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ErkrankungBewegungsstörungen, Beginn im Erwachsenenalter

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 94 Genen zur umfassenden Untersuchung von bekannten genetisch bedingten Bewegungsstörungen des Erwachsenenalters

ID
BP5858
Anzahl Gene
89 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
200,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTB1128AD
AFG3L22394AD und/oder AR
ANO32946AD
APTX1029AR
ARSA1530AR
ATM9171AD und/oder AR und/oder SMu und/oder Sus
ATP13A23543AR
ATP1A23063AD
ATP1A33042AD
ATP7B4398AR
ATXN12448AD
ATXN23462AD
ATXN31086AD und/oder Ass
AUH1020AR
C19orf12459AR
C9orf721446AD
CACNA1A6786AD und/oder Ass
CHCHD2511AD
CHMP2B642AD
CIZ12529Ass
CP3198AR
CSF1R2919AD
CSTB297AR
CYP27A11596AR
DCAF171563AR
DCTN13837AD und/oder AR und/oder Sus
DDC1443AR
DNAJC62913AR
EIF4G14821AD und/oder Sus
FBXO71332AR
FOXG11470AD
FTL528AD und/oder AR
GBA1611AD und/oder AR und/oder Sus
GCH1753AD und/oder AR
GFAP1299AD
GLB12034AR
GNAL1146AD
GRN1782AD und/oder AR
GTPBP21826AR
HPCA582AD
JPH3561AD
KMT2B8232AD
LRRK27584AD und/oder Mult
LYST11406AR
MAPT1326AD und/oder AR und/oder Multl und/oder Sus
MYORG2146AR
NKX2-11206AD
PANK21713AR
PARK7570AR und/oder Dig
PDE10A2370AD und/oder AR
PDE2A3095AR
PDGFB726AD
PDGFRB3321AD und/oder Gen Fusion
PINK11746AR und/oder Dig und/oder Sus
PLA2G62421AR
PLP1834XLR
PNKD429AD
PPP2R2B1350AD
PPP2R5D1356AD
PRKN1398AD und/oder SMu und/oder Sus
PRKRA942AR
PRNP762AD
PRRT21023AD
PTS438AR
QDPR735AR
RAB39B642XLR
RNF2162772AR
SGCE1314AD
SLC19A31491AR
SLC20A21959AD
SLC2A11479AD und/oder AR
SLC30A101458AR
SNCA423AD
SPG117332AR
SPR786AD und/oder AR
SYNJ14839AR
TAF15682XLR
TBK12190AD und/oder Ass
THAP1642AD
TIMM8A294XLR
TOR1A999AD
TUBB4A1335AD
UCHL1672AR und/oder Sus
VAMP2373AD
VPS13A9408AR
VPS352391AD
WDR451086XLD
XPR12106AD
YY11245AD

Infos zur Erkrankung

Klinischer Kommentar

Bewegungsstörungen umfassen eine lange Reihe heterogener neurologischer Syndrome, die die Fähigkeit zur Erzeugung und Kontrolle von Bewegungen aufgrund von Funktionsstörungen in den Basalganglien und/oder den damit verbundenen Strukturen beeinträchtigen. Bewegungsstörungen können erworben sein oder als Folge zahlreicher Erbkrankheiten auftreten, wobei sich auch letztere durch eine große klinische und genetische Heterogenität und häufig durch klinische Überlappungen auszeichnen, was oftmals mehrdeutige Genotyp-Phänotyp-Korrelationen hervorruft. Die schwierige klinische Diagnostik ist daher mitunter keine wirklich solide Basis für gezielte Mutationsanalysen. Unsere genetische Diagnose-Strategie mittels Hochdurchsatz-Sequenzier-Technologie umfasst knapp 100 Gene, die an Bewegungsstörungen beteiligt sind. Die Mutationshäufigkeiten variieren in den verschiedenen Krankheitskategorien, und die phänotypischen Spektren sind recht breit und überschneiden sich. Da auch die Genotyp-Phänotyp-Korrelationen im Großen und Ganzen unterschiedlich sind, hängt die diagnostische Ausbeute stark vom individuellen Befund des Patienten ab, liegt aber durchschnittlich bei über 25%. Daher schließt andererseits aber ein negatives DNA-Testergebnis die klinische Diagnose nicht aus.

