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Report for Clinical Trial NCT03621540

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Augmentation of Working Memory Training With Transcranial Direct Current Stimulation (tDCS) in Patients With Schizophrenia

Cognitive impairment is a core symptom of schizophrenia and is in a large part responsible for the poor psychosocial outcome of the disorder. The use of non-invasive brain stimulation techniques as a therapeutic option is just commencing for neuropsychiatric patients. Concerning healthy subjects the investigators have previously shown that anodal tDCS to the right dorsolateral prefrontal cortex (DLPFC) parallel to working memory training can sustainingly enhance performance in a spatial n-back task. Additionally, first translational experiments regarding the use of anodal tDCS to improve working memory (WM) in patients with schizophrenia rendered promising results. On those grounds, the investigators now test the hypothesis that anodal tDCS to the right DLPFC can augment working memory training in patients with schizophrenia.

NCT03621540 Schizophrenia Cognitive Deficits
MeSH:Schizophrenia Cognition Disorders Cognitive Dysfunction
HPO:Cognitive impairment Mental deterioration Schizophrenia

3 Interventions

Name: active tDCS

Description: Using the NeuroConn Plus tDCS device, 2 mA anodal tDCS will be applied to the right dorsolateral prefrontal cortex (F4). 15 s fade in and fade out. Total stimulation time of 1365 s. Cathode over contralateral deltoid muscle.
Type: Device
Group Labels: 1

Verum arm

Name: sham tDCS

Description: Sham mode of the NeuroConn Plus tDCS device with 2 mA stimulation for 45 s at the beginning. Anode over right dorsolateral prefrontal cortex (F4), Cathode over contralateral deltoid muscle. After that, only continuous impedance checking is performed.
Type: Device
Group Labels: 1

Sham arm

Name: Adaptive working memory training

Description: Adaptive spatial n-back training.
Type: Behavioral
Group Labels: 2

Sham arm Verum arm


Primary Outcomes

Description: Use of d' and response time as dependent variables. Based on signal detection theory, the discriminability index d' (d-prime) is calculated by using the formula d' = Z(hit rate) − Z(false alarm rate).

Measure: Change (post training - pre training) in working memory task performance (1-,2-,3-back).

Time: Pre Training: 3-4 days before training start. Post Training: 3-4 days after completion of working memory training.

Secondary Outcomes

Description: Trail Making Test (TMT) A and B. Results in seconds will be normalized by age and education adjusted standard values. Slower processing time indicates less cognitive flexibility and processing speed.

Measure: Change (post training - pre training) in cognitive flexibility and processing speed.

Time: Pre Training: 3-4 days before training start. Post Training: 3-4 days after completion of training. And changes in follow-up sessions: 4 and 12 weeks after completion of working memory training.

Description: Trail Making Test (TMT) A and B. Results in seconds will be normalized by age and education adjusted standard values. Slower processing time indicates less cognitive flexibilty and processing speed.

Measure: Change (follow-up - pre training) in cognitive flexibility and processing speed.

Time: Pre Training: 3-4 days before training start. Follow-up sessions: 4 and 12 weeks after completion of working memory training.

Description: Measure of different cognitive domains with the Brief Assessment of Cognition in Schizophrenia (BACS). Subscales (Verbal Memory, Working Memory, Motor Function, Verbal Fluency, Speed of Processing, Executive Function) and composite score. Taking age and gender into account, individual test scores are averaged to standardized scores (z-score) . Higher scores indicate better task performance.

Measure: Change (post training - pre training) in cognition.

Time: Pre Training: 3-4 days before training start. Post Training: 3-4 days after completion of training. And changes in follow-up sessions: 4 and 12 weeks after completion of working memory training.

Description: Measure of different cognitive domains with the Brief Assessment of Cognition in Schizophrenia (BACS). Subscales (Verbal Memory, Working Memory, Motor Function, Verbal Fluency, Speed of Processing, Executive Function) and composite score. Taking age and gender into account, individual test scores are averaged to standardized scores (z-score) . Higher scores indicate better task performance.

Measure: Change (follow-up - pre training) in cognition.

Time: Pre Training: 3-4 days before training start. Follow-up sessions: 4 and 12 weeks after completion of working memory training.

Description: Use of the d' and response time as dependent variables. Based on signal detection theory, the discriminability index d' (d-prime) is calculated by using the formula d' = Z(hit rate) − Z(false alarm rate).

Measure: Change (follow-up - pre training) in working memory task performance (1-,2-,3-back).

