Disease #04201 (SCAR (ataxia, spinocerebellar, autosomal recessive))

Official abbreviation SCAR
Name ataxia, spinocerebellar, autosomal recessive
OMIM ID -
Inheritance Autosomal recessive
Individuals reported having this disease 57
Phenotype entries for this disease 57
Associated with 2 genes TDP2, VWA3B
Associated tissues -
Disease features -
Remarks -
Date created 2015-02-20 09:53:55 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

57 entries on 1 page. Showing entries 1 - 57.
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00073146 - ATX23 - F - France - - - - - SCAR - ATP7B ATP7B 2 1 Claire Guissart
00073149 - ATX46 - M - France - - - - - SCAR - HEXA, NDUFA1 HEXA, NDUFA1 2 1 Claire Guissart
00073156 - ATX372 - F - France - - - - - SCAR - ACO2 ACO2 1 1 Claire Guissart
00073159 - ATX478 - F - France - - - - - SCAR - GBE1, WDR81 GBE1, WDR81 3 1 Claire Guissart
00073160 - ATX515 - F - France - - - - - SCAR - OPA3 OPA3 1 1 Claire Guissart
00073161 - ATX517 - F - France - - - - - SCAR - CACNA1A CACNA1A 1 1 Claire Guissart
00073162 - ATX529 - M - France - - - - - SCAR - SPG7 SPG7 1 1 Claire Guissart
00073163 - ATX599 - F - France - - - - - SCAR - PDYN PDYN 1 1 Claire Guissart
00179437 26872069-Fam PubMed: Duan 2016 2-generation family, affected sister brother, unaffected heterozygous carrier parents F;M no China - - - - - SCAR see paper; ..., gait instability, speech difficulties, gait and limb ataxia, dysarthria, horizontal nystagmus, cataract; EMG normal UBA5 UBA5 2 1 Johan den Dunnen
00206960 162-0411-AR PubMed: Kohan 2013 - - - Argentina - - - - - SCAR histology curvilinear TPP1 TPP1 2 1 Johan den Dunnen
00206987 - PubMed: Dy 2015 - - - United States - - - - - SCAR gait, balance and neurocognitive abnormalities; common mutation described as p.(Phe169*) by Dy TPP1 TPP1 2 1 Sara Mole
00206988 43 PubMed: Kara 2016 - - - Wales - - - - - SCAR normal muscle and skin biopsy TPP1 TPP1 2 1 Sara Mole
00240090 FamIPatI1/I2 PubMed: Indelicato 2018 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Austria - - - - - SCAR see paper; ..., pure cerebellar ataxia, normal neurophysiological findings, no signs of cognitive impairment or autonomic dysfunction SYNE1 SYNE1 1 2 Johan den Dunnen
00240091 FamIIPatII1 PubMed: Indelicato 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Austria - - - - - SCAR see paper; ..., pure cerebellar ataxia, normal neurophysiological findings, no signs of cognitive impairment or autonomic dysfunction SYNE1 SYNE1 1 1 Johan den Dunnen
00240092 FamIIIPatIII1/2 PubMed: Indelicato 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Austria - - - - - SCAR see paper; ..., pure cerebellar ataxia, normal neurophysiological findings, no signs of cognitive impairment or autonomic dysfunction SYNE1 SYNE1 1 2 Johan den Dunnen
00240104 Fam1Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - SCAR SARA score: 13; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes SYNE1 SYNE1 1 1 Johan den Dunnen
00240105 Fam3Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - SCAR SARA score: 12; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy SYNE1 SYNE1 1 1 Johan den Dunnen
00240106 Fam7Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - SCAR SARA score: 5; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes; normal MEPS SYNE1 SYNE1 2 1 Johan den Dunnen
00240107 Fam16Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - SCAR SARA score: 18; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes SYNE1 SYNE1 1 1 Johan den Dunnen
00240108 Fam18Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - SCAR SARA score: 9; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes SYNE1 SYNE1 2 1 Johan den Dunnen
00240109 Fam4Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - SCAR SARA score: 18; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; no dysfunction lower motor neuron; Urge incontinence; MRI cerebellar atrophy; no peripheral neuropathy; MEOS abnormal lower limb SYNE1 SYNE1 2 1 Johan den Dunnen
00240110 Fam5Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - SCAR SARA score: 25; cerebellar ataxia; no dysfunction upper motor neuron; dysfunction lower motor neuron; Slow saccades; MRI cerebellar atrophy SYNE1 SYNE1 2 1 Johan den Dunnen
