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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessAtaxia, autosomal recessive [adult]; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for autosomal recessively transmitted ataxia of adults comprising 14 guideline-curated and altogether 135 curated genes

ID
AP0107
Number of genes
129 Accredited laboratory test
Examined sequence length
76,0 kb (Core-/Core-canditate-Genes)
307,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
  1. NGS + [Sanger]
  2. X; FXN gene: first only (GAA)n repeat expansion, then NGS

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
APTX1029NM_175073.3AR
ATM9171NM_000051.4AR
CYP27A11596NM_000784.4AR
FXN633NM_000144.5AR
MTTP2685NM_000253.4AR
NPC13837NM_000271.5AR
PEX7972NM_000288.4AR
PHYH1017NM_006214.4AR
POLG3720NM_002693.3AR, AD
SACS13740NM_014363.6AR
SETX8034NM_015046.7AR
SPG72388NM_003119.4AR, AD
SYNE126250NM_033071.4AR
TTPA837NM_000370.3AR
AAAS1641NM_015665.6AR
AARS12927NM_001605.3AD
ABHD121197NM_001042472.3AR
ADGRG12064NM_005682.7AR
AFG3L22394NM_006796.3AR, AD
AMPD22478NM_001368809.2AR
ANO101983NM_018075.5AR
ARMC93275NM_025139.6AR
ARSA1530NM_000487.6AR
ATCAY1116NM_033064.5AR
ATP7B4398NM_000053.4AR
ATP8A23567NM_016529.6AR
AUH1020NM_001698.3AR
B3GALNT21503NM_152490.5AR
BRF11755NM_001519.4AR
CA8873NM_004056.6AR
CAPN12145NM_001198868.2AR
CHMP1A591NM_002768.5AR
CLCN22697NM_004366.6AR
CLN6936NM_017882.3AR
CLP11086NM_001142597.2AR
COA7699NM_023077.3AR
COASY1695NM_025233.7AR
COG52472NM_001161520.2AR
COQ8A1944NM_020247.5AR
COX20357NM_198076.6AR
CP3198NM_000096.4AR
CWF19L11617NM_018294.6AR
CYP2U11635NM_183075.3AR
DARS21938NM_018122.5AR
DDHD22136NM_015214.3AR
DNAJC19351NM_145261.4AR
EIF2B1918NM_001414.4AR
EIF2B21056NM_014239.4AR
EIF2B31359NM_020365.5AR
EIF2B41569NM_015636.4AR
EIF2B52166NM_003907.3AR
EPM2A996NM_005670.4AR
ERCC42751NM_005236.3AR
EXOSC3828NM_016042.4AR
EXOSC8831NM_181503.3AR
EXOSC91426NM_001034194.2AR
FLVCR11668NM_014053.4AR
FOLR1774NM_016725.3AR
GALC2058NM_000153.4AR
GBA22784NM_020944.3AR
GDAP21757NM_001135589.3AR
GJC21320NM_020435.4AR
GLRA11350NM_000171.4AR, AD
GLRB1494NM_000824.5AR
GOSR2639NM_004287.5AR
GPAA11878NM_003801.4AR
GRID23024NM_001510.4AR
GRM13585NM_001278064.2AR
HEXA1590NM_000520.6AR
HEXB1671NM_000521.4AR
KCNJ101140NM_002241.5AR
KIF1C3312NM_006612.6AR
MARS21782NM_138395.4AR
MMACHC849NM_015506.3AR
MRE112127NM_005591.4AR
MSTO11953NM_001256532.1AR, AD
MTPAP1749NM_018109.4AR
NHLRC11188NM_198586.3AR
NKX6-2837NM_177400.3AR
NPC2456NM_006432.5AR
OPA12883NM_015560.3AD, AR
OPA3540NM_025136.4AR
PEX161011NM_004813.4AR
PEX2918NM_000318.3AR
PEX62943NM_000287.4AR
PLA2G62421NM_003560.4AR
PMPCA1875NM_015160.3AR
PMPCB1551NM_004279.3AR
PNKP1566NM_007254.4AR
PNPLA63984NM_006702.5AR
POLR3A4173NM_007055.4AR
PRDX3778NM_006793.5AR
PRICKLE12496NM_153026.3AR
PTRH2540NM_016077.5AR
RARS21737NM_020320.5AR
RNF2162772NM_207111.4AR
ROBO34161NM_022370.4AR
SCYL12642NM_001048218.2AR
SEPSECS1506NM_016955.4AR
SIL11386NM_022464.5AR
SLC25A461257NM_138773.4AR
SLC2A11479
  • No OMIM-Gs linked
NM_006516.4AD, AR
SLC39A81645NM_022154.5AR
SLC52A21338NM_024531.5AR
SLC9A12448NM_003047.5AR
SNX142841NM_153816.6AR
SPR786NM_003124.5AD, AR
SPTBN27173NM_006946.4AR, AD
SQSTM11323NM_003900.5AR
SRD5A3957NM_024592.5AR
STUB1912NM_005861.4AD, AR
TBC1D232100NM_001199198.3AR
TERT3399NM_198253.3AD, AR
TOE11488NM_025077.4AR
TPP11692NM_000391.4AR
TSEN21398NM_025265.4AR
TSEN541581NM_207346.3AR
TWNK2055NM_021830.5AD, AR
UBA51255NM_024818.6AR
UCHL1672NM_004181.5AR
VLDLR2622NM_003383.5AR
VPS13D13236NM_015378.4AR
VPS532499NM_001128159.3AR
VRK11191NM_003384.3AR
WDR731137NM_032856.5AR
WDR815826NM_001163809.2AR
WFS12673NM_006005.3AR
WWOX1245NM_016373.4AR
ZFYVE267620NM_015346.4AR

