Disease #05356 (ataxia (ataxia))

Official abbreviation ataxia
Name ataxia
OMIM ID -
Inheritance -
Individuals reported having this disease 184
Phenotype entries for this disease 175
Associated with 1 gene SACS
Associated tissues -
Disease features -
Remarks -
Date created 2017-12-21 19:14:03 +01:00 (CET)
Date last edited N/A


Individuals

184 entries on 2 pages. Showing entries 1 - 100.
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00144704 18465152-Fam07 PubMed: Vermeer 2008 - - yes Netherlands Dutch - - - - ataxia - SACS SACS 1 7 Johan den Dunnen
00144709 Pt2 PubMed: Guernsey 2010 - - ? Canada Maritime provinces - - - - ataxia - SACS SACS 1 1 Bernard Brais
00144710 Pt3 PubMed: Guernsey 2010 - - - Canada Maritime provinces - - - - ataxia - SACS SACS 1 1 Bernard Brais
00144711 Pt1 PubMed: Guernsey 2010 - - ? Canada Maritime provinces - - - - ataxia - SACS SACS 1 1 Bernard Brais
00144712 Pt4 PubMed: Guernsey 2010 - - ? Canada Maritime provinces - - - - ataxia - SACS SACS 2 1 Bernard Brais
00144713 Pt5 PubMed: Guernsey 2010 - - ? Canada Maritime provinces - - - - ataxia - SACS SACS 2 1 Bernard Brais
00144714 Pt6 PubMed: Guernsey 2010 - - ? Canada Maritime provinces - - - - ataxia - SACS SACS 2 1 Bernard Brais
00144738 Pt NG9.1 PubMed: Baets 2010 family, 3 affecteds - yes Morocco - - - - - ataxia - SACS SACS 2 3 Johan den Dunnen
00144744 18465152-Fam2 PubMed: Vermeer 2008 - - yes Netherlands - - - - - ataxia - SACS SACS 1 1 Johan den Dunnen
00144746 FAM11 PubMed: Vermeer 2008 - - no Netherlands - - - - - ataxia - SACS SACS 1 1 Bernard Brais
00144756 SACS_14 PubMed: Shimazaki 2005 - - ? Japan - - - - - ataxia early onset SACS SACS 1 1 Bernard Brais
00144769 Pt7 PubMed: Guernsey 2010 - - ? Australia - - - - - ataxia - SACS SACS 1 1 Bernard Brais
00144832 SACS_19 PubMed: Hara 2005 - - ? Japan - - - - - ataxia - SACS SACS 1 1 Bernard Brais
00144853 SACS_60 PubMed: Bouhlal 2008 - - ? Tunisia - - - - - ataxia - SACS SACS 1 1 Bernard Brais
00144858 Pt8 PubMed: Guernsey 2010 - - ? Australia - - - - - ataxia - SACS SACS 1 1 Bernard Brais
00144876 SACS_23 PubMed: Yamamoto 2006 - - ? Japan - - - - - ataxia - SACS SACS 1 1 Bernard Brais
00150112 - - - M yes Turkey - 01y - - - ataxia T-B-NK+SCID Ataxia ATM ATM 1 1 Sinem Firtina
00168055 UM1.1 PubMed: Gauthier 2018 - M - Slovenia - 54y - - - ataxia Cerebellar ataxia, Gait and Reading difficulties, Dysarthria, LL & UL ataxia, Mild cerebellar atrophy - VPS13D 2 5 Inge Meijer
00168056 UM1.2 PubMed: Seong 2018 - M - Slovenia - 52y - - - ataxia Mild Cerebellar atrophy, Dysarthria, UL & LL ataxia - VPS13D 2 1 Inge Meijer
00168057 UM1.3 PubMed: Seong 2018 - F - Slovenia - 50y - - - ataxia Mild cerebellar atrophy, Dysarthria, UL & LL ataxia - VPS13D 2 1 Inge Meijer
00168058 UM1.4 PubMed: Seong 2018 - M - Slovenia - 49y - - - ataxia Mild cerebellar atrophy, Dysarthria, UL & LL ataxia - VPS13D 2 1 Inge Meijer
00168059 UM1.5 PubMed: Seong 2018 - M - Slovenia - 47y - - - ataxia Reading difficulty, dysarthria, UL & LL ataxia, - VPS13D 2 1 Inge Meijer
00170845 0000178607 PubMed: Gauthier 2018 - F - - Italian, Welsh, Irish, Yougoslavian, African American 00y22m - - - ataxia Hypotonia, Global Developmental Delay, microcephaly, ataxia - VPS13D 2 1 Inge Meijer
00177026 NIJ 4 - - F - Netherlands - 06y - - - ataxia Developpemental delay, Mild ID, Cerebellar atrophy - VPS13D 2 1 Inge Meijer
00177027 WF1 PubMed: Seong E 2018 - F - - white 02y - - - ataxia Delayed gross motor skills, - VPS13D 2 1 Inge Meijer
00181224 R_3218 PubMed: Krygier 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents/relative M no Poland white - - - - ataxia see paper; ..., HP:0002497, HP:0012736, HP:0001256 - MTCL1 1 1 Rafał Płoski
00207916 VI:17 - - M no Spain Canarian Island 70y - - - ataxia - SYNE1 SYNE1 1 31 Carmen Palma
00208232 - PubMed: Kors 2001 - F - United Kingdom (Great Britain) - - - - no treatment known ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, ataxia CACNA1A CACNA1A 1 1 LOVD
00208243 - PubMed: Alonso 2003 - F - Portugal - - - - no treatment known ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 40y, no nystagmus, dysarthria, no ataxia CACNA1A CACNA1A 1 1 LOVD
00208245 - PubMed: Alonso 2003 - F - Portugal - - - - no treatment known ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 24y, 1st severe attack signs mild coma; PermCer status 25y, no nystagmus, dysarthria, no ataxia CACNA1A CACNA1A 1 1 LOVD
00208248 - PubMed: Alonso 2003 - M - Portugal - - - - no treatment known ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 35y, 1st severe attack signs mild coma; PermCer status 30y, no nystagmus, dysarthria, no ataxia CACNA1A CACNA1A 1 1 LOVD
00208249 - PubMed: Alonso 2003 - M - Portugal - - - - no treatment known ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 27y, no nystagmus, dysarthria, no ataxia CACNA1A CACNA1A 1 1 LOVD
00208251 - PubMed: Alonso 2003 - F - Portugal - - - - no treatment known ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 33y, no nystagmus, dysarthria, no ataxia CACNA1A CACNA1A 1 1 LOVD
