Amyotrophic Lateral Sclerosis Overview
Watchlist
Retrieved
2021-01-18
Source
Trials
—
Genes
C9orf72,
SOD1,
PON1,
ATXN2,
FUS,
TARDBP,
TAF15,
OPTN,
SQSTM1,
MATR3,
TBK1,
UNC13A,
CHMP2B,
NEK1,
DAO,
CFAP410,
DCTN1,
SIGMAR1,
TREM2,
CHCHD10,
ANG,
NEFH,
UBQLN2,
EPHA4,
PFN1,
HNRNPA1,
VCP,
VAPB,
PRPH,
SETX
C9orf72,
SOD1,
PON1,
ATXN2,
FUS,
TARDBP,
TAF15,
OPTN,
SQSTM1,
MATR3,
TBK1,
UNC13A,
CHMP2B,
NEK1,
DAO,
CFAP410,
DCTN1,
SIGMAR1,
TREM2,
CHCHD10,
ANG,
NEFH,
UBQLN2,
EPHA4,
PFN1,
HNRNPA1,
VCP,
VAPB,
PRPH,
SETX,
HNRNPA2B1,
PPARGC1A,
DPP6,
CCNF,
ANXA11,
GLT8D1,
ERBB4,
GLE1,
FIG4,
SCFD1,
SLC1A2,
EWSR1,
PON2,
PON3,
GFAP,
MOBP,
TP53,
ARHGEF28,
PTGS2,
SOD2,
GSR,
TNFRSF21,
SLC6A1,
CD40LG,
PLA2G4A,
CAMK1G,
DBR1,
GSTP1,
ADARB1,
CASP3,
AQP4,
C5AR1,
C3,
NEFM,
KCNJ10,
BCL2L1,
ZNF106,
KIF1B,
MSTN,
CASP9,
PSMC4,
PTPRZ1,
RARA,
EPG5,
ALS2,
CASP12,
MAPT,
IGF1R,
IGF2R,
TUBA4A,
KIFAP3,
KIF5A,
TRPM7,
SARM1,
ATXN3,
SPG11,
PSEN1,
TNIP1,
SUSD2,
MOB3B,
DCDC2,
HFE,
CENPV,
SUN3,
CST3,
DCTN4,
ST3GAL3,
GTF2H1,
ICE1,
GRN,
CSF2,
SUN2,
GRIA2,
CPNE4,
LAMA3,
LAMC2,
PTBP1,
STMN1,
NUP62,
STK36,
MAK16,
NUP98,
NEFL,
GABPA,
SRRM2,
RBMS3,
NFE2L2,
GRIP1,
GDNF,
ARAP2,
APTX,
SCN8A,
NPEPPS,
APP,
KIAA0513,
SMN1,
ARHGEF2,
WASHC5,
SNURF,
APOE,
TIAM1,
AR,
NRXN1,
TNF,
IGFALS,
KHDRBS1,
IGF1,
PNO1,
VEGFA,
BDNF,
ACTB,
BCL2,
SNCA,
SMN2,
NME9,
GTPBP1,
CNTF,
KIAA0040,
PIGL,
SNRPN,
ADA,
SIRT1,
CCL2,
GRM2,
IL6,
MAPK1,
TIA1,
CDK5,
P2RX7,
CHI3L1,
GPNMB,
RIPK1,
MIR206,
CHGB,
CHIT1,
P4HB,
GRM5,
PARP1,
IL1B,
HTT,
TNFRSF1B,
EPO,
MIR338,
LY6E,
VGF,
ABCB1,
MCIDAS,
GRM1,
DECR1,
APEX1,
CYBB,
PINK1,
ZNF512B,
XBP1,
HCLS1,
ADIPOQ,
HGF,
MMP9,
LMNB1,
ATG5,
NGF,
NRG1,
SIGLEC7,
GRIA1,
TANK,
DNM1L,
KHSRP,
FGF2,
SS18L1,
CSF3,
TUSC2,
IL2RB,
PSIP1,
HSPB1,
RBM45,
TCF3,
RAN,
CUX1,
RNF19A,
MAPK14,
NLRP3,
SMUG1,
SFPQ,
CASP1,
AIF1,
ZNF569,
KEAP1,
TPPP,
MST1,
CHCHD2,
RNASE4,
RBM8A,
RREB1,
MSC,
TMEM189-UBE2V1,
OXR1,
TMEM189,
CHGA,
ATXN2-AS,
RRM2,
CX3CR1,
ZNF629,
ATF6,
TMED9,
CNR2,
ASPM,
ZNF253,
NAIP,
ELP3,
LGALS3,
HRES1,
PPARG,
UBE2V1,
FMR1,
ERN1,
EPHB2,
LCN2,
HNRNPA1P10,
HSF1,
TTR,
ASPA,
ASIP,
SEMA3A,
VDAC1,
ZNF763,
A1CF,
TLR4,
CAT,
CCS,
THY1,
