ErkrankungSpastische Paraplegie, autosomal rezessiv; Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für Spastische Paraplegie, autosomal rezessiv, mit 7 bzw. zusammen genommen 71 kuratierten Genen gemäß klinischer Verdachtsdiagnose
170,1 kb (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
NGS + x
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
C19orf12 | 459 | AR | |
CYP7B1 | 1521 | AR | |
FA2H | 1119 | AR | |
PNPLA6 | 3984 | AR | |
SPG11 | 7332 | AR | |
SPG7 | 2388 | AD und/oder AR | |
ZFYVE26 | 7620 | AR | |
ADAR | 2796 | AD und/oder AR | |
AFG3L2 | 2394 | AD und/oder AR | |
AIMP1 | 939 | AR | |
ALDH18A1 | 2388 | AD und/oder AR | |
ALDH3A2 | 1458 | AR | |
ALS2 | 4974 | AR | |
AMPD2 | 2478 | AR | |
AP4B1 | 2220 | AR | |
AP4E1 | 3414 | AD und/oder AR | |
AP4M1 | 1362 | AR | |
AP4S1 | 480 | AR | |
AP5Z1 | 2424 | AR | |
ARG1 | 969 | AR | |
ATP13A2 | 3543 | AR | |
B4GALNT1 | 1437 | AR | |
BICD2 | 2568 | AD | |
CAPN1 | 2145 | AR | |
CYP27A1 | 1596 | AR | |
CYP2U1 | 1635 | AR | |
DARS1 | 1506 | AR | |
DDHD1 | 2640 | AR | |
DDHD2 | 2136 | AR | |
ENTPD1 | 1554 | AR | |
ERLIN1 | 1047 | AR | |
ERLIN2 | 1020 | AD und/oder AR | |
FARS2 | 1356 | AR | |
FXN | 633 | AR und/oder Ass | |
GAD1 | 1785 | AR | |
GBA2 | 2784 | AR | |
GJC2 | 1320 | AD und/oder AR | |
GRID2 | 3024 | AR | |
HACE1 | 2730 | AD und/oder Sus | |
HIKESHI | 647 | AR | |
IBA57 | 1071 | AR | |
KIF1A | 5073 | AD und/oder AR | |
KIF1C | 3312 | AR | |
KLC2 | 2244 | AR | |
KLC4 | 1999 |
| AR |
LYST | 11406 | AR | |
MAG | 1806 | AR | |
MARS1 | 2703 | AD und/oder AR | |
MARS2 | 1782 | AR | |
MTPAP | 1749 | AR | |
MTRFR | 501 | AR | |
NKX6-2 | 837 | AR | |
NT5C2 | 1686 | AR | |
OPA3 | 540 | AD und/oder AR | |
PGAP1 | 2769 | AR | |
POLR3A | 4173 | AR | |
POLR3K | 330 | AR | |
REEP2 | 765 | AD und/oder AR | |
RNASEH2B | 939 | AR | |
SACS | 13740 | AR | |
SARS2 | 1563 | AR | |
SERAC1 | 1965 | AR | |
SLC1A4 | 1607 | AR | |
SLC25A46 | 1257 | AR | |
SPART | 2001 | AR | |
SPG21 | 927 | AR | |
TECPR2 | 3804 | AR | |
TFG | 1203 | AD und/oder AR | |
USP8 | 3357 | AR | |
WDR45B | 1035 | AR | |
WDR48 | 2034 | AR |
Infos zur Erkrankung
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. Autosomal rezessive HSP ist sehr heterogen, auch werden neue Gene identifiziert. Neue Ursachen der autosomal rezessiven HSP können auf eine Familie oder auf ein Einzel-Individuum beschränkt sein. Autosomal rezessive HSP kommt bei ca. 25%-30% aller HSP-Patienten vor. 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
- Alias: Hereditary spastic paraplegia, HSP
- Alias: Spastic paraplegia [SPG], AR
- Allelic: Amyotrophic lateral sclerosis 5, juvenile (SPG11)
- Allelic: Boucher-Neuhauser syndrome (PNPLA6)
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
- Allelic: Combined oxidative phosphorylation deficiency 7 (C12orf65)
- Allelic: Hyperuricemia, pulmonary hypertension, renal failure + alkalosis (SARS2)
- Allelic: Laurence-Moon syndrome (PNPLA6)
