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14
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Dysmetria
- ... with a nervous system disorder called autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN). Features of this disorder ... a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Clin Epigenetics. 2016 Sep 5; ...
- ... gene have been found to cause autosomal recessive cerebellar ataxia type 1 (ARCA1). All the mutations that have ... GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1): ...
- ... sexual development (hypogonadotropic hypogonadism) and difficulty coordinating movements (cerebellar ataxia). Many people with Gordon Holmes syndrome caused by ...
- ... epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function that typically ... the brain leads to the development of epilepsy, cerebellar ataxia, and other signs and symptoms in adolescence or ...
- ... Hellier K, Hammans S, May A. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation ...
- ... frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. Orphanet ...
- ... the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms ...
- ... Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the ...
- ... Beis JM, Brice A, Koenig M, Durr A. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic ...
- ... H. Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion. 2010 Aug;10(5):510- ...