00240111 Fam9Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - SCAR SARA score: 15.5; cerebellar ataxia; dysfunction upper motor neuron, spastic gait; no dysfunction lower motor neuron; mild macroglossia; esotropia; MRI cerebellar atrophy SYNE1 SYNE1 2 1 Johan den Dunnen
00240112 Fam10Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - SCAR SARA score: 22; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower and upper limb; no dysfunction lower motor neuron; Urge incontinence; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes; MEOS abnormal upper and lower limb SYNE1 SYNE1 1 1 Johan den Dunnen
00240113 Fam11Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - SCAR SARA score: 16.5; cerebellar ataxia; dysfunction upper motor neuron; dysfunction lower motor neuron; Strabism divergens, fasciculation face, fibrillation tongue, reduced vibration sense, depression, CK elevation; MRI cerebellar atrophy; no peripheral neuropathy; EMG chronic neurogenic; MEOS abnormal upper and lower limb SYNE1 SYNE1 1 1 Johan den Dunnen
00240114 Fam12Pat1 PubMed: Synofzik 2016 2-generation family, affected siter/brother, unaffected heterozygous carrier parents F - Belgium - - - - - SCAR SARA score: 33; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower and upper limb; dysfunction lower motor neuron; Respiratory distress, mental retardation, sacral cyst, malrotation colon, pseudarthrosis clavicula, 2 kidneys right sided, kyphosis, scoliosis, CK elevation, pes cavus, strabism, cataract, myoclonus; MRI cerebellar atrophy; no peripheral neuropathy; EMG acute neurogenic; MEOS abnormal lower limb SYNE1 SYNE1 2 2 Johan den Dunnen
00240115 Fam12Pat2 PubMed: Synofzik 2016 bother M - Belgium - - - - - SCAR SARA score: 33; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; dysfunction lower motor neuron; respiratory distress (BIPAP all day), mental retardation (IQ=60), hypertelorism, CK elevation, pes cavus, hyperlaxity, Achilles tendon contractures; MRI cerebellar atrophy; no peripheral neuropathy; EMG acute and chronic neurogenic SYNE1 SYNE1 2 1 Johan den Dunnen
00240116 Fam13Pat1 PubMed: Synofzik 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Morocco - - - - - SCAR SARA score: 14; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy SYNE1 SYNE1 1 2 Johan den Dunnen
00240117 Fam13Pat2 PubMed: Synofzik 2016 sister F - Morocco - - - - - SCAR SARA score: 14; cerebellar ataxia; dysfunction upper motor neuron, spastic gait; no dysfunction lower motor neuron; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes SYNE1 SYNE1 1 1 Johan den Dunnen
00240118 Fam14Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - SCAR SARA score: 8; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; dysfunction lower motor neuron; Pes cavus; MRI cerebellar atrophy; no peripheral neuropathy; MEOS abnormal upper and lower limb SYNE1 SYNE1 2 1 Johan den Dunnen
00240119 Fam19Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - SCAR SARA score: 28; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; no dysfunction lower motor neuron; Slow saccade initiation, horizontal ophtalmoparesis, facial myokymia; MRI cerebellar atrophy SYNE1 SYNE1 1 1 Johan den Dunnen
00240120 Fam20Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - SCAR SARA score: 24; cerebellar ataxia; no dysfunction upper motor neuron; dysfunction lower motor neuron (proximal); Reduced vibration sense, urge incontinence, bulging eyes, upper limb dystonia; MRI cerebellar atrophy SYNE1 SYNE1 2 1 Johan den Dunnen
00240121 Fam21Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - SCAR SARA score: 20; cerebellar ataxia; dysfunction upper motor neuron; no dysfunction lower motor neuron; Urge incontinence; MRI cerebellar atrophy SYNE1 SYNE1 2 1 Johan den Dunnen
00240122 Fam22Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - SCAR SARA score: 18; cerebellar ataxia; dysfunction upper motor neuron; no dysfunction lower motor neuron; Scoliosis, dysphagia; MRI cerebellar atrophy; peripheral neuropathy, mild sensory axonal, lower limb; EMG no changes; normal MEPS SYNE1 SYNE1 1 1 Johan den Dunnen
00240123 Fam23Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - SCAR SARA score: 22; cerebellar ataxia; dysfunction upper motor neuron, spastic gait; dysfunction lower motor neuron; cognitive deficit (IQ=49), slow saccades, CK elevation, restrictive ventilatory defect, pes cavus; MRI cerebellar atrophy; peripheral neuropathy, motor axonal; EMG chronic neurogenic; MEOS abnormal upper and lower limb SYNE1 SYNE1 2 1 Johan den Dunnen
