FXN, frataxin, 2395

N. diseases: 220; N. variants: 21
Disease: Autosomal dominant cerebellar ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		0.020 Biomarker disease BEFREE We used single photon emission tomography to study regional cerebral perfusion in patients with different forms of spinocerebellar degeneration: 6 patients with Friedreich's ataxia (FA), 6 with early-onset cerebellar ataxia with retained tendon reflexes (EOCA), 5 with autosomal dominant cerebellar ataxia type 1 (ADCA I) and 11 with idiopathic late-onset cerebellar ataxia (ILOCA). 9758299 1998
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		0.020 Biomarker disease BEFREE We included patients suffering from Friedreich's ataxia (FRDA, n = 83), early onset cerebellar ataxia (EOCA, n = 30), autosomal dominant cerebellar ataxia (ADCA) type I (ADCA-I, n = 273), ADCA-III (n = 13) and multiple system atrophy (MSA, n = 67). 9577387 1998