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Klinische FragestellungSpastische Paraplegie, infantil; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Spastische Paraplegie, infantil, mit 12 "core candidate"-Genen bzw. zusammen genommen >100 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
SP8521
Anzahl Gene
92 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
27,0 kb (Core-/Core-canditate-Gene)
196,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
AP4B12220NM_006594.5AR
AP4E13414NM_007347.5AR
AP4M11362NM_004722.4AR
AP4S1480NM_007077.5AR
ATL11677NM_015915.5AD
CYP7B11521NM_004820.5AR
HSPD11722NM_002156.5AR
L1CAM3774NM_000425.5XLR
PLP1834NM_000533.5XLR
REEP2765NM_001271803.2AD, AR
SPAST1851NM_014946.4AD
SPG117332NM_025137.4AR
ABCD12238NM_000033.4XLR
ADAR2796NM_001111.5AR
AFG3L22394NM_006796.3AD, AR
ALDH18A12388NM_002860.4AD, AR
ALDH3A21458NM_000382.3AR
ALS24974NM_020919.4AR
AMPD22478NM_001368809.2AR
AP5Z12424NM_014855.3AR
ARG1969NM_000045.4AR
ARL6IP1612NM_015161.3AR
ATP13A23543NM_022089.4AR
B4GALNT11437NM_001276468.2AR
C19orf12459NM_001031726.3AR, AD
CAPN12145NM_001198868.2AR
CPT1C2379NM_001136052.3AD
CYP27A11596NM_000784.4AR
CYP2U11635NM_183075.3AR
DARS11506NM_001349.4AR
DDHD12640NM_001160147.2AR
DDHD22136NM_015214.3AR
ELOVL1847NM_001256399.2AD
ENTPD11554NM_001098175.2AR
ERLIN11047NM_006459.4AR
ERLIN21020NM_007175.8AR
FA2H1119NM_024306.5AR
FAR11548NM_032228.6AR, AD
FARS21356NM_006567.5AR
FXN633NM_000144.5AR
GAD11785NM_000817.3AR
GALC2058NM_000153.4AR
GBA22784NM_020944.3AR
GCH1753NM_000161.3AD, AR
GJA11149NM_000165.5AD
GJC21320NM_020435.4AR
GLRX5474NM_016417.3AR
GPT21572NM_133443.4AR
HACE12730NM_020771.4AR
HIKESHI647NM_016401.4AR
HPDL1117NM_032756.4AR
IBA571071NM_001010867.4AR
KCNA21500NM_004974.4AD
KDM5C4683NM_004187.5XLR
KIDINS2205431NM_020738.4AD
KIF1A5073NM_004321.8AD, AR
KIF1C3312NM_006612.6AR
KIF5A3099NM_004984.4AD
KLC22244NM_001134774.2AR
KLC41999
  • Keine OMIM-Gs verknüpft
NM_138343.4AR
KPNA31583NM_002267.4AD
MAPK8IP34339NM_001040439.2AD
MTRFR501NM_152269.5AR
NDUFA12438NM_018838.5AR
NIPA1990NM_144599.5AD
NKX6-2837NM_177400.3AR
NSRP11995NM_001261467.2AR
NT5C21686NM_001134373.3AR
OPA3540NM_025136.4AR
PCYT21269NM_001184917.3AR
PNPLA63984NM_006702.5AR
REEP1606NM_022912.3AD
RTN21638NM_005619.5AD
SACS13740NM_014363.6AR
SERAC11965NM_032861.4AR
SLC16A21620NM_006517.5XLR
SLC1A41607NM_003038.5AR
SLC25A15906NM_014252.4AR
SLC2A11479
  • Keine OMIM-Gs verknüpft
NM_006516.4AD
SPART2001NM_015087.5AR
SPG21927NM_016630.7AR
SPG72388NM_003119.4AR, AD
STN11221NM_024928.5AR
TAF81109NM_138572.3AR
TECPR23804NM_001172631.3AR
TFG1203NM_006070.6AR
TMEM63C2456NM_020431.4AR
TUBB4A1335NM_006087.4AD
UBAP11966NM_001171201.1AD
WASHC53480NM_014846.4AD
WDR482034NM_020839.4AR
ZFYVE267620NM_015346.4AR