 

Synonyme
  • DD: Dystonie, Chorea, Parkinson, Basalganglien-, Kanal- oder verwandte Erkrankungen
  • Allelic: Aphasia, primary progressive (GRN)
  • Allelic: Arthrogryposis multiplex congenita 5 (TOR1A)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: CAPOS syndrome (ATP1A3)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
  • Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
  • Allelic: Dementia, Lewy body (SNCA)
  • Allelic: Dermatofibrosarcoma protuberans (PDGFB)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Fetal akinesia, resp. insuff., microcephaly, polymicrogyria + dysmorphic face (ATP1A2)
  • Allelic: Gaucher disease, perinatal lethal (GBA)
  • Allelic: Intellectual developmental disorder, XL 29 (ARX)
  • Allelic: Intellectual developmental disorder, XL 72 (RAB39B)
  • Allelic: Intellectual developmental disorder, XL syndromic 33 (TAF1)
  • Allelic: Kufor-Rakeb syndrome (ATP13A2)
  • Allelic: Lewy body dementia, susceptibility to (GBA)
  • Allelic: Meningioma, SIS-related (PDGFB)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Seizures, benign familial infantile, 2 (PRRT2)
  • Allelic: Spastic paraplegia 43, AR (C19orf2)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • 3-methylglutaconic aciduria, type I (AUH)
  • Alexander disease (GFAP)
  • Alternating hemiplegia of childhood 1 (ATP1A2)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Amyotrophic lateral sclerosis 5, juvenile (SPG11)
  • Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
  • Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2_CAG)
  • Aromatic L-amino acid decarboxylase deficiency (DDC)
  • Ataxia, early-onset, with oculomotor apraxia + hypoalbuminemia (APTX)
  • Ataxia-telangiectasia (ATM)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Basal ganglia calcification, idiopathic, 1 (SLC20A2)
  • Basal ganglia calcification, idiopathic, 5 (PDGFB)
  • Basal ganglia calcification, idiopathic, 6 (XPR1)
  • Basal ganglia calcification, idiopathic, 7, AR (MYORG syn. KIAA1161)
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis (CSF1R)
  • Cerebellar ataxia (CP)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Cerebral amyloid angiopathy, PRNP-related (PRNP)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Ceroid lipofuscinosis, neuronal, 11 (GRN)
  • Chediak-Higashi syndrome (LYST)
  • Chorea, hereditary benign (NKX2-1)
  • Choreoacanthocytosis (VPS13A)
  • Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Creutzfeldt-Jakob disease (PRNP)
  • Dementia, frontotemporal, with/-out parkinsonism (MAPT)
  • Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
  • Developmental + epileptic encephalopathy 1 (ARX)
  • Developmental + epileptic encephalopathy 42 (CACNA1A)
  • Developmental + epileptic encephalopathy 53 (SYNJ1)
  • Developmental + epileptic encephalopathy 98 (ATP1A2)
  • Developmental + epileptic encephalopathy 99 (ATP1A3)
  • Dyskinesia, limb + orofacial, infantile-onset (PDE10A)
  • Dystonia 16 (PRKRA)
  • Dystonia 2, torsion, AR (HPCA)
  • Dystonia 23 [panelapp, MONDO:0013928] (CIZ1)
  • Dystonia 24 (ANO3)
  • Dystonia 25 (GNAL)
  • Dystonia 28, childhood-onset (KMT2B)
  • Dystonia 30 (VPS16)
  • Dystonia 4, torsion, AD (TUBB4A)
  • Dystonia 6, torsion (THAP1)
  • Dystonia 9 (SLC2A1)
  • Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
  • Dystonia, juvenile-onset (ACTTB)
  • Dystonia-1, torsion (TOR1A)
  • Dystonia-11, myoclonic (SGCE)
  • Dystonia-12 (ATP1A3)
  • Dystonia-Parkinsonism, XL (TAF1)
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 (TBK1)
  • Epilepsy, progressive myoclonic 1A, Unverricht + Lundborg (CSTB_CCCCGCCCCGCG)
  • Episodic ataxia, type 2 (CACNA1A)
  • Episodic ataxia, type 2 (CACNA1A_CAG)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72_GGGGCC)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (TBK1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (CHMP2B)
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • GM1-gangliosidosis, type I, II, III (GLB1)
  • Gabriele-de Vries syndrome (YY1)
  • Gaucher disease, type I, II, III; IIIC (GBA)
  • Gerstmann-Straussler disease (PRNP)
