Disease #05355

Official abbreviation spastic ataxia
Name ataxia, spastic
OMIM ID -
Individuals reported having this disease 95
Phenotype entries for this disease 95
Associated with 1 gene SACS
Associated tissues -
Disease features -
Remarks -


Individuals

95 entries on 1 page. Showing entries 1 - 95.
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AscendingIndividual ID     

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Genes screened

Variants in genes

Variants     

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00144686 Pt 2-MPG PubMed: Terracciano 2008 - M no Italy - - 0 - - spastic ataxia hearing loss SACS SACS 2 1 Bernard Brais
00144687 Pt 1-LF PubMed: Terracciano 2008 - F no Italy - - 0 - - spastic ataxia hearing loss SACS SACS 2 1 Bernard Brais
00144692 Pt II-1 PubMed: Pyle 2013 - M no ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144693 Pt II-2 PubMed: Pyle 2013 - - no ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144694 Pt6 PubMed: Romano 2013 - ? ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144695 1 PubMed: McElroy 2013 - F ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144700 Pt1 PubMed: Haga 2012 - M no Japan - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144701 8 PubMed: Shimazaki 2013 - M ? Japan - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144715 Pt4 PubMed: Romano 2013 - ? ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144716 P624 PubMed: Prodi 2013 - - ? Italy - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144717 P625 PubMed: Prodi 2013 - - ? Italy - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144718 Pt3 PubMed: Gazulla 2011 - - no ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144719 Pt4 PubMed: Gazulla 2011 - - no ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144728 S1-II:1 PubMed: Chen 2013 - F ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144729 S1-II:2 PubMed: Chen 2013 - M ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144730 #10 PubMed: Synofzik 2013 - M yes Turkey - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144731 #11 PubMed: Synofzik 2013 - M no Germany - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144732 Case 1 PubMed: Romano 2013 - F ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144733 Pt8 PubMed: Romano 2013 - ? ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144734 Patient E PubMed: Yu-Wai-Man 2014 - F ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144736 2 PubMed: Anheim 2008 - ? no France - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144737 #6 PubMed: Synofzik 2013 - M no Macedonia - - 0 - - spastic ataxia - SACS SACS 3 1 Bernard Brais
00144739 Pt2 PubMed: Gazulla 2011 - - no ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144741 II-1 (case 1) PubMed: Pyle 2012 - M no ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144742 II-2 (case 2) PubMed: Pyle 2012 - F no ? (unknown) - - 0 - - spastic ataxia histology FP SACS SACS 2 1 Bernard Brais
00144745 #2 PubMed: Synofzik 2013 - F no Germany - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144749 Pt5 PubMed: Romano 2013 - ? ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144750 #5 index PubMed: Synofzik 2013 - F no Germany - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144751 #5 sister PubMed: Synofzik 2013 - F no Germany - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144752 A530 PubMed: Prodi 2013 - - ? Italy - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144753 Pt tg3 - - F ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 3 1 Bernard Brais
00144754 Pt tg4 - - F ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 3 1 Bernard Brais
00144757 Pt5 PubMed: Gazulla 2011 - - yes ? (unknown) - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144759 pt1 - - ? ? Australia - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144764 7 PubMed: Shimazaki 2013 - M ? Japan - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144765 #3 index PubMed: Synofzik 2013 - M no Greece - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144766 #3 sister PubMed: Synofzik 2013 - F no Greece - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144768 pt1 PubMed: Leavitt 2014 - M ? ? (unknown) Italian and Irish descent - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144773 Pt1 PubMed: Grieco 2004 - - no Italy - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144774 Case 2 PubMed: Masciullo 2013 - F ? Italy - - 0 - - spastic ataxia - SACS SACS 3 1 Bernard Brais
00144775 Case 1 PubMed: Masciullo 2013 case 1 in Masciullo 2013 is described as Pt1 in Masciullo 2012, but mutations differ. M ? Italy - - 0 - - spastic ataxia - SACS SACS 3 1 Bernard Brais
00144778 Pt4_F/34 PubMed: Vingolo 2011 - F no Italy - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144779 Pt5_M/28 PubMed: Vingolo 2011 - M no Italy - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144780 Pt1 PubMed: Romano 2013 - ? ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144782 Pt2 - - ? ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144790 Pt3 PubMed: Romano 2013 - ? ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144793 #9 PubMed: Synofzik 2013 - M no Germany - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144797 1 PubMed: Stevens 2013 - M ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 3 1 Bernard Brais
