Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.070 GeneticVariation phenotype BEFREE Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity. 30389403 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.070 Biomarker phenotype BEFREE A reduction of calcium influx into the cytosol of Purkinje cells rescues ataxia in an AFG3L2-deficient mouse model. 29451229 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.070 GeneticVariation phenotype BEFREE Whole-exome sequencing identified a novel, heterozygous p.(Gly671Trp) mutation in the AFG3L2 gene encoding an mt protease--previously associated with dominant spinocerebellar ataxia type 28 disease--in a patient with indolent ataxia and PEO. 25420100 2015
CUI: C0004134
Disease: Ataxia
Ataxia 		0.070 GeneticVariation phenotype BEFREE To examine the occurrence of SCA28 in the Czech Republic, we screened 288 unrelated ataxic patients with hereditary (N = 49) and sporadic or unknown (N = 239) form of ataxia for mutations in exons 15 and 16, the AFG3L2 mutation hotspots. 24272953 2014
CUI: C0004134
Disease: Ataxia
Ataxia 		0.070 GeneticVariation phenotype BEFREE SCA28 is an autosomal dominant ataxia associated with AFG3L2 gene mutations. 23777634 2013
CUI: C0004134
Disease: Ataxia
Ataxia 		0.070 GeneticVariation phenotype BEFREE Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. 20354562 2010
CUI: C0004134
Disease: Ataxia
Ataxia 		0.070 Biomarker phenotype BEFREE Here we report an early-onset severe neurological phenotype in Spg7(-/-) Afg3l2(Emv66/+) mice, characterized by loss of balance, tremor and ataxia. 19289403 2009