Informations about the disease

Clinical Comment

Cerebellar ataxia with adulthood-onset, slowly progressive spinocerebellar ataxia, gait + appendicular ataxia, dysarthria, ocular movement anomalies ( horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes + progressive cognitive decline. Additionally proximal leg muscle wasting + fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration, cataracts. Brain imaging reveals marked cerebellar atrophy; electromyography: lower motor neuron involvement

 

Synonyms
  • Allelic: Cataract 41 (WFS1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
  • Allelic: Congenital disorder of glycosylation, type Iq (SRD5A3)
  • Allelic: Deafness, AD 6/14/38 (WFS1)
  • Allelic: Developmental + epileptic encephalopathy 29 (AARS1)
  • Allelic: Enlarged vestibular aqueduct, digenic (KCNJ10)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
  • Allelic: Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
  • Allelic: Hyperaldosteronism, familial, type II (CLCN2)
  • Allelic: Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Allelic: Laurence-Moon syndrome (PNPLA6)
  • Allelic: Lymphatic malformation 3 (GJC2)
  • Allelic: Metabolic syndrome, protection against (MTTP)
  • Allelic: Microcephaly, seizures + developmental delay (PNKP)
  • Allelic: Myopathy, distal, with rimmed vacuoles (SQSTM1)
  • Allelic: Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1
  • Allelic: Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
  • Allelic: Oliver-McFarlane syndrome (PNPLA6)
  • Allelic: Optic atrophy 1 (OPA1)
  • Allelic: Optic atrophy 3 with cataract (OPA3)
  • Allelic: Optic atrophy plus syndrome (OPA1)
  • Allelic: Paget disease of bone 3 (SQSTM1)
  • Allelic: Parkinson disease 5, susceptibility to (UCHL1)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • Allelic: Spinocerebellar ataxia 44 (GRM1)
  • Allelic: Spinocerebellar ataxia 48 (STUB1)
  • Allelic: Spinocerebellar ataxia 5 (SPTBN2)
  • Allelic: Trichothiodystrophy 8, nonphotosensitive (AARS1)
  • Allelic: Wolfram-like syndrome, AD (WFS1)
  • 3-methylglutaconic aciduria, type III (OPA3)
  • 3-methylglutaconic aciduria, type V (DNAJC19)
  • Abetalipoproteinemia (MTTP)
  • Achalasia-addisonianism-alacrimia syndrome (AAAS)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Ataxia + oculomotor apraxia type 2, AOA2 (SETX)
  • Ataxia + vitamin E deficiency (TTPA)
  • Ataxia, cerebellar, Cayman type (ATCAY)
  • Ataxia, early-onset, with oculomotor apraxia [+ hypoalbuminemia] (APTX)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Ataxia-oculomotor apraxia 4 (PNKP)
  • Ataxia-telangiectasia (ATM)
  • Ataxia-telangiectasia-like disorder 1 (MRE11)
  • Behr syndrome (OPA1)
  • Boucher-Neuhauser syndrome (PNPLA6)
  • Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
  • Cerebellar ataxia (CP)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Cerebellar ataxia + mental retardation +/- quadrupedal locomotion 3 (CA8)
  • Cerebellar ataxia, early onset, mild to moderate, progressive [panelapp] (PRDX3)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
  • Cerebellar hypoplasia + mental retardation -/+ quadrupedal locomotion 1 (VLDLR)