Time: Pre Training: 3-4 days before training start. Follow up: 4 and 12 weeks after completion of working memory training.

Description: Calgary Depression Scale for Schizophrenia (CDSS). Maximum score is 27. Higher scores indicate a higher level of depression.

Measure: Change (post training - pre training) in depressive symptoms.

Time: Pre Training: 3-4 days before training start. Post Training: 3-4 days after completion of training.

Description: Calgary Depression Scale for Schizophrenia (CDSS). Maximum score is 27. Higher scores indicate a higher level of depression.

Measure: Change (follow-up - pre training) in depressive symptoms.

Time: Pre Training: 3-4 days before training start. Follow-up sessions: 4 and 12 weeks after completion of working memory training.

Description: Positive and Negative Syndrome Scale (PANSS). The PANSS measures symptom severity on a positive, a negative and a general psychopathology scale. Higher scores indicate more pronounced symptom severity. The PANSS will be analyzed in subscales and as a summed total score.

Measure: Change (post training - pre training) in psychopathology.

Time: Pre Training: 3-4 days before training start. Post Training: 3-4 days after completion of training. And changes in follow-up sessions: 4 and 12 weeks after completion of working memory training.

Description: Positive and Negative Syndrome Scale (PANSS). The PANSS measures symptom severity on a positive, a negative and a general psychopathology scale. Higher scores indicate more pronounced symptom severity. The PANSS will be analyzed in subscales and as a summed total score.

Measure: Change (follow-up - pre training) in psychopathology.

Time: Pre Training: 3-4 days before training start. Follow-up sessions: 4 and 12 weeks after completion of working memory training.

Description: Scale for the Assessment of Negative Symptoms (SANS). The total score is calculated by addition of 5 subscales with a maximum score of 25. A higher score indicates more pronounced negative symptoms.

Measure: Change (post training - pre training) in negative symptoms

Time: Pre Training: 3-4 days before training start. Post Training: 3-4 days after completion of training.

Description: Scale for the Assessment of Negative Symptoms (SANS). The total score is calculated by addition of 5 subscales with a maximum score of 25. A higher score indicates more pronounced negative symptoms.

Measure: Change (follow-up - pre training) in negative symptoms

Time: Pre Training: 3-4 days before training start. And changes in follow-up sessions: 4 and 12 weeks after completion of working memory training.

Description: World Health Organization Quality of Life Questionnaire, short version (WHOQOL-BREF). Four major domains are assessed: physical, psychological, social relationships and environment. It consists of 26 items and a maximum score of 130. Higher scores indicate a higher quality of life.

Measure: Change (post training - pre training) in quality of life.

Time: Pre Training: 3-4 days before training start. Post Training: 3-4 days after completion of training.

Description: World Health Organization Quality of Life Questionnaire, short version (WHOQOL-BREF). Four major domains are assessed: physical, psychological, social relationships and environment. It consists of 26 items and a maximum score of 130. Higher scores indicate a higher quality of life

Measure: Change (follow-up - pre training) in quality of life.

Time: Pre Training: 3-4 days before training start. Post Training: 3-4 days after completion of training. And changes in follow-up sessions: 4 and 12 weeks after completion of working memory training.

Description: Subjective Scale to Investigate Cognition in Schizophrenia (SSTICS).Scale with 21 items, maximum score of 84, higher scores indicate more subjective cognitive impairment.

Measure: Change (post training - pre training) in subjective cognitive capacity.

Time: Pre Training: 3-4 days before training start. Post Training: 3-4 days after completion of training.

Description: Subjective Scale to Investigate Cognition in Schizophrenia (SSTICS).Scale with 21 items, maximum score of 84, higher scores indicate more subjective cognitive impairment.

Measure: Change (follow-up - pre training) in subjective cognitive capacity.

Time: Pre Training: 3-4 days before training start. Follow-up sessions: 4 and 12 weeks after completion of working memory training.

Description: resting state connectivity, event-related potentials (ERP), 32-channel EEG

Measure: Differences in EEG signatures between interventional arms.

Time: Pre Training: 3-4 days before training start. Post Training: 3-4 days after completion of training

Other Outcomes

Description: Examination of gene polymorphisms (BDNF Val66Met, COMT Val108Met158; CACNA1C) via polymerase chain reaction (PCR).