Infos zur Erkrankung

Klinischer Kommentar

Hereditäre spastische Paraplegien (HSPs) sind eine heterogene Gruppe monogener neurologischer Erkrankungen, die durch längenabhängige Degeneration des Kortikospinaltrakts und der Hinterstränge hervorgerufen wird und sich mit bilateraler Spastizität der unteren Extremitäten, Hyperreflexie und Plantar-Reaktionen der Streckmuskeln äußert. HSPs können im Säuglings-, Kindes-, Jugend- oder Erwachsenenalter auftreten. Weiterhin können kognitive Beeinträchtigung, Ataxie, Dysarthrie, Neuropathie oder Krampfanfälle in mehr als der Hälfte der Fälle wichtige Zusatzsymptome sein. Es kommen autosomal dominante, autosomal rezessive oder X-gebundene Vererbungsmodi vor, jeweils mit unterschiedlicher Penetranz und ggf. hochvariabler Expressivität, 13-40% der Fälle treten sporadisch auf. Mittels NGS panel Diagnostik wird die diagnostische Ausbeute signifikant gesteigert, wobei die zusätzlichen Ausbeute-Verbesserungen durch „Exome-“ und „whole genome sequencing“ noch nicht klar zu erkennen sind. Ein unauffälliger genetischer Befund bedeutet nach wie vor keinen sicheren Ausschluss der klinischen Verdachtsdiagnose.

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1509/

https://www.thelancet.com/action/showPdf?pii=S1474-4422%2819%2930235-2

 

