X linked ataxias: types

Evidence-based neurology checklist on x linked ataxias: types: Major X linked ataxias Fragile X tremor ataxia syndrome (FXTAS) Ataxia with spastic diplegia X-linked recessive ataxia and adult-onset dementia X-linked adrenoleukodystrophy mutations X-linked spinocerebellar ataxia (SCA-X1) X-linked…

Major X linked ataxias

  • Fragile X tremor ataxia syndrome (FXTAS)
  • Ataxia with spastic diplegia
  • X-linked recessive ataxia and adult-onset dementia
  • X-linked adrenoleukodystrophy mutations
  • X-linked spinocerebellar ataxia (SCA-X1)
  • X-linked recessive congenital ataxia
  • X-Linked mental retardation, microcephaly, epilepsy, and ataxia
  • Infantile X-linked ataxia and deafness
  • Arts Syndrome
  • Rett syndrome
  • Ataxia-Dementia (SCAX4)

Rarer X linked ataxias

References

  1. Gasser T, Finstererb J, Baetsc J, et al. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010; 17:179-188.
  2. Marmolino D, Manto M. Past, present and future therapeutics for cerebellar ataxias. Curr Neuropharmacol 2010; 8:41-61.
  3. Apak S, Yüksel M, Ozmen M, Saka N, Darendeliler F, Neuhäuser G. Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia. Am J Med Genet 1989; 34:155-158.
  4. Farlow MR, DeMyer W, Dlouhy SR, Hodes ME. X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis. Neurology 1987; 37:602-607.
  5. Dunne E, Hyman NM, Huson SM, Németh AH. A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. Ann Neurol 1999; 45:652-655.
  6. And 10 more. Subscribe to see the full list

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