Measure: Influence of genetic constitution on tDCS effectiveness

Time: Pre Training: 3-4 days before training start

Description: Age in years; demographic questionnaire

Measure: Influence of age on tDCS effectiveness

Time: Pre Training: 3-4 days before training start

Description: Sex: male, female, not specified; self report questionnaire

Measure: Influence of sex on tDCS effectiveness

Time: Pre Training: 3-4 days before training start

Purpose: Basic Science

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 V66M

Examination of gene polymorphisms (BDNF Val66Met, COMT Val108Met158; CACNA1C) via polymerase chain reaction (PCR).. Influence of age on tDCS effectiveness. --- Val66Met ---



HPO Nodes


HPO:
HP:0100543: Cognitive impairment
Genes 862
SMC1A OCRL FUS PLEKHG4 CTC1 SPG11 FA2H CTDP1 SLC18A2 PORCN TRAIP SYNJ1 DNAJC6 ERCC4 COL1A1 C9ORF72 UBAP1 PTS TRNS2 NUP133 INSR APOL2 SPTBN2 TWNK RRM2B GBA KCNT1 KCNB1 SPART APOE PAH CNTNAP2 TRNL1 CLN6 GRN APOE PRNP GM2A PDCD10 GLUD2 GCDH GBA DISC2 ATP6 ERAP1 RPS20 MAPT UQCRC2 CSF1R SUFU C9ORF72 PEX11B GMPPB CLMP SCN2A ND1 SCN1A RBBP8 NDUFA6 MEN1 PRKCG FKRP COX2 GABRD AASS TRNS1 SIM1 MAPT GJC2 SDCCAG8 VAMP1 ATXN3 LRRK2 SDHA CP GNE HLA-DQB1 ND1 PRNP SGPL1 DNM1 CPLX1 NDUFB8 LAMA1 ATXN3 MLH1 POLG DARS2 MEFV TRNK TIMM8A ALG12 DNMT1 P2RY11 TTR ACSF3 TRNS1 SMC3 TRNS2 KRT6B UBQLN2 POLG2 TSC1 HNRNPA1 AP5Z1 SDHC MPDU1 C1R VPS13A TNFSF4 CHMP2B KRT16 TYROBP BBS12 SQSTM1 HCN1 SDHB SDHB ATP13A2 CHCHD10 DMD MAPT GCH1 PSEN1 PNPLA6 COL5A2 PRRT2 IDUA TMEM240 TBCK SYN2 ITM2B C9ORF72 CHI3L1 MAPT GRID2 PSAP COQ2 SZT2 CLN8 LIPN ATP13A2 GNAS VPS13A IFT140 TREM2 AFG3L2 SCN9A TREM2 MMACHC SPG7 NPC1 CTNS SULT2B1 PDGFRB TSFM PEX5 PLAU AP2M1 SLC25A13 SNORD118 NDUFS2 CYP2U1 HCN1 MAG SLC6A1 YWHAG PTEN ND5 PEX3 KCNQ2 TREX1 PEX10 FTL DNAJC6 UBA5 HGSNAT NUS1 FGF14 CAMTA1 ALDH18A1 TMEM106B B3GALNT2 MARS2 TWNK SLC2A1 ASAH1 GPC4 TARDBP FKTN ROBO3 SYNJ1 KLLN DSTYK MAPT PANK2 FGF14 STXBP1 SCN8A HNRNPA2B1 MAPT VCP PSEN1 ATP13A2 CYFIP2 POMK LAMP2 SPR ND6 METTL23 GRN PEX1 ATP7B ALG2 GRN ATP13A2 ATM SOST STUB1 CYP27A1 TRNC GABRA2 TRNF PRDM8 ACTL6B APOL4 CTSD SLC18A2 OSGEP GRID2 TRAK1 CLTC ATXN10 POLG PCDH19 COASY PSEN1 NDUFAF3 