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inherited ataxias

Classification

- autosomal recessive ataxias

  • Friedreich ataxia
  • ataxia telangiectasia
  • sensory ataxias and spinocerebellar ataxias
    • ataxia with isolated vitamin E deficiency
    • abetalipoproteinemia
    • Refsum disease
    • infantile-onset spinocerebellar ataxia
    • ataxia with blindness and deafness
  • cerebellar ataxia with sensory-motor polyneuropathy
    • ataxia with oculomotor apraxia 1 and 2
    • spinocerebellar ataxia with neuropathy 1
  • cerebellar ataxias
    • autosomal recessive spastic ataxia of Charlevoix-Saguenay
    • ataxia with hypogonadotropic hypogonadism

References

- Furtado S, Das S, Suchowersky O. A review of the inherited ataxias: recent advances in genetic, clinical and neuropathologic aspects. Parkinsonism Relat Disord. 1998 Dec;4(4):161-9.PMID: #18591106#

- Taroni F, DiDonato S. Pathways to motor incoordination: the inherited ataxias. Nat Rev Neurosci. 2004 Aug;5(8):641-55. PMID: #15263894#

- Koenig M. Rare forms of autosomal recessive neurodegenerative ataxia. Semin Pediatr Neurol. 2003 Sep;10(3):183-92. PMID: #14653406#