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Report for Clinical Trial NCT03206112

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Loss of Depotentiation in Focal Dystonia

Background Focal dystonia is a brain disorder. It affects a muscle or muscles in a specific part of the body. Researchers think it may be related to excessive training or practice. They want to know more about how much training might trigger focal dystonia. Objectives: To study why people develop focal dystonia. To study how brain plasticity changes with focal dystonia. Eligibility: People at least 18 years of age with focal dystonia. Healthy volunteers the same age are also needed. Design: Participants will be screened with a physical exam and questions. They may have blood and urine tests. Participants will have up to 3 testing visits. Participants will have small electrodes stuck on the skin on the hands or arms. Muscle activity will be recorded. Participants will have transcranial magnetic stimulation (TMS). A wire coil will be placed onto the scalp. A brief electrical current will pass through the coil. The current will create a magnetic field that affects brain activity. Participants may be asked to tense certain muscles or do simple actions during TMS. A nerve at the wrist will get weak electrical stimulation. The stimulation may be paired with TMS for very short times. Participants will receive repeated magnetic pulses. Participants will receive a total of 150 pulses during a 10-second period. An entire testing visit will last about 3 hours. ...

NCT03206112 Focal Dystonia Healthy Volunteers
MeSH:Dystonia Dystonic Disorders
HPO:Dystonia Focal dystonia Limb dystonia Paroxysmal dystonia Writer's cramp

3 Interventions

Name: PAS25

Description: We will record surface electromyography from the target abductor pollicis brevis muscle and adjacent first dorsal interosseous and abductor digiti minimi muscles.
Type: Other
Group Labels: 2

Focal Dystonia Healthy Volunteers

Name: PAS10

Description: We will record surface electromyography from the target abductor pollicis brevis muscle and adjacent first dorsal interosseous and abductor digiti minimi muscles. TBS is a special form of
Type: Other
Group Labels: 2

Focal Dystonia Healthy Volunteers

Name: PAS25-cTBS150

Description: We will record surface electromyography from the target abductor pollicis brevis muscle and adjacent first dorsal interosseous and abductor digiti minimi muscles.
Type: Other
Group Labels: 2

Focal Dystonia Healthy Volunteers


Primary Outcomes

Description: compare MEP amplitude in patients with that in healthy volunteers to identify whether depotentiation is weaker in focal dystonia

Measure: MEP amplitude immediately after the PAS25-cTBS150 (depotentiation) protocol

Time: throughout

Secondary Outcomes

Description: MEP amplitudes at other time points after the PAS25-cTBS150 procedure

Measure: MEP amplitudes

Time: throughout

Time Perspective: Cross-Sectional

Case-Control


There is one SNP

SNPs


1 V66M

The Val66Met single nucleotide polymorphism is related to abnormal cortical plasticity. --- Val66Met ---