MECP2 DNMT1 ADD3 SRCAP LMNB1 SCO2 CHRM3 PSAP KIF5A APP TUBA4A HLA-DRB1 UCHL1 SPG11 ATXN2 SCN8A ITGA7 GABRB3 PPP2R2B CHD2 EPRS1 MAPT PEX16 COL18A1 TYROBP IKBKG CSF1R GSN SDHA PEX14 TP53 WFS1 SNCB SCN9A RRM2B RBM12 SLC2A1 C19ORF12 CHMP2B RBM28 SNCA GABRB2 AP5Z1 TBC1D24 ATP1A2 SMARCB1 SCN2A ERCC8 HTRA2 QDPR GBA2 SEC23B RIN2 PLA2G6 STARD7 DARS2 NKX6-2 CP MEOX1 AARS2 HLA-B VCP HTRA1 MAPT MATR3 HTT PDE10A GDNF TUBB4A PRICKLE1 ZNF365 BMPR1A UBAC2 GALC ADA2 ST3GAL5 TSC2 RNASEH1 SQSTM1 ADGRV1 CENPJ IL23R EDN3 PMS1 NAGS KCNA2 MTFMT RMRP ATXN1 NAGA DNAJC13 MSH6 TRNQ AMN HTT TOMM40 TTC8 SEC61A1 PIK3CA KCNQ3 ATP6V1A KCNJ11 TRNP EIF2B3 SDHAF1 ROGDI FBXO7 APP EPCAM ALOXE3 ABCD1 KRAS GBA RNASEH1 POLG FA2H COASY AKT1 APTX RNF216 CLN6 LTBP4 GNAS CLN5 TBK1 POMT2 PPP3CA BBIP1 MYORG PDGFB PRKAR1A GBE1 B3GALNT2 DCC TTPA TRNE PCNT TRNW EPM2A FA2H SYNGAP1 PPP2R2B TREX1 KMT2A TRNH OPA1 MFSD8 ATXN7 PINK1 PSEN1 CTSF GDF6 AP3B2 CCDC78 ATXN3 CENPE FMR1 CEP152 ITM2B TIMM8A HIBCH BBS5 TUBB2B FAN1 SLC13A5 NFIA WWOX FAS GABRG2 UGT1A1 SDHAF1 PEX16 ATP6 VAMP1 PDGFRB ATRIP ATP6V0A2 GNAS PARS2 NTRK2 KCND3 SCN2A SCN1A BDNF DCAF17 NUP107 MLH3 SPG11 OPA3 STX1B ABCA7 VCP VCP POLG ARSA SCN1A A2M ARL6IP6 PRKAR1B TBP NECAP1 MTHFR CHMP2B SMC1A LAGE3 ERCC3 TARDBP SPG7 PDE11A PLA2G6 PEX13 POMT2 HTT ND5 HEXB KRT86 PEX6 MAPT PDGFB FGF12 POMGNT1 STXBP1 JPH3 NOTCH3 MAPK10 SDHD XRCC4 APP COL4A1 ABCC8 IL12A MCOLN1 RAB27A TSC1 ERCC6 COX3 PHOX2B ADH1C PEX12 BSCL2 SLC25A4 FMR1 TRNS1 UCP2 IRAK1 CTSH VPS13C TBK1 KCNA2 KCNQ3 C12ORF65 IL12A-AS1 CSTB WFS1 HSD17B10 MYH3 FTL VCP EIF2B4 DOLK PEX2 CEP120 TTC19 SCN1B BRAF CTSK CYTB PDGFRB ZFYVE26 CSTB HTR2A NIPAL4 JPH3 C12ORF65 PSEN2 GDAP2 SEMA4A STUB1 TK2 PNKP EPM2A C9ORF72 APP PODXL CFH C19ORF12 HNRNPA2B1 CACNA1A SERPINI1 CFAP43 CLCF1 CYP2U1 PRNP DGUOK CTNS SNCA TRNQ FGFR3 VPS35 C9ORF72 SNCA GABRA5 ATXN3 CHMP2B PTPN22 ATN1 PNKP LRRK2 PARK7 FAS ASAH1 CACNA1G DSG4 FGD1 SCN1A GIGYF2 KRT17 APP CHD2 ATP13A2 COX2 ATR IBA57 PEX19 TRNH ATN1 KMT2B SLC25A4 SLC2A3 ACTB GLA CST3 ATG5 ERCC2 C9ORF72 SPG21 STAT4 GRN SPAST SPG21 TRNL1 GBA WDR73 MOG AUH SLC5A7 ABCA12 GBA RNR1 LAMA2 ATXN2 TGFBR2 POMT1 MYO1H TSC2 DNM1 TRPM7 GBE1 HFE SNCA TBK1 COX1 NDP SQSTM1 DAOA SUMF1 ND4 