ZNF436,
HSPA4,
ROPN1L,
NIPA1,
EDN1,
CDK5R1,
TGM2,
TNPO1,
CASZ1,
CXCL8,
RTN4,
LGALS1,
RNASEL,
TMEM106B,
S100A6,
SLC1A1,
SOX2,
STAT3,
TFAM,
TGFB1,
SUMO1,
AHSA1,
SLC35A1,
VRK1,
CLEC10A,
AIMP2,
ELP1,
HNRNPDL,
VAPA,
GRAP2,
S100B,
RRM1,
VPS54,
RNASE1,
MSMB,
FIS1,
COX2,
FOXP3,
NOS1,
NOS2,
NTF3,
P2RX4,
HSPB8,
PIN1,
POLDIP2,
PTPA,
MAP2K5,
PRNP,
RAG2,
IL4,
GAL3ST1,
CRK,
AGER,
HNRNPH2,
ADAR,
HNRNPC,
CRP,
EGFR,
ADCYAP1,
LMLN,
MIR155,
PRMT1,
SUGP1,
ANPEP,
HNRNPH1,
MTOR,
CST12P,
FXN,
C19orf12,
PDIA3,
CTNNB1,
GAPDH,
TMPRSS13,
CYP27A1,
HIF1A,
CS,
LRRK2,
IFNG,
ALAD,
DES,
CP,
CCL27,
FCGR3A,
PPIA,
PHGDH,
SLC52A3,
FCGR3B,
CFDP1,
NEAT1,
SPAG11B,
ATRNL1,
SLC30A3,
ATM,
PRRT2,
SYT1,
FMO1,
CST7,
GAP43,
PDLIM3,
GSTK1,
SIRT2,
XIAP,
DENR,
CAV1,
SLPI,
CAST,
TFEB,
FN1,
CCR2,
PRKN,
APRT,
STMN2,
TLR2,
TFPI2,
ATHS,
PDC,
MAPK8,
CREBBP,
UCHL1,
MOK,
NOP56,
SLCO6A1,
RANBP2,
ATG7,
DNMT1,
RASGRF1,
UCP2,
RELA,
TSPO,
PRKCA,
TXN,
CTBS,
SIRT3,
RRAD,
TTN,
CTF1,
ATP13A2,
TRPM2,
ATXN1,
RAB5A,
DAPK2,
PVALB,
UTRN,
PRKCB,
XBP1P1,
FBXO32,
SPAG11A,
BECN1,
RAB3GAP2,
WNT5A,
EPHA3,
EPHA1,
VSNL1,
CRMP1,
VIM,
EIF4G2,
PSMD2,
SGCG,
VDR,
PTGER2,
TNFRSF1A,
EGF,
HPGDS,
GARS1,
TSHZ1,
MAOB,
SNPH,
HDAC4,
SRR,
NAT10,
SPAST,
LIG4,
LRP4,
MIR146A,
HMOX1,
HMGB1,
LSM2,
MAP2,
SIL1,
GORASP1,
PDIA2,
MTHFSD,
NPY,
ERVK-12,
SOX9,
ERVK-2,
LEP,
ERVK-11,
MFAP1,
MTCO2P12,
GJD2,
IL10,
RIPK3,
DDX20,
ABL1,
SLC17A6,
STAT5A,
PCYT1B,
IGF2,
CTR9,
FGGY,
TDP1,
CCDC88A,
HDAC9,
ABCG2,
MFN1,
KDR,
TEAD1,
RHOT1,
DNAJB2,
MET,
ERVK-22,
KITLG,
CHAF1A,
LINC01672,
CHI3L2,
UBQLN1,
MALAT1,
FNDC3A,
GLS,
PADI1,
ASRGL1,
NRP1,
CLU,
GH1,
SNAP25,
RAB11A,
DBNL,
NFKB1,
ALYREF,
MIR1825,
CCN2,
NOTCH1,
KCNIP3,
HSP90B2P,
PIK3R4,
ARHGEF7,
ALB,
GEMIN4,
ALPP,
SOS1,
HDAC6,
ALS3,
DERL1,
WNK1,
AKT1,
GPX3,
HDAC1,
MTHFR,
SLC25A37,
AKT3,
PNPLA6,
LILRA2,
MIR193A,
RBBP9,
PAPOLA,
NES,
YWHAQ,
ARPP21,
MIR29B1,
MIR93,
JTB,
MIR29B2,
MRPS30,
MIR143,
MIR23A,
MIR15A,
MIR183,
ERGIC1,
OGA,
P2RX5-TAX1BP3,
OLIG2,
EBI3,
NAMPT,
MIR4299,
PPIF,
ABCC9,
SH2B3,
OCLN,
FGFBP1,
MFN2,
MIR4649,
CALCOCO2,
PINK1-AS,
LZTS3,
ELDR,
TPTEP2-CSNK1E,
GDA,
CREB5,
H3P13,
CCL4L2,
PTGES,
BAG3,
GDF11,
GLYAT,