  • HARP syndrome: Hypoprebetalipoproteinemia, Acanthocytosis, Rp, Pallidal degen. (PANK2)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Huntington disease-like 1 (PRNP)
  • Huntington disease-like 2 (JPH3_CAG)
  • Hydranencephaly with abnormal genitalia (ARX)
  • Hyperferritinemia-cataract syndrome (FTL)
  • Hypermanganesemia with dystonia 1 (SLC30A10)
  • Hyperphenylalaninemia, BH4-deficient, A (PTS)
  • Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Hyperphenylalaninemia, BH4-deficient, C (QDPR)
  • Hypoceruloplasminemia, hereditary (CP)
  • Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Insomnia, fatal familial (PRNP)
  • Intellectual developmental disorder with paroxysmal dyskinesia or seizures (PDE2A)
  • Jaberi-Elahi syndrome (GTPBP2)
  • Kuru, susceptibility to (PRNP)
  • L-ferritin deficiency, AD + AR (FTL)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
  • Lissencephaly, XL 2 (ARX)
  • Machado-Joseph disease (ATXN3_CAG)
  • Mental retardation, AD 35 (PP2R5D)
  • Metachromatic leukodystrophy (ARSA)
  • Migraine, familial basilar (ATP1A2)
  • Migraine, familial hemiplegic, 1 (CACNA1A)
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Migraine, familial hemiplegic, 2 (ATP1A2)
  • Mohr-Tranebjaerg syndrome (TIMM8A)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Neurodegeneration with brain iron accumulation 4 (C19orf2)
  • Neurodegeneration with brain iron accumulation 5 (WDR45)
  • Neurodevelopm. disorder, hypotonia + autistic features with/-out hyperkinetic movements (VAMP2)
  • Neurodevelopmental disorder, hypotonia + autistic features with/-out hyperkinetic movements (VAMP2)
  • Neuronopathy, distal hereditary motor, type VIIB (DCTN1)
  • Parkinson disease 1 (SNCA)
  • Parkinson disease 14, AR (PLA2G6)
  • Parkinson disease 15, AR (FBXO7)
  • Parkinson disease 17 (VPS35)
  • Parkinson disease 18 (EIF4G1)
  • Parkinson disease 19a, juvenile-onset (DNAJC6)
  • Parkinson disease 19b, early-onset (DNAJC6)
  • Parkinson disease 20, early-onset (SYNJ1)
  • Parkinson disease 22, AD (CHCHD2)
  • Parkinson disease 4 (SNCA)
  • Parkinson disease 5, susceptibility to (ICHL1)
  • Parkinson disease 6, early onset (PINK1)
  • Parkinson disease 7, AR early-onset (PARK7)
  • Parkinson disease 8 (LRRK2)
  • Parkinson disease, juvenile, type 2 (PRKN)
  • Parkinson disease, late-onset, susceptibility to (ATXN2)
  • Parkinson disease, late-onset, susceptibility to (GBA)
  • Parkinson disease, susceptibility to (MAPT)
  • Parkinson disease, susceptibility to (TBP_CAG)
  • Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
  • Partington syndrome (ARX)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Perry syndrome (DCTN1)
  • Pick disease (MAPT)
  • Proud syndrome (ARX)
  • Rett syndrome, congenital variant (FOXG1)
  • Seizures, benign familial infantile, 2 (PRRT2)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic paraplegia 11, AR (SPG11)
  • Spastic paraplegia 2, XL (PLP1)
  • Spastic paraplegia 78, AR (ATP13A2)
  • Spastic paraplegia 79, AR (UCHL1)
  • Spinocerebellar ataxia 1 (ATXN1_CAG)
  • Spinocerebellar ataxia 12 (PPP2R2B_CAG)
  • Spinocerebellar ataxia 17 (TBP_CAG)
  • Spinocerebellar ataxia 2 (ATXN2_CAG)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • Spinocerebellar ataxia 6 (CACNA1A)
  • Spinocerebellar ataxia 6 (CACNA1A_CAG)
  • Spinocerebellar ataxia, AR 29 (VPS41)
  • Spongiform encephalopathy with neuropsychiatric features (PRNP)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Striatal degeneration, AD (PDE10A)
  • Supranuclear palsy, progressive (MAPT)
  • Supranuclear palsy, progressive atypical (MAPT)
  • Thiamine metabolism dysfunction syndr. 2 (biotin-/thiamine-resp. encephalopathy type 2 (SLC19A3)
  • Waisman syndrome (RAB39B)
  • Wilson disease (ATP7B)
  • Woodhouse-Sakati syndrome (DCAF17)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Multl und/oder Sus
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Ass
  • AD und/oder Gen Fusion
  • AD und/oder Mult
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Dig
  • AR und/oder Dig und/oder Sus
  • AR und/oder Sus
  • Ass
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
R25.8

Bioinformatik und klinische Interpretation

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