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Results 1 - 10 of 26 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. 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
  4. 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
  5. 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
  6. 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
  7. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... 2004 May 20. Citation on PubMed Takiyama Y. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuropathology. 2006 Aug;26(4):368-75. doi: 10.1111/j.1440-1789.2006.00664.x. Citation on PubMed Takiyama Y. Sacsinopathies: sacsin-related ataxia. Cerebellum. 2007;6(4):353-9. doi: 10.1080/ ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  8. CLCN2-related leukoencephalopathy 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of ... with mild cerebellar ataxia and white matter edema Leukoencephalopathy with white ...
    https://medlineplus.gov/.../clcn2-related-leukoencephalopathy - Genetics
  9. Boucher-Neuhäuser syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one ... BNHS BNS Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome Chorioretinal ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - Genetics
  10. Charcot-Marie-Tooth disease 
    ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE ... ATAXIA; CMTX4 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
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