  • Cerebellofaciodental syndrome (BRF1)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 4A, Kufs type, AR (CCLN6)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Chorea, hereditary benign (NKX2-1)
  • Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Chylomicron retention disease (SAR1B)
  • Coenzyme Q10 deficiency, primary, 4 (COQ8A)
  • Complex phenotypic spectrum from Emery-Dreifuss muscular dystrophy to ataxia SCA8 (SYNE1)
  • Congenital disorder of glycosylation, type IIi (COG5)
  • Congenital disorder of glycosylation, type IIn (SLC39A8)
  • Developmental + epileptic encephalopathy 28 (WWOX)
  • Developmental + epileptic encephalopathy 44 (UBA5)
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
  • Epilepsy, progressive myoclonic 1A, Unverricht + Lundborg (CSTB)
  • Epilepsy, progressive myoclonic 1B (PRICKLE1)
  • Epilepsy, progressive myoclonic 2A, Lafora (EPM2A)
  • Epilepsy, progressive myoclonic 2B, Lafora (NHLRC1)
  • Epilepsy, progressive myoclonic 6 (GOSR2)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
  • GM2-gangliosidosis, several forms (HEXA)
  • Galloway-Mowat syndrome 1 (WDR73)
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
  • Glycosylphosphatidylinositol biosynthesis defect 15 (GPAA1)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Hyperekplexia 1 (GLRA1)
  • Hyperekplexia 2 Hyperekplexia 2 (GLRB)
  • Infantile-onset multisystem neurologic, endocrine + pancreatic disease (PTRH2)
  • Joubert syndrome 30 (ARMC9)
  • Juvenile amyotrophic lateral sclerosis, ALS4; AD ataxia (SETX)
  • Kahrizi syndrome (SRD5A3)
  • Krabbe disease (GALC)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Leukodystrophy, hypomyelinating, 7, +/- oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation (DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5)
  • Leukoencephalopathy, hereditary diffuse, with spheroids 2 (AARS1)
  • Lichtenstein-Knorr syndrome (SLC9A1)
  • Marinesco-Sjogren syndrome (SIL1)
  • Metachromatic leukodystrophy (ARSA)
  • Methylmalonic aciduria + homocystinuria, cblC type (MMACHC)
  • Mitochondrial DNA depletion syndrome 14, encephalocardiomyopathic type (OPA1)
  • Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
  • Mitochondrial complex IV deficiency, nuclear type 11 (COX20)
  • Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
  • Mitochondrial spinocerebellar ataxia with epilepsy, SCAE (POLG)
  • Multiple mitochondrial dysfunctions syndrome 6 (PMPCB)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 13 (B4GAT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
  • Myopathy, mitochondrial + ataxia (MSTO1)
  • Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 6 (COASY)
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia + seizures (ADPRS)
  • Neurodevelopmental disorder with epilepsy + hypoplasia of the corpus callosum (LNPK)
  • Niemann-Pick disease types C1 + D (NPC1)
  • Niemann-Pick disease, type C2 (NPC2)
  • Ovarioleukodystrophy (EIF2B2, EIF2B4, EIF2B5)
  • Parkinson disease 14, AR (PLA2G6)
  • Peroxisome biogenesis disorder 4A, Zellweger (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 5A, Zellweger (PEX2)
  • Peroxisome biogenesis disorder 5B (OEX2)
  • Peroxisome biogenesis disorder 8A, Zellweger (PEX16)
