Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 GeneticVariation phenotype BEFREE The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia. 30098094 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 Biomarker phenotype BEFREE Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>. 31068484 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 GeneticVariation phenotype BEFREE Our findings widen the spectrum of SPG7 mutations of ARHSP and indicate that the SPG7 mutation is an important cause of adult-onset undiagnosed ataxia. 30497413 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 CausalMutation phenotype CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 Biomarker phenotype BEFREE Additional clinical features were noted, including optic atrophy and ataxia for patients with SPG5 and ataxia and a chronic progressive external ophthalmoplegia-like phenotype for SPG7. 23812641 2013
CUI: C0004134
Disease: Ataxia
Ataxia 		0.150 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