TSBP1,
LOC643387,
MIR17HG,
MIR326,
MIR375,
ERLIN1,
MIR378A,
MIR494,
MIR193B,
MIR524,
ZNF704,
POU5F1P3,
POU5F1P4,
RAMP3,
CARM1,
UNC13B,
MIR582,
OLFM1,
RACK1,
TUBA1B,
MIR638,
LANCL1,
STUB1,
MIR1246,
POTEF,
CLEC4C,
MIR142,
NOP53,
SRCIN1,
RUBCNL,
IFT74,
UBN1,
ATAT1,
DHDDS,
SLC40A1,
FLVCR1,
KCNIP1,
ASAP1,
GGNBP2,
ASCC1,
HDAC11,
ATL1,
ARHGAP24,
REM1,
MIR139,
TTBK1,
PABPC1,
CYFIP2,
NOX1,
ATAD1,
ANKRD1,
CACYBP,
AGO2,
HTRA2,
HCAR1,
TUBGCP4,
BTBD10,
COQ2,
POLDIP3,
EIF3K,
GEMIN6,
MMP28,
NMD3,
NLN,
FAM160B1,
SLC30A6,
MAGEE1,
NGLY1,
KCNT1,
ZKSCAN7,
PRMT8,
APH1A,
LXN,
FAM20C,
NUP107,
SLC12A5,
NDRG2,
MCOLN1,
SAGE1,
HAMP,
NGB,
WDR41,
RMDN3,
MTPAP,
COP1,
WIPI1,
XRN1,
P2RY12,
DCUN1D1,
IL23A,
SIRT6,
BCL11B,
IGF2-AS,
ACD,
CUEDC2,
BSCL2,
AATF,
WNT3A,
CAMTA1,
HCA1,
NUP205,
ATG4B,
MLC1,
PLCB1,
ALS2CL,
MGRN1,
TICAM1,
BICD2,
SPDYA,
HNRNPA3,
MED19,
FLCN,
SIRT5,
WDTC1,
MIF-AS1,
TAAR6,
MYH15,
P2RX2,
GADL1,
TGM6,
ERCC6L2,
KMT5A,
ATG14,
CCL4L1,
AAK1,
MGLL,
MIRLET7B,
PDAP1,
MIR126,
PARK7,
JPH3,
TTBK2,
FGF21,
GLCE,
GRIN3B,
NT5C3B,
CARD16,
AZIN2,
L3MBTL1,
OSBPL3,
EGLN3,
SYT9,
DNER,
NOC2L,
MTDH,
MCU,
SPAG8,
ANKRD2,
THEM4,
PANX1,
ZFYVE27,
TFIP11,
PPIL2,
SLC7A11,
PPP1R15A,
TPH2,
CD2AP,
JDP2,
PDSS1,
DDX58,
PPARGC1B,
PADI4,
TRIM69,
CABIN1,
SMCR8,
A1BG,
SUMO2,
GDF15,
GHR,
GJB1,
GCLM,
GLUL,
CXCR3,
GPX7,
GRIA3,
GRIA4,
GRIK1,
GRIN2A,
GRM3,
CXCL1,
GSK3B,
HADHA,
HDAC2,
HEXA,
HK1,
HLA-B,
MNX1,
HLA-DRB1,
HLA-DRB5,
HLA-F,
GJA1,
GFRA1,
ADAMTS3,
GEM,
ESR1,
ESR2,
ETS2,
EZH2,
F9,
PTK2B,
FGF1,
FGF13,
FKBP4,
FKBP5,
FMO3,
AFF2,
FPR2,
FRAXE,
FTH1,
FTL,
FZD2,
GBA,
GBAP1,
GC,
GCG,
HMOX2,
HNMT,
HNRNPK,
HP,
ITGB2,
ITPR1,
ITPR2,
ITPR3,
JAG2,
JAK3,
KCNJ8,
KCNJ11,
KCNK2,
KIF5B,
KIR3DL1,
LAMC1,
LGALS2,
LGALS4,
LIF,
FADS3,
LTBR,
LUM,
SH2D1A,
MARCKS,
MAP1B,
ISG20,
IRF3,
IRF1,
IFRD1,
HPGD,
AGFG1,
HES1,
HSPA8,
HSPB2,
DNAJB1,
HTC2,
ID2,
IFNGR1,
IGFBP5,
INPP5B,
IGFBP7,
IL1A,
IL2,
IL2RA,
IL13,
IL15,
IL17A,
IL18,
CXCL10,
EREG,
EPHB1,
ENG,
CD36,
BAG1,
BAX,
BBS2,
CCND1,
BMP4,
BNIP1,
BNIP3L,
BRCA1,
CACNA1A,
CACNA1S,
CALB1,
CALB2,
CALR,
CAMK4,
CAPG,
CAPN1,
CAPN2,
CASR,
CBR1,
CBS,
CD14,
ATP7A,
ATP5F1A,
ARG1,
ADH5,
AOC1,
ACAT2,
