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ErkrankungSpastische Paraplegie, infantil; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Spastische Paraplegie, infantil, ohne Erbgangsinformation, mit 12 bzw. zusammen genommen 62 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
SP8521
Anzahl Gene
56 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
27,0 kb (Core-/Basis-Gene)
125,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AP4B12220AR
AP4E13414AD und/oder AR
AP4M11362AR
AP4S1480AR
ATL11677AD und/oder AR
CYP7B11521AR
HSPD11722AD und/oder AR
L1CAM3774XLR und/oder Dig
PLP1834XLR
REEP2765AD und/oder AR
SPAST1851AD und/oder Ass
SPG117332AR
ABCD12238XLR
ADAR2796AD und/oder AR
ALDH18A12388AD und/oder AR
ALDH3A21458AR
ALS24974AR
AMPD22478AR
AP5Z12424AR
ATP13A23543AR
B4GALNT11437AR
C19orf12459AR
CAPN12145AR
CYP2U11635AR
DDHD12640AR
DDHD22136AR
ENTPD11554AR
ERLIN11047AR
ERLIN21020AD und/oder AR
FA2H1119AR
FARS21356AR
GAD11785AR
GBA22784AR
GJC21320AD und/oder AR
HACE12730AD und/oder Sus
IBA571071AR
KIF1A5073AD und/oder AR
KIF1C3312AR
KIF5A3099AD und/oder Sus
KLC22244AR
KLC41999
  • Keine OMIM-Gs verknüpft
AR
MTRFR501AR
NIPA1990AD
NT5C21686AR
PNPLA63984AR
REEP1606AD
RTN21638AD
SLC16A21620XL
SLC2A11479AD und/oder AR
SPG21927AR
SPG72388AD und/oder AR
TECPR23804AR
TFG1203AD und/oder AR
WASHC53480AD und/oder AR
WDR482034AR
ZFYVE267620AR

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)
  • 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)
  • NESCAV syndrome (KIF1A)
  • Neurodevelopmental disorder with dysmorphic features, spasticity + brain abnormalities (PGAP1)
  • Neurodevelopmental disorder with microcephaly + spastic paraplegia (GPT2)
  • Neurodevelopmental disorder with progressive spasticity + brain white matter abnormalities (HPDL)
  • 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 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
  • AD und/oder AR
  • AD und/oder Ass
  • AD und/oder Sus
  • AR
  • XL
  • XLR
  • XLR und/oder Dig
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G11.4

Bioinformatik und klinische Interpretation

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