Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Watchlist
Retrieved
2019-09-22
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!
Orthner et al. (1973) reported 2 sisters with onset of ALS at 38 and 39 years of age, and death after 14 and 26 months, respectively. Weakness began in the arms and later involved the legs. Bulbar signs and symptoms followed. Autopsy showed marked loss of motor neurons. Polyglucosan bodies were found in perikarya in the cortex and cerebellum. Barz et al. (1976) reported 2 sporadic cases.