00208252 - PubMed: Alonso 2003 - F - Portugal - - - - no treatment known ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 34y, no nystagmus, dysarthria, no ataxia, Brain MRI atrophy of the cerebellum CACNA1A CACNA1A 1 1 LOVD
00208253 - PubMed: Alonso 2003 - M - Portugal - - - - no treatment known ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 50y, no nystagmus, dysarthria, no ataxia CACNA1A CACNA1A 1 1 LOVD
00208254 - PubMed: Alonso 2003 - F - Portugal - - - - no treatment known ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 50y, no nystagmus, dysarthria, no ataxia CACNA1A CACNA1A 1 1 LOVD
00208295 - PubMed: Ducros 1999, PubMed: Joutel 1993 In this family (N.1) 20 patients carry the p.Thr666Met. F - France - - - - no treatment known ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence CACNA1A CACNA1A 1 1 LOVD
00208349 - PubMed: Thomsen 2007 Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67% F - Denmark - - - - - ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status CACNA1A CACNA1A 1 1 LOVD
00208350 - PubMed: Thomsen 2007 Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67% F - Denmark - - - - - ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status CACNA1A CACNA1A 1 1 LOVD
00208351 - PubMed: Thomsen 2007 Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67% F - Denmark - - - - - ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status CACNA1A CACNA1A 1 1 LOVD
00208422 - PubMed: Cricchi 2007 This is the first description of a change residing in the cytoplasmic I-II loop. F - Italy - - - - Acetazolamide,1 year trialgave no significant results ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 30y, nystagmus, dysarthria, ataxia CACNA1A CACNA1A 1 1 LOVD
00208428 - PubMed: Cricchi 2007 Affected by recurrent migraine-like headache episodes. F - Italy - - - - responded to acetazolamide treatment ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia CACNA1A CACNA1A 1 1 LOVD
00208456 - PubMed: Yabe 2008 The patient experienced episodes of staggering gait and slurred speech about once annually since about 63 years of age. Neurological examination disclosed mild gaze-evoked nystagmus,severe DPN (Downbeat Positioning Nystagmus), bilateral mild cerebellar ataxia in the heel-knee tapping test, and unstable tandem gait. Brain MRI revealed atrophy in the cerebellar vermis. She complained of vertigo associated with DPN. F - Japan - - - - - ataxia 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, no dysarthria, ataxia CACNA1A CACNA1A 1 1 LOVD
00222749 - PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - - - - - - - ataxia - MRE11A MRE11A 2 1 Alice Fiévet
00222750 - PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - - - - - - - ataxia - MRE11A MRE11A 2 1 Alice Fiévet
00222751 - PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - - - - - - - ataxia - MRE11A MRE11A 2 1 Alice Fiévet
00228888 Pat8 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - F no Netherlands - - - - - ataxia neuropathy PMM2 PMM2 2 1 Erik-Jan Kamsteeg
00231013 AT01 PubMed: Fiévet 2019, Journal: Fiévet 2019 - - - France - - - - - AT, ataxia <8y ataxia (HP:0001251); <15y oculomotor apraxia (HP:0000657); <15y ocular telangiectasia; IgA deficiency (HP:0002720) ATM ATM 1 1 Alice Fiévet
00249663 Fam1-1 PubMed: Cortese 2019 2-generation family, 3 affected (3M), unaffected heterozygous carrier parents M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 3 Johan den Dunnen
00249664 Fam1-2 PubMed: Cortese 2019 - M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential RFC1 RFC1 2 1 Johan den Dunnen
00249665 Fam1-3 PubMed: Cortese 2019 - M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249666 Fam2-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735) RFC1 RFC1 2 2 Johan den Dunnen
00249667 Fam2-2 PubMed: Cortese 2019 - F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency and retention); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249668 Fam3-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 2 Johan den Dunnen
00249669 Fam3-2 PubMed: Cortese 2019 - F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249670 Fam4-2 PubMed: Cortese 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (fecal incontinence); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs RFC1 RFC1 2 2 Johan den Dunnen
00249671 Fam5a-1 PubMed: Cortese 2019 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 3 Johan den Dunnen
00249672 Fam5a-2 PubMed: Cortese 2019 - F - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); no cerebellar atrophy (-HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249673 Fam5b-2 PubMed: Cortese 2019 - M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249674 Fam6a-1 PubMed: Cortese 2019 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 3 Johan den Dunnen
