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ErkrankungAtaxie, autosomal dominant [Erwachsenenalter]; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 61 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
38 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
17,4 kb (Core-/Basis-Gene)
106,1 kb (Erweitertes Panel)
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
ATXN12448AD
ATXN23462AD
ATXN31086AD und/oder Ass
CACNA1A6786AD und/oder Ass
KCNA11488AD
PRKCG2094AD
AFG3L22394AD und/oder AR
ATP1A23063AD
ATP1A33042AD
ATXN72679AD
CACNA1G6945AD
CAMTA15022AD
DNAJC5597AD
DNMT14899AD und/oder Impr
ELOVL4945AD und/oder AR
FGF14744AD
GFAP1299AD
ITPR18088AD und/oder AR
KCNC32274AD
KCND31968AD
MFN22274AD und/oder AR und/oder Dig und/oder Sus
POLG3720AD und/oder AR
PPP2R2B1350AD
PRNP762AD
PRRT21023AD
PUM13602AD
RNF170777AD und/oder AR
SAMD9L4756AD
SCN8A5943AD
SLC1A31629AD
SPTBN27173AD und/oder AR
TMEM240522AD
TTBK23735AD
TUBA1A1356AD
TUBB2B1338AD
TUBB31353AD
TUBB4A1335AD
TWNK2055AD und/oder 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: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1_CAG)
  • Allelic: Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • Allelic: Creutzfeldt-Jakob disease (PRNP)
  • 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 (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 14 (SPTBN2)
  • Allelic: Stargardt disease 3 (ELOVL4)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Ataxia, sensory, 1, AD (RNF170)
  • Ataxia-pancytopenia syndrome (SAMD9L)
  • Alexander disease (GFAP)
  • Allelic: Combined oxidative phosphorylation deficiency 13 (PNPT1)
  • Allelic: Deafness, AR 70, with/-out adult-onset neurodegeneration (PNPT1)
  • Allelic: Parkinson disease, susceptibility to (ATXN8OS)
  • Allelic: Spinocerebellar ataxia, AR 13 (GRM1)
  • Allelic: Spinocerebellar ataxia, AR 16 (STUB1)
  • 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
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder Ass
  • AD und/oder Impr
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G11.-

Bioinformatik und klinische Interpretation

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