ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
0.020 Biomarker group BEFREE Ataxin-3-Q79 transgenic mice displayed motor dysfunction with an onset age of 5-6 months, and neurological symptoms deteriorated in the following months. 18502140 2008
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
0.020 Biomarker group BEFREE We describe three patients with the Machado-Joseph disease (MJD) genetic abnormality who had non-movement disorder neurological symptoms or signs that preceded the gait ataxia by several years. 15747372 2005