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Results 1 - 10 of 22 for Progressive truncal ataxia
Did you mean Progressive truncus ataxia?
  1. CACNA1A gene 
    ... variants. The major features of this condition include progressive ataxia, nystagmus, and impaired speech (dysarthria), most often beginning ... JC, Baloh RW. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Neurology. 2005 Jun ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  2. FOLR1 gene 
    ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  3. PRICKLE1 gene 
    ... mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83( ...
    https://medlineplus.gov/genetics/gene/prickle1 - Genetics
  4. COQ8B gene 
    ... Smeets H. Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion. 2010 Aug;10(5):510- ...
    https://medlineplus.gov/genetics/gene/coq8b - Genetics
  5. FMR1 gene 
    ... tremor/ataxia syndrome (FXTAS). FXTAS is characterized by progressive problems with movement (ataxia), tremor, memory loss, reduced sensation in the lower ...
    https://medlineplus.gov/genetics/gene/fmr1 - Genetics
  6. ATM gene 
    ... cause ataxia-telangiectasia. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood. People with this disorder ...
    https://medlineplus.gov/genetics/gene/atm - Genetics
  7. OPA1 gene 
    ... weakness in the muscles that control eye movement (progressive external ophthalmoplegia), difficulty with balance and coordination (ataxia), disturbances in the nerves used for muscle movement ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  8. DNMT1 gene 
    ... Smith AM, Warman Chardon J. Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration. Neuropsychology. 2017 Mar;31( ...
    https://medlineplus.gov/genetics/gene/dnmt1 - Genetics
  9. ATXN2 gene 
    ... repeated approximately 22 times within the gene. Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. SCA2 results from a mutation ...
    https://medlineplus.gov/genetics/gene/atxn2 - Genetics
  10. ATXN3 gene 
    ... the first stage of protein production (transcription). Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. SCA3 results from a mutation ...
    https://medlineplus.gov/genetics/gene/atxn3 - Genetics
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