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פאנלים
Spastic paraplegia
GC_30
Last update: 19.01.2026
Hereditary spastic paraplegias (HSPs) are a group of inherited disorders characterized by progressive lower-limb spasticity and weakness resulting from degeneration of the corticospinal tracts. Patients may present with pure HSP or complex disease accompanied by neuropathy, ataxia, cognitive impairment, seizures, optic atrophy, or leukodystrophy.
This panel includes genes associated with both pure and complex hereditary spastic paraplegia, including disorders affecting axonal transport, mitochondrial function, lipid metabolism, and intracellular trafficking. Representative genes include SPAST, ATL1, SPG7, SPG11, REEP1, KIF1A, CYP7B1, PNPLA6, and the AP4-complex genes (AP4B1, AP4M1, AP4E1, AP4S1).
This panel is recommended for patients with progressive spastic paraparesis as the primary clinical feature, particularly when hereditary spastic paraplegia is suspected despite phenotypic overlap with ataxia, neuropathy, or leukodystrophy.
ABCD1, ABHD16A, ACBD6, ACER3, ADAR, ADGRB2, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALK, ALS2, AMFR, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BCAS3, BHLHE22, BICD2, BLOC1S1, BORCS8, BSCL2, BTD, C12ORF65, C19ORF12, C19orf12, CACNA1G, CAPN1, CCDC82, CCT5, CDK16, CHP1, CLDN11, COASY, COQ4, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DDHD1, DDHD2, DDX3X, DSTYK, ELOVL1, ENTPD1, ERLIN1, ERLIN2, EXOSC3, EXOSC8, FA2H, FAR1, FARS2, FBXO7, FICD, FLVCR1, FXN, GAD1, GALC, GBA2, GBE1, GCH1, GJA1, GJC2, GLRX5, GPT2, HACE1, HECTD4, HEXA, HIKESHI, HMBS, HPDL, HSPD1, IBA57, IFIH1, INPP4A, IRF2BPL, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KPNA3, L1CAM, L2HGDH, LETM1, LSM7, LYST, MAG, MAPK8IP3, MARS1, MARS2, MTPAP, MTRFR, NDUFA12, NFU1, NIPA1, NKX6-2, NOTCH3, NRCAM, NSRP1, NT5C2, OGDHL, OPA3, PAH, PCYT2, PGAP1, PI4KA, PLP1, PNPLA6, POLR3A, POLR3K, PPFIBP1, PRNP, PSEN1, RAB3GAP2, RARS1, REEP1, REEP2, RETREG1, RHOB, RINT1, RNASEH2B, RNF170, RNU7-1, RTN2, SACS, SARS2, SELENOI, SERAC1, SETX, SLC16A2, SLC1A4, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SOD1, SPART, SPAST, SPATA5L1, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTSSA, STN1, TAF8, TBCB, TECPR2, TFG, TH, TMEM63C, TNR, TUBB4A, UBAP1, UCHL1, USP8, VAMP1, VPS37A, WASHC5, WDR45, WDR45B, WDR48, ZFR, ZFYVE26, ZFYVE27
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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