Disorder | Distinguishing features | Gene or locus | Protein |
SCAR1 | Now classified as SCAN2 (AOA2) | ||
SCAR2 | Ataxia, developmental delay | PMPCA | Alpha-mitochondrial processing peptidase, beta subunit |
SCAR3 | Ataxia, blindness, deafness | 6p21-23 | |
SCAR4 | Ataxia, saccadic intrusions, spasticity, hyperreflexia | VPS13D | Vacuolar protein sorting 13 homolog D |
Formerly SCAR5 | Galloway-Mowat syndrome 1 (nonprogressive congenital cerebellar ataxia, infantile-onset microcephaly, central nervous system abnormalities) | WDR73 | WD repeat domain 73 |
SCAR6 | Nonprogressive infantile cerebellar ataxia, delayed walking and speech, hypotonia, clumsy movements | 20q11-13 | |
SCAR7 | Ataxia, eye movement difficulties | TPP1 | Tripeptidyl peptidase 1 |
SCAR8 | Progressive ataxia, neurodegeneration, spasticity | SYNE1 | Nesprin-1 |
SCAR9/COQ10D4 | Childhood-onset cerebellar ataxia, exercise intolerance, coenzyme Q10 deficiency | ADCK1 | AarF domain containing kinase 1 |
SCAR10 | Ataxia, dysarthria, nystagmus, marked cerebellar atrophy, coenzyme Q10 deficiency | ANO10 | Anoctamin 10 |
SCAR11 | Ataxia, developmental delay, dysarthria | SYT14 | Synaptotagmin 14 |
SCAR12 | Ataxia, generalized seizures in infancy, developmental delay | WWOX | WW domain containing oxidoreductase |
SCAR13 | Ataxia, delayed intellectual development, poor/absent speech, hyperreflexia | GRM1 | Glutamate metabotropic receptor 1 |
SCAR14 | Early-onset gait ataxia, developmental delay, eye movement abnormalities | SPTBN2 | Spectrin beta, non-erythrocytic 2 |
SCAR15 | Early-onset ataxia, cognitive impairment, dysarthria | RUBCN | RUN and cysteine rich domain containing Beclin 1 interacting protein |
SCAR16 | Truncal and limb ataxia | STUB1 | STIP1 homology and U-box containing protein 1 |
SCAR17 | Childhood-onset gait ataxia, intellectual disability | CWF19L1 | CWF19-like 1, cell cycle control |
SCAR18 | Developmental delay, severe gait impairment, oculomotor abnormalities | GRID2 | Glutamate ionotropic receptor delta type subunit 2 |
SCAR19 | Lichtenstein-Knorr syndrome (severe progressive sensorineural hearing loss and cerebellar ataxia) | SLC9A1 | Solute carrier family 9 member A1 |
SCAR20 | Ataxia, severe developmental delay, poor/absent speech, coarse facies, cerebellar atrophy | SNX14 | Sorting nexin 14 |
SCAR21 | Ataxia, liver dysfunction or failure | SCYL1 | SCY1-like pseudokinase 1 |
SCAR22 | Adult-onset cerebellar ataxia and intellectual disability | VWA3B | von Willebrand factor A domain containing 3B |
SCAR23 | Epilepsy, intellectual disability, gait ataxia | TDP2 | Tyrosyl-DNA phosphodiesterase 2 |
SCAR24 | Gait instability, speech difficulties, delayed growth in childhood | UBA5 | Ubiquitin-like modifier activating enzyme 5 |
SCAR25 | Dysmetria, truncal ataxia, developmental delay, cerebellar hypoplasia | ATG5 | Autophagy related 5 |
SCAR26* | Dysmetria, dysdiadochokinesis, cerebellar atrophy | XRCC1 | X-ray repair cross complementing 1 |
SCAR27 | Gait difficulties, dysarthria, lower-limb spasticity, cerebellar atrophy | GDAP2 | Ganglioside-induced differentiation associated protein 2 |
SCAR28 | Early childhood motor delay, uncoordinated fine movements, dysarthria | THG1L | tRNA-histidine guanylyltransferase 1-like |
SCAR29 | Bayahaka neurodevelopmental disorder (hypotonia, visual impairment, cerebellar ataxia) | VPS41 | VPS41, HOPS complex subunit |
SCAR30 | Impaired intellectual development, motor dysfunction, cerebellar ataxia | PITRM1 | Pitrilysin metallopeptidase 1 |
SCAR31 | Ataxia, hypotonia, tremor, dysarthria | ATG7 | Autophagy related 7 |
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