HPO Nodes


HPO:
HP:0001332: Dystonia
Genes 608
NDUFS7 DLAT CTC1 FA2H SARS1 PLA2G6 RNASEH2C CACNA1B SLC18A2 FMN2 DNAJC6 DMXL2 CYTB COX3 PTS NAA10 ATP1A3 MAPT DRD2 PDGFB SLC2A1 GBA JPH3 CACNA1A PSAP PIGC MCOLN1 LIPT1 TRNL1 ATM ND4 ZC3H14 ATP1A3 GFM2 TUBB3 NKX2-1 ADH1C BSCL2 PLAA PNKD CNTNAP1 GM2A POLR3A SLC2A1 VPS13C GLUD2 UFM1 GCDH YY1 MAFB B3GALNT2 TACO1 MYF5 SURF1 GNAO1 FLI1 CYB5R3 NDST1 FTL SCP2 GNAS TRNK DCPS PRRT2 TTC19 SLC19A3 B4GALNT1 CACNA1A ND1 NEUROD2 TWIST1 PDGFRB PRKCG COX2 FBXO7 JPH3 GCH1 PIK3R5 STN1 GDAP2 GNAO1 MAPT GJC2 PNKP VAMP1 RARS1 ATXN3 PODXL LRRK2 RNASEH2A RNASET2 MARS2 SDHA NDUFS3 C19ORF12 MICU1 CP C12ORF4 ZNF142 ND3 COL6A2 ACOX1 ATP6 SNCA NKX2-1 TRNQ CKAP2L SLC30A10 TRPV4 CC2D1A PRRT2 VPS35 TRIM8 COL6A3 NDUFB8 COL6A2 ATXN3 SNCA GABRB2 ND6 HPRT1 ATXN3 TIMM8A KCNQ2 ATN1 PNKP ND5 NDUFS7 PARK7 WASHC4 ACSF3 TRNS1 NDUFAF5 GIGYF2 NDUFS2 GRIN1 AARS1 CYB5A PRRT2 UBQLN2 FARS2 PIGQ NUP62 VPS13A FBXO31 TAF1 KMT2B SLC9A6 SLC25A42 HIBCH ACTB MAT1A GNAS GAMT COL6A1 C9ORF72 SDHA WDR73 TRAPPC12 METTL23 ZC4H2 CACNA1A SUOX ATP13A2 NKX6-2 ND1 NAXD WARS2 HACE1 TGM6 FXN AP4E1 GCH1 ANO3 SPATA5 NDUFA12 NDUFAF4 ND6 ECHS1 UBTF NDUFV2 AUH ND2 COL6A3 ATP6 CHRNA2 CRADD ACTB ATXN8 TSEN2 MTFMT GRIK2 ATXN2 ATP13A2 VPS13A THAP1 AFG3L2 GBA POLR3A NPC1 TSFM ND2 ALDH6A1 CDK10 MAN1B1 STXBP1 PCCA SNORD118 SNCA NDUFS2 COX1 CYP2U1 TUBB4A SURF1 CIZ1 CKAP2L PRKN HPCA FGFR3 ND5 NDUFAF6 COQ9 COL6A1 ND4 WARS2 PTS SDHA IREB2 TREX1 PIGP MED25 FTL DNAJC6 NSUN2 PRKRA THAP1 SALL4 UBTF SUCLA2 MECR CYP27A1 PSAP CASK ALDH18A1 MMUT COX10 TSEN34 COX15 ARV1 MARS2 AFG3L2 SLC2A1 PLEKHG2 COL6A3 SLC19A3 UQCRQ PDHA1 ARX NDUFS1 SLC6A3 PET100 CARS2 EMC1 MBOAT7 COL6A3 GCH1 MAPT PANK2 MMUT TRAPPC12 KCTD17 SERAC1 TECR LMAN2L EIF4G1 TRNV CACNA1G PANK2 ATP13A2 TREX1 PMPCB COL6A1 SGCE SPR HTT NDUFV1 BCS1L ND6 DRD5 SYT1 SLC39A8 NADK2 TANGO2 EZR ATP7B TOR1A NEK9 ATP13A2 SCN4A SLC25A22 COX15 SLC6A3 NDUFA10 RSRC1 SETX TAF1 GNA11 TRNW DCAF17 KCNA1 TRNF RHOBTB2 SLC19A3 SLC2A1 TH NDUFS1 SLC18A2 DNAJC19 SNCAIP IRF2BPL HACE1 SQSTM1 TUBB4A FOXG1 SLC30A10 GM2A COASY CACNA1E PSEN1 NDUFAF3 POLR1D MECP2 PRKN AFG3L2 KIF1C ST3GAL3 SNCA SCO2 PSAP CHMP2B COLEC11 BCAP31 ND4 SETX RNASEH2B NADK2 UCHL1 NDUFA9 ATXN2 TBP B4GALNT1 DHDDS MAPT PPP2R2B GRIN2B DDC EPRS1 TAF1 SCN2A MTO1 PCDH12 YY1 FBXL4 KCNQ2 STX16 PODXL AUH SLC20A2 MRPS34 TRAPPC11 ARSA NDUFAF2 GNAO1 SLC39A14 SLC6A8 TH PNKD OFD1 IFIH1 TPI1 GNAS FOXRED1 CASR ARSA SURF1 MAPT SLC2A1 C19ORF12 TOR1A GLE1 ATP1A2 HINT1 ATP1A3 PSAP HTRA2 HTRA2 QDPR ANO3 TRAPPC9 PRRT2 RAB11B GTPBP2 PLA2G6 PRKRA PLA2G6 SIK1 STARD7 GRIK2 PCGF2 NKX6-2 ADCY5 CP MED23 AARS2 NDUFS3 WDR45 PCCB SLC30A9 POLR3B ND1 AFG3L2 SGCE ARX HSPG2 MDH2 ADCY5 PDHX ADAR TBC1D24 PNPT1 PANK2 TAF1 TUBB4A TRIT1 NR4A2 AP4S1 SYNGAP1 WDR45 COL6A1 POLR1C MECP2 SLC2A1 VPS37A NDUFS8 GCDH COL4A1 ATXN1 COQ2 KDM5B GABBR2 COQ2 NGLY1 DNAJC13 AGTPBP1 TTBK2 NDUFA13 COQ8A TRNL1 TMEM106B HTT AP4B1 EDC3 PGAP1 NDUFA9 NDUFS4 SPR SLC6A8 TGFB2 COL6A3 VPS37A ADAR DLD ALS2 SCN1B AIMP1 LINS1 SYNJ1 FBXO7 PLP1 DEGS1 NPC2 BSCL2 NDUFAF5 UBA5 SLC45A1 LIPT2 AP3D1 FA2H COASY RNASEH2B PRSS12 APTX VPS13C MYORG NHLRC2 CACNA1A PDHA1 MAPT ND5 COL12A1 TTPA TGM6 DMXL2 NDUFA12 ND4L GBA TRNW COX3 CDKL5 FA2H VPS13D AP4B1 NUP62 RNASEH2C KCNA1 TBC1D24 NDUFA4 TRNH ARX ATP1A3 ADAR MRE11 PINK1 LRRK2 CRBN TCOF1 PRRT2 NDUFA2 CLIP1 ATP6 DNAJC12 ARSA PNPT1 DNAJC6 TRNS2 COL12A1 ATXN3 TXN2 VAC14 PNPLA8 EARS2 SAMHD1 UPB1 TBC1D24 ECM1 FGFR2 TANGO2 AP4M1 KCTD17 TBC1D24 DHX30 KAT6A TIMM8A TBP ATXN8OS HIBCH RNASEH2A FRRS1L ATXN8OS HNMT MICU1 MRE11 PINK1 TUSC3 NDUFS8 PARK7 SDHAF1 HPCA CWF19L1 VAMP1 ECHS1 COL6A2 IQSEC1 GNAL ACTA1 LIPT1 GLB1 COL6A3 COL6A2 HPRT1 GNAL PANK2 GRIN1 ARX TNIK MPV17 PNKP DCAF17 ADAR SLC39A14 GRIN2B SYT1 TBCD CHN1 SURF1 VCP NDUFAF6 TPK1 ARSA SYNJ1 MMADHC TBP ATP1A3 KCNC3 SDHD FBLN1 IFIH1 ACER3
Protein Mutations 0
SNP 0