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Klinische FragestellungAtaxie, autosomal dominant [Erwachsenenalter]; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 16 Leitlinien-kuratierten Genen sowie insgesamt 62 Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Formen der autosomal dominant vererbten Ataxie des Erwachsenenalters; Punkt-Mutationen in 3 Leitlinien-kuratierten Genen (CACNA1A, KCNA1, PRKCG) sowie repeat-Expansionen in mehreren SCA-Genen (vor allem den Leitlinien-kuratierten Genen ATXN1, ATXN2, ATXN3, CACNA1A) erfassen die häufigsten Mutationen.

ID
AP0017
Anzahl Gene
41 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
26,0 kb (Core-/Core-canditate-Gene)
110,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise
  1. X

 

40 dominant vererbte SCAs; häufigste Subtypen SCA1 (ATXN1 Gen, CAG-Repeats), SCA2 (ATXN2 Gen, CAG-Repeats), SCA3 (ATXN3 Gen, CAG-Repeats), SCA6 (>Hälfte aller SCAs; CACNA1A1 Gen, CAG-Repeats); ca. 15% Patienten mit sporadischer Ataxie trotz negativer Familienanamnese mit Mutation, meist SCA6. Dann in der Reihenfolge je nach Symptomatik: SCA7 (ATXN7 Gen, CAG-Repeats), SCA17 (TBP Gen, CAG-Repeats), SCA12 (PPP2R2B Gen, CAG-Repeats)...

2. NGS

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ATN13573AD
ATXN12448AD
ATXN23462AD
ATXN31086AD
ATXN72679AD
CACNA1A6786AD
KCNA11488AD
PPP2R2B1350AD
PRKCG2094AD
TBP960AD
AFG3L22394AD
ATP1A23063AD
ATP1A33042AD
ATXN80AD
CACNA1G6945AD
CAMTA15022AD
DNAJC5597AD
DNMT14899AD
ELOVL4945AD
FGF14744AD
GFAP1299AD
ITPR18088AD, AR
KCNC32274AD
KCND31968AD
MFN22274AD
POLG3720AD
PRNP762AD
PRRT21023AD
PUM13602AD
RNF170777AD
SAMD9L4756AD
SCN8A5943AD
SLC1A31629AD
SPTBN27173AR
TMEM240522AR
TTBK23735AD
TUBA1A1356AD
TUBB2B1338AD
TUBB31353AD
TUBB4A1335AD
TWNK2055AD, AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen: Viele sich überschneidende, klinisch schwer zu unterscheidende Zeichen mit meist gemeinsamen Merkmalen wie Gangataxie, Dysarthrie, Sakkaden- Augenbewegungen; spezifischere Merkmale einiger Ataxien wie Augenerkrankungen, extrapyramidale Zeichen und periphere Nerven Symptome, intellektuelle Verschlechterung, Krampfanfälle, Symptome oberer Motoneurone, Tremor

 

