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Results 1 - 10 of 39 for Autosomal recessive cerebellar ataxia
  1. Autosomal recessive cerebellar ataxia type 1 
    Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss ( ... JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1): ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics
  2. VLDLR-associated cerebellar hypoplasia 
    ... not show signs and symptoms of the condition. Autosomal recessive cerebellar ataxia with mental retardation Autosomal recessive cerebellar hypoplasia with ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
  3. SYNE1 gene 
    ... the SYNE1 gene have been found to cause autosomal recessive cerebellar ataxia type 1 (ARCA1). All the mutations that have ... JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1): ...
    https://medlineplus.gov/genetics/gene/syne1 - Genetics
  4. Cerebellar Disorders (National Library of Medicine)  
    When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
    https://medlineplus.gov/cerebellardisorders.html - Health Topics
  5. Ataxia with oculomotor apraxia 
    ... Le Ber I, Brice A, Durr A. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Curr Neurol Neurosci Rep. 2005 ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  6. Alpha-methylacyl-CoA racemase deficiency 
    ... R, Chinnery PF. AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. Neurology. 2011 May 17;76(20):1768-70. ...
    https://medlineplus.gov/.../alpha-methylacyl-coa-racemase-deficiency - Genetics
  7. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... A, Richter A, Leshinsky E, Berkovic SF. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
  8. AMACR gene 
    ... R, Chinnery PF. AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. Neurology. 2011 May 17;76(20):1768-70. ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics
  9. VLDLR gene 
    ... JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol. ...
    https://medlineplus.gov/genetics/gene/vldlr - Genetics
  10. Gordon Holmes syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Cerebellar ataxia and hypogonadotropic hypogonadism Deficiency of luteinizing hormone-releasing ...
    https://medlineplus.gov/genetics/condition/gordon-holmes-syndrome - Genetics
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