegia , adrenomyeloneuropathy (see X-Linked Adrenoleukodystrophy), and cerebrotendinous xanthomatosis in individuals with isolated manifestations ...
  5. Usher Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1265
    ... AR SNHL RP Hypotonia Overlapping phenotype w/neonatal adrenoleukodystrophy, infantile Refsum disease, & Zellweger spectrum disorder PRPS1 PRPS1 ... posted live 19 February 1999 (wk) Original submission References Published Guidelines / Consensus Statements American College of Medical ...
  6. Arylsulfatase A Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1130
    ... Gene Disorder MOI Clinical Characteristics ABCD1 X-linked adrenoleukodystrophy (ALD) XL Childhood cerebral ALD : Manifests most commonly ... posted live 15 November 2004 (mf) Original submission References Published Guidelines / Consensus Statements Wang RY, Bodamer OA, ...
  7. C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK268647
    ... myelopathy, hereditary spastic paraplegia, adrenomyeloneuropathy (see X-Linked Adrenoleukodystrophy ), and cerebrotendinous xanthomatosis in individuals with isolated manifestations ...
  8. Spinal and Bulbar Muscular Atrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1333
    ... Disorders ), and the adrenomyeloneuropathy variant of X-linked adrenoleukodystrophy ; however, these disorders are quite different from SBMA. ... posted live 15 December 1998 (als) Original submission References Published Guidelines / Consensus Statements Committee on Bioethics, Committee ...
  9. CSF1R-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100239
    ... early-onset CSF1R -related disorder ABCD1 X-linked adrenoleukodystrophy XL Cognitive decline, dementia Spastic paraparesis Neuropathy & slowly ... posted live 23 May 2012 (zkw) Original submission References Literature Cited Aharony SM, Lam O, Corcos J. ...
  10. AARS2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK608563
    ... Demyelination in brain stem & cerebellum ABCD1 X-linked adrenoleukodystrophy XL Cognitive decline Pyramidal signs Neuropathy WML are ... posted live 25 July 2024 (zw) Original submission References Literature Cited Axelsen TM, Vammen TL, Bak M, ...
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