Synonyme
  • Alias: Erbliche Ataxie, Erwachsene
  • Alias: Hereditary ataxia, AD, adult onset
  • Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
  • Allelic: Alternating hemiplegia of childhood 2 (ATP1A3)
  • Allelic: Brugada syndrome 9 (KCND3)
  • Allelic: Combined oxidative phosphorylation deficiency 13 (PNPT1)
  • Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1_CAG)
  • Allelic: Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • Allelic: Creutzfeldt-Jakob disease (PRNP)
  • Allelic: Deafness, AR 70, with/-out adult-onset neurodegeneration (PNPT1)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
  • Allelic: Epileptic encephalopathy, early infantile, 13 (SCN1A)
  • Allelic: Epileptic encephalopathy, early infantile, 32 (KCNA2)
  • Allelic: Epileptic encephalopathy, early infantile, 42 (CACNA1A)
  • Allelic: Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
  • Allelic: Epileptic encephalopathy, early infantile, 7 (KCNQ2)
  • Allelic: Febrile seizures, familial, 3A (SCN1A)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • Allelic: GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Allelic: Gerstmann-Straussler disease (PRNP)
  • Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
  • Allelic: Hyperaldosteronism, familial, type II (CLCN2)
  • Allelic: Ichthyosis, spastic quadriplegia + mental retardation (ELOVL4)
  • Allelic: Insomnia, fatal familial (PRNP)
  • Allelic: Kuru, susceptibility to (PRNP)
  • Allelic: Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Allelic: Migraine, familial hemiplegic, 1 (CACNA1A)
  • Allelic: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Allelic: Mitochondrial AR ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Allelic: Mitochondrial DNA depletion syndrome 14 [encephalocardiomyopathic type] (OPA1)
  • Allelic: Monosomy 7 myelodysplasia + leukemia syndrome 1 (SAMD9L)
  • Allelic: Myoclonus, familial, 2 (SCN1A)
  • Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
  • Allelic: Optic atrophy 1 (OPA1)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Parkinson disease, susceptibility to (ATXN8OS)
  • Allelic: Parkinson disease, susceptibility to (TBP_CAG)
  • Allelic: Prion disease with protracted course (PRNP)
  • Allelic: Progressive external ophthalmoplegia with mtDNA deletions, AD 3 (TWNK)
  • Allelic: Progressive external ophthalmoplegia, AD 1/AR 1 (POLG)
  • Allelic: Seizures, benign familial infantile, 2 (PRRT2)
  • Allelic: Seizures, benign familial infantile, 5 (SCN1A)
  • Allelic: Seizures, benign neonatal, 1 (KCNQ2)
  • Allelic: Sensory ataxic neuropathy, dysarthria + ophthalmoparesis [SANDO] (POLG)
  • Allelic: Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Allelic: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
  • Allelic: Spinocerebellar ataxia with epilepsy [SCAE] (POLG)
  • Allelic: Spinocerebellar ataxia, AR 13 (GRM1)
  • Allelic: Spinocerebellar ataxia, AR 14 (SPTBN2)
  • Allelic: Spinocerebellar ataxia, AR 16 (STUB1)
  • Allelic: Stargardt disease 3 (ELOVL4)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Alexander disease (GFAP)
  • Ataxia, sensory, 1, AD (RNF170)
  • Ataxia-pancytopenia syndrome (SAMD9L)
  • Behr syndrome [early-onset optic atrophy, neurologic features, including ataxia] (OPA1)
  • CAPOS [Cereb. ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorin. hearing loss] syndrome (ATP1A3)
  • Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
  • Cerebellar ataxia, nonprogressive, with mental retardation (CAMTA1)
  • Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
  • Charcot-Marie-Tooth disease, axonal, type 2A2A + 2A2B (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2T (MME)
  • Chorea, hereditary benign (NKX2-1)
  • Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Cognitive impairment with/-out cerebellar ataxia (SCN1A)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
  • Developmental + epileptic encephalopathy 66 (PACS2)
  • Dyskinesia, familial, with facial myokymia (ADCY5)
  • Dystonia 4, torsion, AD (TUBB4A)
  • Dystonia 9 (SLC2A1)
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
  • Dystonia-12 (ATP1A3)
  • Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
  • Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
  • Episodic ataxia, type 2 (CACNA1A)
  • Episodic ataxia, type 6 (SLC1A3)
  • Episodic ataxia/myokymia syndrome (KCNA1)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • Gillespie syndrome [aniridia, cerebellar ataxia + mental retardation] (ITPR1)
  • Hereditary motor and sensory neuropathy VIA (MFN2)
  • Huntington disease-like 1 (PRNP)
  • Hyperekplexia 1 (GLRA1)
  • Hypotonia, ataxia + delayed development syndrome (EBF3)
  • Intellectual developmental disorder with/-out epilepsy or cerebellar ataxia (RORA)
  • Leukodystrophy, hypomyelinating, 16 (TMEM106B)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Lissencephaly 3 (TUBA1A)
  • Mental retardation, AD 5 (SYNGAP1)
  • Migraine, familial basilar (ATP1A2)
  • Migraine, familial hemiplegic, 2 (ATP1A2)
  • Migraine, familial hemiplegic, 3 (SCN1A)
  • Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
  • Myokymia (KCNQ2)
  • Myopathy, mitochondrial + ataxia (MSTO1)
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, seizures (IRF2BPL)
  • Neurodevelopmental disorder with/-out variable brain abnormalities (MAPK8IP3)
  • Optic atrophy plus syndrome (OPA1)
  • Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
  • Perrault syndrome 5 (TWNK)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spinocerebellar ataxia 1 (ATXN1_CAG)
  • Spinocerebellar ataxia 10 (ATXN10_ATTCT)
  • Spinocerebellar ataxia 11 (TTBK2)
  • Spinocerebellar ataxia 12 (PPP2R2B_CAG)
  • Spinocerebellar ataxia 14 (PRKCG)
  • Spinocerebellar ataxia 15 (ITPR1)
  • Spinocerebellar ataxia 17 (TBP_CAG)
  • Spinocerebellar ataxia 19 (KCND3)
  • Spinocerebellar ataxia 21 (TMEM240)
  • Spinocerebellar ataxia 23 (PDYN)
  • Spinocerebellar ataxia 25 (PNPT1)
  • Spinocerebellar ataxia 26 (EEF2)
  • Spinocerebellar ataxia 27 (FGF14)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • Spinocerebellar ataxia 34 (ELOVL4)
  • Spinocerebellar ataxia 36 (NOP56_GGCCTG)
  • Spinocerebellar ataxia 37 (DAB1)
  • Spinocerebellar ataxia 41 (TRPC3)
  • Spinocerebellar ataxia 42 (CACNA1G)
  • Spinocerebellar ataxia 43 (MME)
  • Spinocerebellar ataxia 44 (GRM1)
  • Spinocerebellar ataxia 46 (PLD3)
  • Spinocerebellar ataxia 47 (PUM1)
  • Spinocerebellar ataxia 48 (STUB1)
  • Spinocerebellar ataxia 5 (SPTBN2)
  • Spinocerebellar ataxia 6 (CACNA1A + CACNA1A-CAG)
  • Spinocerebellar ataxia 8 (ATXN8)
  • Spinocerebellar ataxia 8 (ATXN8OS)
  • Spinocerebellar ataxia, AR 20 [both, AD + AR; biallelic more severe disease; panelapp] 20 (SNX14)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G11.-

Bioinformatik und klinische Interpretation

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