XPA GLB1 TRNQ CNKSR2 ATXN1 C1QA ERCC5 UBTF ECM1 MFN2 PSAP USF3 COX1 XPC ARV1 PDGFB ABCA5 TLR3 TRNF CCR1 EIF4G1 ALG9 HNF1A PANK2 AARS1 PSEN1 GTPBP3 HNF4A PRDM8 COMT PSEN1 ND6 NOTCH3 DNAJC3 ALDH18A1 DNMT1 HLA-DQB1 PPT1 RAB39B CUX2 SDHD PSEN2 MBTPS2 KRT83 HEXA SNCAIP ATXN7 RTN4R KLRC4 SUMF1 REEP2 SQSTM1 TMEM106B GM2A PEX26 PRKN TK2 CLN8 POLG PRDX1 CISD2 GRN TREM2 NRAS SNCA CHMP2B ND5 SDR9C7 SLC1A2 RBM28 MTOR TBP TWNK TRNF WDR4 KATNB1 MAPT NPHP1 PRNP XPR1 MTO1 GDF5 NOS3 CYP7B1 DNM1L HEPACAM PRKCG GMPPB XPA SNCA SLC20A2 ERF PRNP TRNW PRNP TWNK TMEM240 ARSA GJC2 BBS10 SURF1 MAPT GDF3 APP ADA2 TREM2 DGUOK ATP1A3 ATXN2 FBN1 POLG AIFM1 MAPT DCTN1 TMEM106B HTRA1 GABRA1 LARGE1 ERCC3 KRIT1 NBN PLA2G6 PRKRA EIF2B2 APP SCN1B WDR45 BRAF SLC30A9 MATR3 HCRT AFG3L2 ERCC2 PGM3 ABCA7 PANK2 TTC37 C12ORF65 GBA2 C4A NR4A2 WDR45 NHLRC1 PLK4 VCP ERCC4 ALG13 GNAS TRNK EEF1A2 TIMMDC1 CRLF1 SLC25A15 FLNA PRNP KRT6A CLN3 VPS37A POLG COL3A1 CACNA1B KRT81 KCNQ2 PRNP GRIN2D DDB2 TLR4 PLP1 TRNV CYP4F22 TINF2 PIK3CA NPC2 BSCL2 ATP6V1A CERS1 IL10 EIF2B5 ALOX12B TREM2 VPS13C PMS2 GBA EIF2B1 HSD17B4 DNAJC5 MAPT STAT4 GBA COX3 RRM2B PLAA GABRG2 TYMP MYD88 COL5A1 MPO LZTFL1 SLC7A7 CFAP43 LRRK2 ITPR1 CFHR1 GJB6 DHDDS ARSA NAGLU CENPJ TRNS2 SPAST RNF216 GJB2 CFHR3 TGM1 IRF6 TBP RRM2B KCNC1 GABRG2 ATXN8OS PSEN1 TPRKB CHRNG SCN8A PINK1 PRNP SLC13A5 SCN9A ADAMTSL4 SPP1 SCARB2 SORL1 DRD3 CUBN NAGS ROGDI SPTBN2 MSH2 NOTCH2NLC CCM2 KCTD7 MAOA PANK2 TP53RK SCN3A NF2 SYNJ1 NHLRC1 CHCHD10 TRNL1 ITPR1 ATP1A3 UBA1 SDHD ATP6V1E1 TRNK DCTN1
Protein Mutations 0
SNP 0
HP:0001268: Mental deterioration
Genes 461
SMC1A FUS PDE11A PLEKHG4 CTC1 SPG11 FA2H PLA2G6 SYNJ1 C9ORF72 HTT UBAP1 ND5 HEXB PTS MAPT TRNS2 PDGFB APOL2 TWNK GBA FGF12 JPH3 KCNB1 NOTCH3 APOE PAH MAPK10 CNTNAP2 APP COL4A1 ABCC8 MCOLN1 RAB27A CLN6 ERCC6 COX3 GRN APOE ADH1C BSCL2 FMR1 TRNS1 UCP2 PRNP VPS13C GLUD2 TBK1 GBA KCNA2 DISC2 CSTB WFS1 ATP6 HSD17B10 MAPT FTL VCP CSF1R C9ORF72 CYTB NDUFA6 PDGFRB PRKCG ZFYVE26 CSTB HTR2A JPH3 PSEN2 GDAP2 MAPT EPM2A C9ORF72 APP PODXL LRRK2 C19ORF12 HNRNPA2B1 CACNA1A SERPINI1 CP CFAP43 PRNP HLA-DQB1 SNCA ND1 SGPL1 DNM1 CPLX1 VPS35 NDUFB8 C9ORF72 ATXN3 SNCA GABRA5 CHMP2B TIMM8A ATN1 LRRK2 PARK7 DNMT1 