Synonyme
  • Alias: Hereditary spastic paraplegia, HSP
  • Alias: Spastic paraplegia, SPG
  • Allelic: Adrenoleukodystrophy (ABCD1)
  • Allelic: Adrenomyeloneuropathy, adult (ABCD1)
  • Allelic: Amyotrophic lateral sclerosis 5, juvenile (SPG11)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
  • Allelic: Bile acid synthesis defect, congenital, 3 (CYP7B1)
  • Allelic: Boucher-Neuhauser syndrome (PNPLA6)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
  • Allelic: Combined oxidative phosphorylation deficiency 14 (FARS2)
  • Allelic: Corpus callosum, partial agenesis of (L1CAM)
  • Allelic: Cutis laxa, AD 3 (ALDH18A1)
  • Allelic: Cutis laxa, AR, type IIIA (ALDH18A1)
  • Allelic: Dystonia 9 (SLC2A1)
  • Allelic: Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
  • Allelic: GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • Allelic: GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Allelic: Hereditary motor + sensory neuropathy, Okinawa type (TFG)
  • Allelic: Hydrocephalus due to aqueductal stenosis (L1CAM)
  • Allelic: Hydrocephalus with Hirschsprung disease (L1CAM)
  • Allelic: Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
  • Allelic: Hypoplastic left heart syndrome 1 (GJA1)
  • Allelic: Immunodeficiency 95 (IFIH1)
  • Allelic: Kufor-Rakeb syndrome (ATP13A2)
  • Allelic: Laurence-Moon syndrome (PNPLA6)
  • Allelic: Leukodystrophy, hypomyelinating, 4 (HSPD1)
  • Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
  • Allelic: Myoclonus, intractable, neonatal (KIF5A)
  • Allelic: Neuronopathy, distal hereditary motor, type VB (REEP1)
  • Allelic: Neuropathy, distal hereditary motor, type VA (BSCL2)
  • Allelic: Neuropathy, hereditary sensory, type ID (ATL1)
  • Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Allelic: Oliver-McFarlane syndrome (PNPLA6)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Palmoplantar keratoderma with congenital alopecia (GJA1)
  • Allelic: Pelizaeus-Merzbacher disease (PLP1)
  • Allelic: Ritscher-Schinzel syndrome 1 (WASHC5)
  • Allelic: Singleton-Merten syndrome 1 (IFIH1)
  • Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Allelic: Stuttering, familial persistent, 1 (AP4E1)
  • Allelic: Syndactyly, type III (GJA1)
  • 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
  • 3-methylglutaconic aciduria, type III (OPA3)
  • Aicardi-Goutieres syndrome 2 (RNASEH2B)
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Aicardi-Goutieres syndrome 7 (IFIH1)
  • Allan-Herndon-Dudley syndrome (SLC16A2)
  • Allelic: Anemia, sideroblastic, 3, pyridoxine-refractory (GLRX5)
  • Allelic: Atrioventricular septal defect 3 (GJA1)
  • Allelic: Craniometaphyseal dysplasia, AR (GJA1)
  • Allelic: Deafness, AR 119 (SPATA5L1)
  • Argininemia (ARG1)
  • CRASH syndrome (L1CAM)
  • Cataracts, spastic paraparesis + speech delay (FAR1)
  • Cerebroretinal microangiopathy with calcifications + cysts 2 (STN1)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Charcot-Marie-Tooth disease, axonal, type 2U (MARS syn. MARS1)
  • Developmental + epileptic encephalopathy 32 (KCNA2)
  • Developmental and epileptic encephalopathy 89 (GAD1)
  • Dystonia 4, torsion, AD (TUBB4A)
  • Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
  • Friedreich ataxia (FXN_GAA, FXN)
  • Friedreich ataxia with retained reflexes (FXN_GAA, FXN)
  • Harel-Yoon syndrome (ATAD3A)
  • Hengel-Maroofian-Schols syndrome (BCAS3)
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (SLC25A15)
  • Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Hypomyelination with brainstem, spinal cord involvement + leg spasticity (DARS1)
  • Ichthyotic keratoderma, spasticity, hypomyelination + dysmorphic facies (ELOVL1)
  • Intellectual developmental disorder, XL syndromic, Claes-Jensen type (KDM5C)
  • Krabbe disease (GALC)
  • Leukodystrophy, hypomyelinating, 13 (HIKESHI)
  • Leukodystrophy, hypomyelinating, 3 (AIMP1)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
  • MASA syndrome (L1CAM)
  • Mitochondrial complex I deficiency, nuclear type 23 (NDUFA12)
  • NESCAV syndrome (KIF1A)
  • Neurodevelopmental disorder + motor impairment, no language, cerebr. hypomyel., brain atrophy (TAF8)