  • Peroxisome biogenesis disorder 8B (PEX16)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Polymicrogyria, bilateral perisylvian (ADGRG1)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (ABHD12)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 2A (TSEN54)
  • Pontocerebellar hypoplasia type 2B (TSEN2)
  • Pontocerebellar hypoplasia type 2D (SEPSECS)
  • Pontocerebellar hypoplasia type 4 (TSEN54)
  • Pontocerebellar hypoplasia type 5 (TSEN54)
  • Pontocerebellar hypoplasia, type 10 (CLP1)
  • Pontocerebellar hypoplasia, type 11 (TBC1D23)
  • Pontocerebellar hypoplasia, type 12 (COASY)
  • Pontocerebellar hypoplasia, type 1B (EXOSC3)
  • Pontocerebellar hypoplasia, type 1C (EXOSC8)
  • Pontocerebellar hypoplasia, type 1D (EXOSC9)
  • Pontocerebellar hypoplasia, type 1E (SLC25A46)
  • Pontocerebellar hypoplasia, type 2E (VPS53)
  • Pontocerebellar hypoplasia, type 2F (TSEN15)
  • Pontocerebellar hypoplasia, type 6 (RARS2)
  • Pontocerebellar hypoplasia, type 7 (TOE1)
  • Pontocerebellar hypoplasia, type 8 (CHMP1A)
  • Pontocerebellar hypoplasia, type 9 (AMPD2)
  • Refsum disease [disorders of peroxisomal alpha-, beta, omega-oxidation} (PHYH)
  • SESAME syndrome (KCNJ10)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Sensible atactic neuropathy with dysarthria + ophthalmoplegia, SANDO (POLG)
  • Spastic ataxia 2, AR (KIF1C)
  • Spastic ataxia 3, AR (MARS2)
  • Spastic ataxia 4, AR (MTPAP)
  • Spastic ataxia 8, AR, with hypomyelinating leukodystrophy (NKX6-2)
  • Spastic ataxia 9, AR (CHP1)
  • Spastic ataxia, Charlevoix-Saguenay type (SACS)
  • Spastic paraplegia 15, AR (ZFYVE26)
  • Spastic paraplegia 39, AR (PNPLA6)
  • Spastic paraplegia 44, AR (GJC2)
  • Spastic paraplegia 46, AR (GBA2)
  • Spastic paraplegia 54, AR (DDHD2)
  • Spastic paraplegia 56, AR (CYP2U1)
  • Spastic paraplegia 63 (AMPD2)
  • Spastic paraplegia 7 complex forms; range of phenotypes including adult-onset ataxia (SPG7)
  • Spastic paraplegia 76, AR (CAPN1)
  • Spastic paraplegia 79, AR (UCHL1)
  • Spinocerebellar ataxia, AAR 13 (GRM1)
  • Spinocerebellar ataxia, AR 10 (ANO10)
  • Spinocerebellar ataxia, AR 12 (WWOX)
  • Spinocerebellar ataxia, AR 14 (SPTBN2)
  • Spinocerebellar ataxia, AR 16 (STUB1)
  • Spinocerebellar ataxia, AR 17 (CWF19L1)
  • Spinocerebellar ataxia, AR 18 (GRID2)
  • Spinocerebellar ataxia, AR 2 (PMPCA)
  • Spinocerebellar ataxia, AR 20 (SNX14)
  • Spinocerebellar ataxia, AR 21 (SCYL1)
  • Spinocerebellar ataxia, AR 24 (UBA5)
  • Spinocerebellar ataxia, AR 26 (XRCC1)
  • Spinocerebellar ataxia, AR 27 (GDAP2)
  • Spinocerebellar ataxia, AR 29 (VPS41)
  • Spinocerebellar ataxia, AR 4 (VPS13D)
  • Spinocerebellar ataxia, AR 7 (TPP1)
  • Spinocerebellar ataxia, AR 8 (SYNE1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 3 (COA7)
  • Tay-Sachs disease (HEXA)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
  • Wilson disease (ATP7B)
  • Wolfram syndrome 1 (WFS1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined

Laboratory requirement

  • Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.

  • Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.

  • Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.

  • Die Untersuchung wird auch für Selbstzahler angeboten.