00144798 16198375-Pat1 PubMed: Yamamoto 2005 - - ? Japan - - 0 - - spastic ataxia early onset SACS SACS 2 1 Bernard Brais
00144799 #7 PubMed: Synofzik 2013 - F no Germany - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144801 Pt7 PubMed: Romano 2013 - ? ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144802 PPS617 PubMed: Vingolo 2011 - - ? Italy - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144806 SACS_25 PubMed: Shimazaki 2007 - - ? Japan - - 0 - - spastic ataxia no leg spasticity SACS SACS 1 1 Bernard Brais
00144808 Case 2 PubMed: Desserre 2011 - M ? France - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144813 Pt19 - - F ? Canada - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144815 Pt1 PubMed: Tzoulis 2013 - M ? Norway - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144816 Pt2 PubMed: Tzoulis 2013 - F ? Norway - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144817 Pt3 PubMed: Tzoulis 2013 - F ? Norway - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144819 P1468 PubMed: Prodi 2013 - - ? Italy - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144820 #8 PubMed: Synofzik 2013 - M no Germany - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144823 Pt tg1 - - M ? Canada - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144824 Pt tg2 - - M ? Canada - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144828 Pt1 PubMed: Garcia 2008 - M yes - - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144829 Pt2 PubMed: Garcia 2008 - F yes Spain - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144830 Case 1 PubMed: Desserre 2011 - F ? France - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144838 #1 index PubMed: Synofzik 2013 - F yes Turkey - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144839 #1 sister PubMed: Synofzik 2013 - F yes Turkey - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144840 Pt PubMed: Thiffault 2012 - M ? Canada - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144842 3 PubMed: Shimazaki 2013 - M ? Japan - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144848 II-3 PubMed: Gregianin 2013 - M yes Italy - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144849 II-4 PubMed: Gregianin 2013 - M yes Italy - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144850 ? PubMed: Masciullo 2008 - M ? Italy - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144852 Pt2 PubMed: Baets 2010 - - no Italy - - 0 - - spastic ataxia - SACS SACS 2 1 Bernard Brais
00144854 Pt VII:5 PubMed: Bouhlal 2008 - M ? Tunisia - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144855 #4 index PubMed: Synofzik 2013 - M yes Turkey - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144856 #4 brother PubMed: Synofzik 2013 - M yes Turkey - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144857 I-3 PubMed: Liew 2013 - F ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144866 Fam4/pt1 to 4 PubMed: Brahim 2011 - - ? Algeria - - 0 - - spastic ataxia - SACS SACS 1 4 Bernard Brais
00144869 Case 3 PubMed: Mignarri 2014 - M ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144870 Case 4 PubMed: Mignarri 2014 - F ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144872 Fam1/Pt1to4 PubMed: Brahim 2011 - - ? Tunisia - - 0 - - spastic ataxia - SACS SACS 1 4 Bernard Brais
00144873 IV:2 PubMed: Bouhlal 2009 - F ? Tunisia - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144874 V:1 PubMed: Bouhlal 2009 - M yes Tunisia - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144875 V:2 PubMed: Bouhlal 2009 - M yes Tunisia - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144877 P1038 PubMed: Prodi 2013 - - ? Italy - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144881 PtIV:2 PubMed: Bouhlal 2011 - M ? Tunisia - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144882 Pt1 PubMed: Gazulla 2011 - - no ? (unknown) - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00144883 Case 2 PubMed: Gazulla 2011 - M ? ? (unknown) - - 0 - - spastic ataxia - SACS SACS 1 1 Bernard Brais
00146422 - Sferra A. et al, 2018 - M no Italy - - 0 - - spastic ataxia progressive spastic ataxia and sensory motor peripheral neuropathy resembling a sacsinopathy TUBB2A TUBB2A 1 1 Fabiana Fattori
00168054 0000178601 PubMed: Gauthier 2018 - M - Canada French Canadian 31y 0 - - spastic ataxia Gait instability, chorea, dysarthria - VPS13D 2 2 Inge Meijer
00168060 LUB1.1 PubMed: Seong 2018 - F - Germany - 35y 0 - - spastic ataxia Saccadic pursuit, UL & LL ataxia , LL spasticity, Mild executive dysfunction - VPS13D 2 2 Inge Meijer
00170838 LUB1.2 PubMed: Seong 2018 - F - Germany - 29y 0 - - spastic ataxia Gait and speech difficulties, Saccadic pursuit, UL & LL ataxia, LL spasticity, wheelchair, Normal cognitive state, Gait instability, chorea, dysarthria, Mild Intellectual Disability, Dystonia - VPS13D 2 1 Inge Meijer
00170842 0000178602 PubMed: Gauthier 2018 - M - Canada French Canadian 33y 0 - - spastic ataxia Gait instability, Mild Intellectual Disability - VPS13D 2 1 Inge Meijer
00174860 NIJ 1 PubMed: Seong E 2018 - M - Netherlands - 43y 0 - - spastic ataxia Delayed walking, spastic gait - VPS13D 2 1 Inge Meijer
00176992 NIJ 3 PubMed: Seong E - M - Netherlands - 37y 0 - - spastic ataxia Delayed walking, abnormal gait, Cervical Dystonia - VPS13D 2 1 Inge Meijer
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