ACHE,
ACP3,
ACTA1,
ACTN3,
ACY1,
ADARB2,
ADCYAP1R1,
JAG1,
FAS,
AHR,
AK4,
ALOX5,
ALOX15,
AMPH,
ANGPT1,
APCS,
APOA1,
APOB,
CD34,
CD40,
ELAVL4,
CD59,
CTSL,
CYP1A1,
CYP1A2,
CYP2D6,
CYP19A1,
ACE,
DCX,
DDIT3,
DDX3X,
DHFR,
DLD,
DMD,
DYNC1H1,
DNMT3A,
DPYD,
DPYSL2,
EFNA5,
EFNB1,
CELSR3,
EGR1,
ELAVL1,
CTSD,
CSNK1E,
CSNK1D,
TBCB,
CD68,
CDK2,
CDK9,
CDKN2A,
CDKN2D,
CEBPD,
CTSC,
CEACAM4,
CHRNG,
ABCC2,
CRYM,
CNR1,
CNTFR,
COL4A2,
COL11A2,
COL19A1,
CORD1,
MAP3K8,
COX8A,
CREB1,
MB,
MBP,
MC4R,
RNF112,
TAT,
TGFB2,
TIMP1,
TIMP2,
TIMP3,
CLDN5,
TP73,
TPO,
NR2C2,
TRN-GTT2-1,
DNAJC7,
UBC,
UBE2H,
UCP1,
UCP3,
SCGB1A1,
UGCG,
XDH,
XPO1,
XRCC1,
XRCC5,
MAP3K7,
TACR1,
TAC1,
SOAT1,
SHBG,
SHH,
SI,
SLC1A3,
SLC8A3,
SLC12A2,
SLC12A4,
SUMO3,
SERPINA3,
SOD3,
SYP,
SOX5,
SOX10,
SPP1,
SREBF1,
SST,
SULT1E1,
STXBP1,
SUPT4H1,
ABCC8,
YWHAZ,
TUBA1A,
SEL1L,
CXCR4,
MGAM,
HSPB3,
SELENBP1,
UNC119,
INA,
P2RX6,
SLC33A1,
XPR1,
KLF4,
ZNHIT3,
CD163,
LONP1,
KL,
CHST2,
GSTO1,
MAP4K4,
EIF2AK3,
HOMER1,
PICK1,
ROCK2,
ADAMTS4,
RAB29,
BCL10,
CACNA1H,
DYNLL1,
SCG2,
PABPN1,
CDC7,
GEMIN2,
MAP4K3,
PPM1D,
FCN3,
BLZF1,
LGR5,
TNKS,
SYNJ2,
DGAT1,
TNFSF14,
TNFRSF10B,
IL18R1,
PROM1,
ASAP2,
ALDH1A2,
NR1I2,
SYNJ1,
SGK1,
CX3CL1,
DNAJB9,
P2RY2,
MYOD1,
NAP1L1,
CEACAM6,
NCAM1,
NEDD8,
NEUROG1,
NFIL3,
NGFR,
NONO,
SLC11A2,
NRF1,
NRGN,
NTF4,
NTRK1,
NTRK2,
NTRK3,
OPA1,
OSBP,
P2RX1,
P2RX3,
P2RX5,
MYO6,
MYH9,
MYH6,
MMP14,
MDH1,
MECP2,
MEF2A,
MEF2C,
MAP3K5,
MICE,
MIF,
MIP,
MMP7,
MPZ,
MYC,
MRC1,
MS,
MT1A,
MT1B,
ATP6,
NUDT1,
ND5,
MUSK,
MYBPH,
P2RY1,
PAH,
CCL18,
REG3A,
PTPRN,
PURA,
RAB1A,
RANGAP1,
RBP4,
REG1A,
UPF1,
REST,
RET,
TRIM27,
ROS1,
RPS17,
RPS25,
RPS27A,
SORT1,
S100A4,
S100A8,
S100A9,
SCD,
SCNN1A,
CCL4,
PTGER3,
PTEN,
PTAFR,
PLEC,
PAWR,
PCBP1,
PCSK2,
SERPINF1,
PFN2,
PGK1,
PHB,
SERPINA1,
PLCD1,
PLP1,
PSMA7,
PLXNA2,
POMC,
POU5F1,
PPID,
PKN1,
MAPK3,
MAPK9,
EIF2AK2,
PSAP,
H3P40
Drugs
(R)-troloxamide quinone,
None,
Allogeneic motor neuron progenitor cells derived from human embryonic stem cells
(
MOTORGRAFT
)
(R)-troloxamide quinone,
None,
Allogeneic motor neuron progenitor cells derived from human embryonic stem cells
(
MOTORGRAFT
),