TTR ASAH1 SCN1A GIGYF2 APP CHD2 ATP13A2 COX2 UBQLN2 HNRNPA1 ATN1 VPS13A CHMP2B TYROBP SLC2A3 ACTB SQSTM1 CST3 HCN1 ERCC2 SDHB ATP13A2 CHCHD10 SPG21 GRN MAPT GCH1 PSEN1 PNPLA6 SPG21 IDUA TRNL1 SYN2 ITM2B GBA C9ORF72 CHI3L1 MAPT PSAP GBA SZT2 CLN8 ATXN2 TREM2 TREM2 MMACHC NPC1 CTNS PDGFRB PLAU AP2M1 DNM1 TRPM7 HFE SNORD118 SNCA NDUFS2 TBK1 NDP SQSTM1 DAOA SLC6A1 YWHAG SUMF1 TREX1 GLB1 FTL DNAJC6 TRNQ UBA5 CNKSR2 HGSNAT UBTF NUS1 MFN2 PSAP ALDH18A1 COX1 TMEM106B ARV1 ASAH1 TARDBP TLR3 SYNJ1 MAPT STXBP1 EIF4G1 HNRNPA2B1 HNF1A MAPT VCP PSEN1 PANK2 ATP13A2 CYFIP2 AARS1 PSEN1 HNF4A PRDM8 COMT ND6 PSEN1 GRN NOTCH3 ALDH18A1 ATP7B DNMT1 GRN ATP13A2 PPT1 RAB39B CYP27A1 TRNC CUX2 GABRA2 SDHD PRDM8 ACTL6B PSEN2 APOL4 MBTPS2 CTSD TRAK1 HEXA CLTC ATXN10 SNCAIP ATXN7 RTN4R POLG SUMF1 SQSTM1 TMEM106B GM2A PSEN1 NDUFAF3 MECP2 PRKN TK2 CLN8 DNMT1 POLG PRDX1 CISD2 GRN TREM2 LMNB1 NRAS SNCA SCO2 PSAP CHMP2B APP TUBA4A SLC1A2 RBM28 UCHL1 ATXN2 TBP TRNF MAPT GABRB3 PPP2R2B PRNP XPR1 CHD2 MAPT NOS3 COL18A1 DNM1L HEPACAM XPA TYROBP SNCA SLC20A2 CSF1R PRNP TRNW PRNP SDHA WFS1 SNCB SCN9A RRM2B ARSA SURF1 MAPT C19ORF12 CHMP2B APP RBM28 SNCA ADA2 GABRB2 AP5Z1 TBC1D24 ATP1A2 TREM2 DGUOK ATXN2 MAPT ERCC8 HTRA2 QDPR DCTN1 TMEM106B HTRA1 GBA2 NBN PLA2G6 PLA2G6 DARS2 CP APP AARS2 VCP WDR45 MATR3 HTRA1 MAPT MATR3 HTT PDE10A PANK2 TUBB4A GBA2 PRICKLE1 NR4A2 GALC ADA2 WDR45 NHLRC1 ST3GAL5 RNASEH1 SQSTM1 VCP ERCC4 KCNA2 DNAJC13 TRNK AMN EEF1A2 TIMMDC1 HTT TOMM40 PRNP ATP6V1A CLN3 KCNJ11 CACNA1B SDHAF1 PRNP GRIN2D ROGDI FBXO7 APP PLP1 TRNV TINF2 NPC2 BSCL2 ABCD1 ATP6V1A GBA FA2H COASY CERS1 APTX TREM2 RNF216 CLN6 VPS13C GBA CLN5 TBK1 PPP3CA MYORG PDGFB PRKAR1A GBE1 DNAJC5 MAPT TTPA TRNE GBA RRM2B EPM2A FA2H SYNGAP1 TYMP PPP2R2B TREX1 MPO KMT2A OPA1 MFSD8 ATXN7 PINK1 PSEN1 CFAP43 LRRK2 CTSF AP3B2 DHDDS ARSA NAGLU SPAST RNF216 FMR1 ITM2B IRF6 TIMM8A TBP HIBCH RRM2B KCNC1 GABRG2 ATXN8OS PSEN1 SLC13A5 WWOX SCN8A PINK1 PRNP SLC13A5 ATP6 PDGFRB SCARB2 SORL1 DRD3 CUBN ATP6V0A2 GNAS PARS2 ROGDI NOTCH2NLC NTRK2 KCTD7 DCAF17 SPG11 SCN3A ABCA7 VCP VCP ARSA SYNJ1 NHLRC1 SCN1A CHCHD10 A2M PRKAR1B TBP NECAP1 ATP1A3 MTHFR CHMP2B ATP6V1E1 TRNK DCTN1 TARDBP
Protein Mutations 3
K56M V158M V66M