00249675 Fam6a-2 PubMed: Cortese 2019 - F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249676 Fam6b-1 PubMed: Cortese 2019 - M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249677 Fam7-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 2 Johan den Dunnen
00249678 Fam7-2 PubMed: Cortese 2019 - M yes - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
00249679 Fam8-2 PubMed: Cortese 2019 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 2 Johan den Dunnen
00249680 Fam8-3 PubMed: Cortese 2019 - F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (abnormal pupil reactivity); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249681 Fam9-1 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential; RFC1 RFC1 2 2 Johan den Dunnen
00249682 Fam9-2 PubMed: Cortese 2019 - F - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249683 Fam10-2 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); reduced; reduced sensory action potentials lower limbs; normal compound motor action potential RFC1 RFC1 2 2 Johan den Dunnen
00249684 Fam10-1 PubMed: Cortese 2019 - M - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential RFC1 RFC1 1 1 Johan den Dunnen
00249685 Fam11-2 PubMed: Cortese 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 2 Johan den Dunnen
00249686 s1 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (erectile dysfunction); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249687 s2 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation, urinary incontinence, impaired regulation of blood pressure); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249688 s3 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs RFC1 RFC1 2 1 Johan den Dunnen
00249689 s4 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary retention); cough (HP:0012735); absent; absent sensory action potentials lower limbs; compound motor action potential patchy reduction of conduction velocities; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249690 s5 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249691 s6 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation); no cough (-HP:0012735); reduced; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249692 s7 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249693 s8 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249694 s9 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249695 s10 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
00249696 s11 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); no cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735) RFC1 RFC1 2 1 Johan den Dunnen
00249697 s12 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249698 s13 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary dysfunction); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249699 s14 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (urinary urgency, gastro-intestinal dysmotility); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249700 s15 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; no cerebellar atrophy (-HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249701 s16 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 2 1 Johan den Dunnen
00249702 S17 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential RFC1 RFC1 1 1 Johan den Dunnen
00249703 S18 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
00249704 S19 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; reduced sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
00249705 s20 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential RFC1 RFC1 1 1 Johan den Dunnen
00249706 s21 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; vestibular areflexia (HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
00249707 s22 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential RFC1 RFC1 1 1 Johan den Dunnen
00249708 s23 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
00249709 s24 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
00249710 s25 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
00249711 s26 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); cough (HP:0012735); reduced; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
00249712 s27 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
00249713 s28 PubMed: Cortese 2019 sporadic case F - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); no autonomic dysfunction (-HP:0012332); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; reduced compound motor action potential lower limbs RFC1 RFC1 1 1 Johan den Dunnen
00249714 s29 PubMed: Cortese 2019 sporadic case M - - - - - - - ataxia peripheral neuropathy (HP:0009830); cerebellar dysfunction; no vestibular areflexia (-HP:0008568); autonomic dysfunction (HP:0012332) (constipation, xeropthalmia); no cough (-HP:0012735); absent; absent sensory action potentials lower limbs; normal compound motor action potential; cerebellar atrophy (HP:0001272) RFC1 RFC1 1 1 Johan den Dunnen
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