Ambroxol hydrochloride,
Arimoclomol,
Autologous adipose derived mesenchymal stromal cells,
Autologous bone marrow-derived mesenchymal stromal cells secreting neurotrophic factors,
Autologous olfactory neural progenitors,
Caprine hyperimmune serum against HIV lysate,
DNA plasmid vector (pCK-HGFX7) expressing human hepatocyte growth factor,
Dexpramipexole,
Edaravone
(
RADICAVA
),
Enoxacin,
Filgrastim
(
GRASTOFIL,
BIOGRASTIM,
FILGRASTIM HEXAL,
ACCOFIL,
NEUPOGEN,
NIVESTIM,
TEVAGRASTIM,
RATIOGRASTIM,
ZARZIO
),
H-Leu-Pro-Pro-Leu-Pro-Tyr-Pro-OH,
Human culture expanded autologous mesenchymal stromal cells,
Hydrocinnamate-[Orn-Pro-dCha-Trp-Arg]acetate,
Ibudilast,
Levosimendan,
Masitinib mesilate,
Olesoxime,
Oligopeptide containing 6 amino acids (H-Phe-Ser-Arg-Tyr-Ala-Arg-OH),
Recombinant human antibody directed against misfolded human superoxide dismutase 1,
Recombinant human cerebral dopamine neurotrophic factor (CDNF),
Recombinant human vascular endothelial growth factor,
Recombinant humanised monoclonal antibody to human Nogo-A protein of the IgG1/kappa class,
Reldesemtiv,
Riluzole
(
RILUTEK
),
S[+] apomorphine,
Sarsasapogenin,
Smilagenin,
Sodium chlorite,
Sodium phenylbutyrate, tauroursodeoxycholic acid,
Synthetic ribonucleic acid oligonucleotide directed against superoxide dismutase 1 (SOD-1) messenger ribonucleic acid,
Talampanel,
Tauroursodeoxycholic acid (TUDCA),
Tirasemtiv,
Xaliproden hydrochloride,
adeno-associated viral vector serotype 9 encoding miRNA against human superoxide dismutase 1
Registered!
Summary
The purpose of this overview is to increase the awareness of clinicians regarding genetic causes of amyotrophic lateral sclerosis (ALS) and related genetic counseling issues.
The following are the goals of this overview:
Goal 1.
Describe the clinical characteristics of ALS.
Goal 2.
Review genetic causes of ALS.
Goal 3.
Provide an evaluation strategy to identify the genetic cause of ALS in a proband (when possible).
Goal 4.
Inform genetic counseling of family members of an individual with ALS.
Goal 5.
Provide a high-level view of management of ALS.