00240124 Fam2Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - SCAR SARA score: 14; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Slow vertical saccades; MRI cerebellar atrophy; no peripheral neuropathy SYNE1 SYNE1 2 1 Johan den Dunnen
00240125 Fam6Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - SCAR SARA score: 13; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Scoliosis; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes SYNE1 SYNE1 2 1 Johan den Dunnen
00240126 Fam8Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - SCAR SARA score: 22; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Scoliosis, kyphosis; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes SYNE1 SYNE1 2 1 Johan den Dunnen
00240127 Fam15Pat1 PubMed: Synofzik 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - France - - - - - SCAR SARA score: 13; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Square wave jerks, horizontal ophtalmoparesis, mild microretrognathism, unilateral ptosis SYNE1 SYNE1 1 2 Johan den Dunnen
00240128 Fam15Pat2 PubMed: Synofzik 2016 sister F - France - - - - - SCAR SARA score: 11; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Scoliosis, seizures at age 2 year, square wave jerks SYNE1 SYNE1 1 1 Johan den Dunnen
00240129 Fam17Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Algeria - - - - - SCAR SARA score: 21; cerebellar ataxia; no dysfunction upper motor neuron; no dysfunction lower motor neuron; Pes cavus; MRI cerebellar atrophy; no peripheral neuropathy; EMG no changes SYNE1 SYNE1 1 1 Johan den Dunnen
00240133 FamilyA PubMed: Noreau 2013 2-generation family, affected brothers/sister, unaffected heterozygous carrier parents F;M - Canada French Canadian - - - - SCAR see paper; ... SYNE1 SYNE1 2 3 Johan den Dunnen
00240134 FamilyB PubMed: Noreau 2013 2-generation family, affected sisters, unaffected heterozygous carrier parents F - Canada French Canadian - - - - SCAR see paper; ... SYNE1 SYNE1 2 2 Johan den Dunnen
00240135 PatA PubMed: Noreau 2013 - - - Brazil - - - - - SCAR see paper; ... SYNE1 SYNE1 1 1 Johan den Dunnen
00240136 PatB PubMed: Noreau 2013 - - - France - - - - - SCAR see paper; ... SYNE1 SYNE1 1 1 Johan den Dunnen
00240137 Pat1 PubMed: Izumi 2013 - F yes Japan - 44y - - - SCAR see paper; … SYNE1 SYNE1 2 1 Johan den Dunnen
00240138 Pat2 PubMed: Izumi 2013 - - yes Japan - - - - - SCAR see paper; … SYNE1 SYNE1 1 1 Johan den Dunnen
00240139 Pat3 PubMed: Izumi 2013 - - yes Japan - - - - - SCAR see paper; … SYNE1 SYNE1 1 1 Johan den Dunnen
00240141 ATX6 PubMed: Fogel 2014 - M - United States - - - - - SCAR see paper; … SYNE1 SYNE1 2 1 Johan den Dunnen
00240142 ATX18 PubMed: Fogel 2014 - F - United States - - - - - SCAR see paper; … SYNE1 SYNE1 2 1 Johan den Dunnen
00240143 ATX35 PubMed: Fogel 2014 - F - United States - - - - - SCAR see paper; … SYNE1 SYNE1 1 1 Johan den Dunnen
00240144 Pat PubMed: Hamza 2015 - - - Algeria - - - - - SCAR see paper; … SYNE1 SYNE1 1 1 Johan den Dunnen
00410747 patient PubMed: Zagnoli-Vieira 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - SCAR see paper; ..., developmental delay, microcephaly, failure to thrive, difficulty keeping balance, ataxic gait, seizures/epilepsy, hypotonia, neutropenia, cardiac arrhythmia, fatigability - TDP2 1 1 Johan den Dunnen
00410748 FamPatIV9 PubMed: Gomez-Herreros 2014 5-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives M yes Ireland - - - - - SCAR see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (1-2/day), ataxia, wheelchair-bound, hypotonia, dysmorphic, brachycephaly - TDP2, ZSCAN9 3 3 Johan den Dunnen
00410749 FamPatIV14 PubMed: Gomez-Herreros 2014 brother M yes Ireland - - - - - SCAR see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (3-4/day), ataxia, wheelchair-bound, dysmorphic - TDP2, ZSCAN9 3 1 Johan den Dunnen
00410750 FamPatIV16 PubMed: Gomez-Herreros 2014 brother M yes Ireland - - - - - SCAR see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (2/day), ataxia, not wheelchair-bound, dysmorphic - TDP2, ZSCAN9 3 1 Johan den Dunnen
00410751 family PubMed: Gomez-Herreros 2014 - - - Egypt - - - - - SCAR see paper; ..., intellectual disability, ataxia - TDP2 1 1 Johan den Dunnen
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