©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungAtaxie, autosomal rezessiv [Erwachsenenalter]; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für autosomal rezessiv vererbte Ataxie des Erwachsenenalters mit 14 Leitlinien-kuratierten und insgesamt 121 kuratierten Genen

ID
AP0107
Anzahl Gene
129 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
76,0 kb (Core-/Basis-Gene)
312,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise
  1. NGS + [Sanger]
  2. X; FXN Gen: zunächst nur (GAA)n repeat Expansion

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
APTX1029AR
ATM9171AD und/oder AR und/oder SMu und/oder Sus
CYP27A11596AR
FXN633AR und/oder Ass
MTTP2685AD und/oder AR
NPC13837AR
PEX7972AR
PHYH1017AR
POLG3720AD und/oder AR
SACS13740AR
SETX8034AD und/oder AR
SPG72388AD und/oder AR
SYNE126250AD und/oder AR
TTPA837AR
AAAS1641AR
ABHD121197AR
ADCY53786AD und/oder AR
ADGRG12064AR
AFG3L22394AD und/oder AR
AMPD22478AR
ANO101983AR
ARMC93275AR
ARSA1530AR
ATCAY1116AR
ATP7B4398AR
ATP8A23567AR
AUH1020AR
B3GALNT21503AR
B4GAT11248AR
BRF11755AR
CA8873AR
CAPN12145AR
CHMP1A591AR
CLCN22697AD und/oder AR
CLN6936AR
CLP11086AR
COA7699AR
COASY1695AR
COG52472AR
COQ8A1944AR
COX20357AR und/oder Mi
CP3198AR
CSTB297AR
CWF19L11617AR
CYP2U11635AR
DARS21938AR
DDHD22136AR
DNAJC19351AR
EIF2B1918AR
EIF2B21056AR
EIF2B31359AR
EIF2B41569AR
EIF2B52166AR
ELOVL4945AD und/oder AR
EPM2A996AR
ERCC42751AR
EXOSC3828AR
EXOSC8831AR
EXOSC91426AR
FLVCR11668AR
FOLR1774AR
GBA22784AR
GJC21320AD und/oder AR
GLRA11350AD und/oder AR
GLRB1494AR
GOSR2639AR
GPAA11878AR
GRID23024AR
GRM13585AD und/oder AR
HEXA1590AR
HEXB1671AR
ITPR18088AD und/oder AR
KCNJ101140AR und/oder Dig
KIF1C3312AR
MARS21782AR
MFN22274AD und/oder AR und/oder Dig und/oder Sus
MMACHC849AR
MRE112127AR
NHLRC11188AR
NKX6-2837AR
NPC2456AR
OPA12883AD und/oder AR und/oder Mult
OPA3540AD und/oder AR
PEX161011AR
PEX62943AD und/oder AR
PLA2G62421AR
PMPCA1875AR
PMPCB1551AR
PNKP1566AR
PNPLA63984AR
POLR3A4173AR
PRICKLE12496AR
PTRH2540AR
RARS21737AR
RNF170777AD und/oder AR
RNF2162772AR
ROBO34161AR
SCYL12642AR
SEPSECS1506AR
SIL11386AR
SLC25A461257AR
SLC2A11479AD und/oder AR
SLC39A81645AR
SLC52A21338AR
SLC9A12448AR
SNX142841AR
SPR786AD und/oder AR
SPTBN27173AD und/oder AR
SQSTM11323AD und/oder AR
SRD5A3957AR
STUB1912AD und/oder AR
TBC1D232100AR
TERT3399AD und/oder AR und/oder SMu und/oder Sus
TOE11488AR
TPP11692AR
TSEN15390AR
TSEN21398AR
TSEN541581AR
TWNK2055AD und/oder AR
UBA51255AR
UCHL1672AR und/oder Sus
VLDLR2622AR
VPS13D13236AR
VPS532499AR
WDR731137AR
WDR815826AR
WFS12673AD und/oder AR
WWOX1245AR
ZFYVE267620AR

Infos zur Erkrankung

Klinischer Kommentar

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

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • 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
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G11.-

Bioinformatik und klinische Interpretation

Kein Text hinterlegt