  • Neurodevelopmental disorder with dysmorphic features, spasticity + brain abnormalities (PGAP1)
  • Neurodevelopmental disorder with hearing loss + spasticity (SPATA5L1)
  • Neurodevelopmental disorder with microcephaly + spastic paraplegia (GPT2)
  • Neurodevelopmental disorder with progressive spasticity + brain white matter abnormalities (HPDL)
  • Neurodevelopmental disorder with spasticity, seizures, brain abnormalities (NSRP1)
  • Neurodevelopmental disorder with/-out variable brain abnormalities (MAPK8IP3)
  • Neurodevelopmental disorder, spastic quadriplegia, brain abnormalities with/-out seizures (WDR45B)
  • Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Oculodentodigital dysplasia (GJA1)
  • Oculodentodigital dysplasia, AR (GJA1)
  • Optic atrophy 3 with cataract (OPA3)
  • Parkinson disease 5, susceptibility to (UCHL1)
  • Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
  • Pituitary adenoma 4, ACTH-secreting, somatic (USP8)
  • Silver spastic paraplegia syndrome (BSCL2)
  • Sjogren-Larsson syndrome (ALDH3L2)
  • Spastic ataxia 2, AR (KIF1C)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic ataxia 8, AR, with hypomyelinating leukodystrophy (NKX6-2)
  • Spastic ataxia, Charlevoix-Saguenay type (SACS)
  • Spastic paralysis, infantile onset ascending (ALS2)
  • Spastic paraplegia + psychomotor retardation with/-out seizures (HACE1)
  • Spastic paraplegia 10, AD (KIF5A)
  • Spastic paraplegia 11, AR (SPG11)
  • Spastic paraplegia 12, AD (RTN2)
  • Spastic paraplegia 13, AD (HSPD1)
  • Spastic paraplegia 15, AR (ZFYVE26)
  • Spastic paraplegia 18, AR (ERLIN2)
  • Spastic paraplegia 2, XL (PLP1)
  • Spastic paraplegia 21 AR; Mast syndrome (SPG21)
  • Spastic paraplegia 26, AR (B4GALNT1)
  • Spastic paraplegia 28, AR (DDHD1)
  • Spastic paraplegia 30, AD, AR
  • Spastic paraplegia 31, AD (REEP1)
  • Spastic paraplegia 35, AR (FA2H)
  • Spastic paraplegia 39, AR (PNPLA6)
  • Spastic paraplegia 3A, AD (ATL1)
  • Spastic paraplegia 4, AD (SPAST)
  • Spastic paraplegia 43, AR (C19orf12)
  • Spastic paraplegia 44, AR (GJC2)
  • Spastic paraplegia 45, AR (NT5C2)
  • Spastic paraplegia 46, AR (GBA2)
  • Spastic paraplegia 47, AR (AP4B1)
  • Spastic paraplegia 48, AR (AP5Z1)
  • Spastic paraplegia 49, AR (TECPR2)
  • Spastic paraplegia 50, AR (AP4M1)
  • Spastic paraplegia 51, AR (AP4E1)
  • Spastic paraplegia 52, AR (AP4S1)
  • Spastic paraplegia 55, AR (MTRFR)
  • Spastic paraplegia 56, AR (CYP2U1))
  • Spastic paraplegia 57, AR (TFG)
  • Spastic paraplegia 5A, AR (CYP7B1)
  • Spastic paraplegia 6, AD (NIPA1)
  • Spastic paraplegia 61, AR (ARL6IP1)
  • Spastic paraplegia 62 (ERLIN1)
  • Spastic paraplegia 63 (AMPD2)
  • Spastic paraplegia 64, AR (ENTPD1)
  • Spastic paraplegia 7, AR (SPG7)
  • Spastic paraplegia 72, AD + AR (REEP2)
  • Spastic paraplegia 73, AD (CPT1C)
  • Spastic paraplegia 74, AR (IBA57)
  • Spastic paraplegia 76, AR (CAPN1)
  • Spastic paraplegia 77, AR (FARS2)
  • Spastic paraplegia 78, AR (ATP13A2)
  • Spastic paraplegia 79, AR (UCHL1)
  • Spastic paraplegia 8, AD (WASHC5)
  • Spastic paraplegia 80, AD (UBAP1)
  • Spastic paraplegia 82, AR (PCYT2)
  • Spastic paraplegia 83, AR (HPDL)
  • Spastic paraplegia 86, AR (ABHD16A)
  • Spastic paraplegia 87, AR (TMEM63C)
  • Spastic paraplegia 88, AD (KPNA3)
  • Spastic paraplegia 9A, AD (ALDH18A1)
  • Spastic paraplegia 9B, AR (ALDH18A1)
  • Spastic paraplegia [panelapp] (GJA1)
  • Spastic paraplegia, intellectual disability, nystagmus + obesity (KIDINS220)
  • Spastic paraplegia, optic atrophy + neuropathy (KLC2)
  • Spastic tetraplegia, thin corpus callosum + progressive microcephaly (SLC1A4)
  • Spasticity, childhood-onset, with hyperglycinemia (GLRX5)
  • Spinal muscular atrophy, lower extremity-predominant, 2A + 2B, AD (BICD2)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • Spinocerebellar ataxia, AR 18 (GRID2)
  • Troyer syndrome, spastic paraplegia with distal muscle wasting (SPART)
  • Ventriculomegaly + arthrogryposis (KIDINS220)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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