- Allelic: Leukodystrophy, hypomyelinating, 2 (GJC2)
- Allelic: Lymphatic malformation 3 (GJC2)
- Allelic: Neurodegeneration with brain iron accumulation 4 (C19orf12)
- Allelic: Oliver-McFarlane syndrome (PNPLA6)
- Allelic: Spinocerebellar ataxia 28 (AFG3L2)
- 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
- 3-methylglutaconic aciduria, type III (OPA3)
- Aicardi-Goutieres syndrome 2 (RNASH2B)
- Aicardi-Goutieres syndrome 6 (ADAR)
- Argininemia (ARG1)
- Cerebral palsy, spastic quadriplegic, 1 (GAD1)
- Cerebrotendinous xanthomatosis (CYP27A1)
- Charcot-Marie-Tooth disease, axonal, type 2U (MARS1)
- Chediak-Higashi syndrome (LYST)
- Friedreich ataxia (FXN GAA)
- Hypomyelination with brainstem + spinal cord involvement + leg spasticity (DARS1)
- Kufor-Rakeb syndrome (ATP13A2)
- Leukodystrophy, hypomyel., 7, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3A)
- Leukodystrophy, hypomyelinating, 13 (HIKESHI)
- Leukodystrophy, hypomyelinating, 21 (POLR3K)
- Leukodystrophy, hypomyelinating, 3 (AIMP1)
- Mast syndrome (SPG21)
- Mental retardation, AR 42 (PGAP1)
- Neurodevelopmental disorder with spastic quadriplegia + brain abnorm. with/-out seizures (WDR45B)
- Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
- Pituitary adenoma 4, ACTH-secreting, somatic (USP8)
- Pontocerebellar hypoplasia, type 1E (SLC25A46)
- Progressive Spastic Paresis [panelapp] (SARS2)
- Sjogren-Larsson syndrome (ALDH3A2)
- Spastic ataxia 2, AR (KIF1C)
- Spastic ataxia 3, AR (MARS2)
- Spastic ataxia 4, AR (MTPAP)
- 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 11, AR (SPG11)
- Spastic paraplegia 15, AR (ZFYVE26)
- Spastic paraplegia 18, AR (ERLIN2)
- Spastic paraplegia 26, AR (B4GALNT1)
- Spastic paraplegia 28, AR (DDHD1)
- Spastic paraplegia 30, AR (KIF1A)
- Spastic paraplegia 35, AR (FA2H)
- Spastic paraplegia 39, AR (PNPLA6)
- 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 54, AR (DDHD2)
- Spastic paraplegia 55, AR (MTRFR syn. C12orf65)
- Spastic paraplegia 56, AR (CYP2U1)
- Spastic paraplegia 57, AR (TFG)
- Spastic paraplegia 5A, AR (CYP7B1)
- Spastic paraplegia 62, AR (ERLIN1)
- Spastic paraplegia 63, AR (AMPD2)
- Spastic paraplegia 64, AR (ENTPD1)
- Spastic paraplegia 7, AR (SPG7)
- Spastic paraplegia 72, AR (REEP2)
- Spastic paraplegia 74, AR (IBA57)
- Spastic paraplegia 75, AR (MAG)
- Spastic paraplegia 76, AR (CAPN1)
- Spastic paraplegia 77, AR (FARS2)
- Spastic paraplegia 78, AR (ATP13A2)
- Spastic paraplegia 9B, AR (ALDH18A1)
- Spastic paraplegia, childhood, complicated [genereviews] (KLC4)
- Spastic paraplegia, optic atrophy + neuropathy (KLC2)
- Spastic tetraplegia, thin corpus callosum + progressive microcephaly (SLC1A4)
- Spinocerebellar ataxia, AR 18 (GRID2)
- Troyer syndrome (SPART)
- AD
- AD und/oder AR
- AD und/oder Sus
- AR
- AR und/oder Ass
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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