ErkrankungAtaxie, autosomal rezessiv [Erwachsenenalter]; Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für autosomal rezessiv vererbte Ataxie des Erwachsenenalters mit 14 Leitlinien-kuratierten und insgesamt 121 kuratierten Genen
312,3 kb (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
- NGS + [Sanger]
- X; FXN Gen: zunächst nur (GAA)n repeat Expansion
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
APTX | 1029 | AR | |
ATM | 9171 | AD und/oder AR und/oder SMu und/oder Sus | |
CYP27A1 | 1596 | AR | |
FXN | 633 | AR und/oder Ass | |
MTTP | 2685 | AD und/oder AR | |
NPC1 | 3837 | AR | |
PEX7 | 972 | AR | |
PHYH | 1017 | AR | |
POLG | 3720 | AD und/oder AR | |
SACS | 13740 | AR | |
SETX | 8034 | AD und/oder AR | |
SPG7 | 2388 | AD und/oder AR | |
SYNE1 | 26250 | AD und/oder AR | |
TTPA | 837 | AR | |
AAAS | 1641 | AR | |
ABHD12 | 1197 | AR | |
ADCY5 | 3786 | AD und/oder AR | |
ADGRG1 | 2064 | AR | |
AFG3L2 | 2394 | AD und/oder AR | |
AMPD2 | 2478 | AR | |
ANO10 | 1983 | AR | |
ARMC9 | 3275 | AR | |
ARSA | 1530 | AR | |
ATCAY | 1116 | AR | |
ATP7B | 4398 | AR | |
ATP8A2 | 3567 | AR | |
AUH | 1020 | AR | |
B3GALNT2 | 1503 | AR | |
B4GAT1 | 1248 | AR | |
BRF1 | 1755 | AR | |
CA8 | 873 | AR | |
CAPN1 | 2145 | AR | |
CHMP1A | 591 | AR | |
CLCN2 | 2697 | AD und/oder AR | |
CLN6 | 936 | AR | |
CLP1 | 1086 | AR | |
COA7 | 699 | AR | |
COASY | 1695 | AR | |
COG5 | 2472 | AR | |
COQ8A | 1944 | AR | |
COX20 | 357 | AR und/oder Mi | |
CP | 3198 | AR | |
CSTB | 297 | AR | |
CWF19L1 | 1617 | AR | |
CYP2U1 | 1635 | AR | |
DARS2 | 1938 | AR | |
DDHD2 | 2136 | AR | |
DNAJC19 | 351 | AR | |
EIF2B1 | 918 | AR | |
EIF2B2 | 1056 | AR | |
EIF2B3 | 1359 | AR | |
EIF2B4 | 1569 | AR | |
EIF2B5 | 2166 | AR | |
ELOVL4 | 945 | AD und/oder AR | |
EPM2A | 996 | AR | |
ERCC4 | 2751 | AR | |
EXOSC3 | 828 | AR | |
EXOSC8 | 831 | AR | |
EXOSC9 | 1426 | AR | |
FLVCR1 | 1668 | AR | |
FOLR1 | 774 | AR | |
GBA2 | 2784 | AR | |
GJC2 | 1320 | AD und/oder AR | |
GLRA1 | 1350 | AD und/oder AR | |
GLRB | 1494 | AR | |
GOSR2 | 639 | AR | |
GPAA1 | 1878 | AR | |
GRID2 | 3024 | AR | |
GRM1 | 3585 | AD und/oder AR | |
HEXA | 1590 | AR | |
HEXB | 1671 | AR | |
ITPR1 | 8088 | AD und/oder AR | |
KCNJ10 | 1140 | AR und/oder Dig | |
KIF1C | 3312 | AR | |
MARS2 | 1782 | AR | |
MFN2 | 2274 | AD und/oder AR und/oder Dig und/oder Sus | |
MMACHC | 849 | AR | |
MRE11 | 2127 | AR | |
NHLRC1 | 1188 | AR | |
NKX6-2 | 837 | AR | |
NPC2 | 456 | AR | |
OPA1 | 2883 | AD und/oder AR und/oder Mult | |
OPA3 | 540 | AD und/oder AR | |
PEX16 | 1011 | AR | |
PEX6 | 2943 | AD und/oder AR | |
PLA2G6 | 2421 | AR | |
PMPCA | 1875 | AR | |
PMPCB | 1551 | AR | |
PNKP | 1566 | AR | |
PNPLA6 | 3984 | AR | |
POLR3A | 4173 | AR | |
PRICKLE1 | 2496 | AR | |
PTRH2 | 540 | AR | |
RARS2 | 1737 | AR | |
RNF170 | 777 | AD und/oder AR | |
RNF216 | 2772 | AR | |
ROBO3 | 4161 | AR | |
SCYL1 | 2642 | AR | |
SEPSECS | 1506 | AR | |
SIL1 | 1386 | AR | |
SLC25A46 | 1257 | AR | |
SLC2A1 | 1479 | AD und/oder AR | |
SLC39A8 | 1645 | AR | |
SLC52A2 | 1338 | AR | |
SLC9A1 | 2448 | AR | |
SNX14 | 2841 | AR | |
SPR | 786 | AD und/oder AR | |
SPTBN2 | 7173 | AD und/oder AR | |
SQSTM1 | 1323 | AD und/oder AR | |
SRD5A3 | 957 | AR | |
STUB1 | 912 | AD und/oder AR | |
TBC1D23 | 2100 | AR | |
TERT | 3399 | AD und/oder AR und/oder SMu und/oder Sus | |
TOE1 | 1488 | AR | |
TPP1 | 1692 | AR | |
TSEN15 | 390 | AR | |
TSEN2 | 1398 | AR | |
TSEN54 | 1581 | AR | |
TWNK | 2055 | AD und/oder AR | |
UBA5 | 1255 | AR | |
UCHL1 | 672 | AR und/oder Sus | |
VLDLR | 2622 | AR | |
VPS13D | 13236 | AR | |
VPS53 | 2499 | AR | |
WDR73 | 1137 | AR | |
WDR81 | 5826 | AR | |
WFS1 | 2673 | AD und/oder AR | |
WWOX | 1245 | AR | |
ZFYVE26 | 7620 | AR |
Infos zur Erkrankung
Kleinhirnataxie mit Beginn im Erwachsenenalter, langsam fortschreitende spinocerebelläre Ataxie, Gang- + Extremitätenataxie, Dysarthrie, Augenbewegungsstörungen (horizontal, vertikal, und/oder downbeat Nystagmus, hypermetrische Sakkaden), verstärkte Sehnenreflexe + progressiver kognitiver Abbau. Verlust der proximalen Beinmuskulatur, Faszikulationen, pes cavus, Einatmungsstridor, Epilepsie, Retina-Degeneration, Katarakt; Bildgebung: zerebelläre Atrophie; Elektromyographie: Beteiligung unterer Motoneurone
- 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)
- AD und/oder AR
- AD und/oder AR und/oder Dig und/oder Sus
- AD und/oder AR und/oder Mult
- AD und/oder AR und/oder SMu und/oder Sus
- AR
- AR und/oder Ass
- AR und/oder Dig
- AR und/oder Mi
- AR und/oder Sus
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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