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Report for Clinical Trial NCT02512627

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Evolving Methods to Combine Cognitive and Physical Training for Individuals With Mild Cognitive Impairment: An Efficacy Study

This study aims to investigate and compare the intervention effects of combining exercise and cognitive training (either sequentially or simultaneously in a dual-task paradigm) in elderly with mild cognitive impairment. The investigators hypothesize that (1) both sequential and dual-task training can induce greater improvements in the outcome measures than single mode of training; (2) the improvement in cognitive functions and other outcomes may differ between the groups.

NCT02512627 Mild Cognitive Impairment
MeSH:Cognitive Dysfunction
HPO:Cognitive impairment Mental deterioration

2 Interventions

Name: Cognitive training

Description: visuospatial, attention, memory, and executive abilities
Type: Behavioral
Group Labels: 3

Cognitive training group (Cog) Dual-task training group (Dual) Sequential training group (Seq)

Name: Physical exercise

Description: endurance, balance, and mobility
Type: Behavioral
Group Labels: 3

Dual-task training group (Dual) Physical exercise group (PE) Sequential training group (Seq)


Primary Outcomes

Description: The MoCA will be used to assess general cognitive functions. It examines several cognitive domains with a total score of 30.

Measure: Change scores of Montreal Cognitive Assessment (MoCA)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The Stroop test will be used to assess the processing speed, inhibition, set-shifting, and selective attention abilities. The participants will be tested under 2 conditions: congruent and incongruent conditions. In the congruent condition, the color ink of a word is consistent with the written color name; while the color ink differs from the written color name under the incongruent condition.

Measure: Change scores of Stroop test

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The dual-task tests will be assessed to determine the ability for an individual to perform 2 tasks simultaneously. The investigators will assess the dual-task performance during walking and performing box and block test. The results of the dual-task tests will provide information regarding to whether the 2 tasks compete for the same class of neural resources or one of the tasks can be carried out automatically.

Measure: Change scores of Dual-task test

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The TUG test will be used to assess the mobility and dynamic balance ability. The participants will be required to stand up from a chair, walk 3 meters, turn around, then walk back to the chair, and sit down. The time to complete the TUG test has been shown to be a good indicator to detect potential fallers and frail elderly (Podsiadlo & Richardson, 1991). The test-retest reliability of TUG on individuals with cognitive impairment was excellent (Blankevoort, van Heuvelen, & Scherder, 2013).

Measure: Change scores of Timed up and go (TUG) test

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Secondary Outcomes

Description: Verbal fluency tests will be used to evaluate the semantic memory of the participants. The participants will be instructed to say as many words as possible from a given category (i.e., fruit or animal) in 1 minute. The validity, reliability, and normative performance of verbal fluency tests have been well-established (Harrison, Buxton, Husain, & Wise, 2000).

Measure: Change scores of the Verbal Fluency Test

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: Useful field of view (UFOV) is the visual area over which useful information could be obtained at a quick glance without eye or head movements. This UFOV will be assessed with the BrainHQ program. The UFOV will assess the abilities of visuomotor processing speed, divided attention, and selective attention (Ball, Edwards, & Ross, 2007).

Measure: Change scores of the Useful Field of View (UFOV)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The 30 second chair stand test (CST) will be assessed to indicate the strength and endurance level of the lower extremities. The participants will be asked to stand up from a standardized chair and then sit down as many times as possible within 30 seconds. The feasibility and reliability of using CST in people with cognitive impairment have been established to be good (Blankevoort et al., 2013).

Measure: Change scores of the 30 second chair stand test (CST)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The Chinese version of the International Physical Activity Questionnaires (IPAQ) is an international measure for health-related physical activity. A short form of IPAQ will be used to assess changes in physical activity before and after intervention in this study. The reliability and validity of IPAQ has been established across 12 countries (Craig et al., 2003).

Measure: Change scores of the Chinese version of the International Physical Activity Questionnaires (IPAQ)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: Assess activities of daily living

Measure: Change scores of the Barthel Index (BI)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: Assess activities of daily living.

Measure: Change scores of the Lawton Instrumental Activities of Daily Living Scale

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: Assess activities of daily living.

Measure: Change scores of the Disability Assessment for Dementia (DAD)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The Chinese version of QoLAD will be used.

Measure: Change scores of the Quality of Life in Alzheimer's Disease Instrument (QoLAD)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The Chinese version of CBI will be used.

Measure: Change scores of the Caregiver Burden Inventory (CBI)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The Chinese version of short form GDS will be used.

Measure: Change scores of the Geriatric Depression Scale (GDS)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The CIQ measures items relevant to home integration, social integration, and productive activities.

Measure: Change scores of the Community Integration Questionnaire (CIQ)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The actigraphy will be placed on the waist for a 3-day period immediately before and after the intervention. The participants will wear the actigraphy during all daily activities except for those that involve water (i.e., showering or swimming).

Measure: Change scores of the ActiGraph GX3 accelerometers Change scores of the ActiGraph

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The participant will be seated upright in a chair with back support, the knee will be placed in 90-degree flexion and the evaluator will stabilize the thing to eliminate synergistic movements. Participants will be asked to perform a maximal isometric contraction of knee flexion and extension with both lower extremities. The investigators will record the mean value of 3 attempts.

Measure: Change scores of evaluating isometric knee flexors and extensors muscle strength

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The participant is seated, with the elbow at 90-degree flexion. The investigators will record the mean value of 3 attempts.

Measure: Change scores of using hand dynamometer to measure grip strength of both hand

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The investigators will use the WMS-III subtests, including Faces Recognition (score range 0-48), Verbal Paired Associates (score range 0-32), Word Lists (0-48), and Spatial Span (0-32) to assess the immediate, delayed, and working memory tests. Higher scores indicated better performance for each subtest. The raw score of each subtest will also be transferred to standardized Z scores and summed to represent an index of general memory function.

Measure: Change scores of Wechsler Memory Scale - Third Edition (WMS-III)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: The WAIS-III includes tests that evaluate cognitive functions in verbal comprehension, working memory, perceptual organization, and processing speed. The subtests that the investigators will use are the Digit Symbol-Coding (scores range 0-133) and Matrix Reasoning tests (0-26). The raw score of each subtest will also be transferred to standardized Z scores and summed to represent an index of general cognitive function.

Measure: Change scores of Wechsler Adult Intelligence Scale - Third Edition (WAIS-III)

Time: baseline, posttest (an expected average of 3 months), follow-up (up to 9 months)

Description: Saliva samples will be collected at baseline to determine the Brain-Derived Neurotrophic Factor (BDNF) val66met genotype.

Measure: BDNF val66met genotype

Time: baseline

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 V66M

The raw score of each subtest will also be transferred to standardized Z scores and summed to represent an index of general cognitive function.. BDNF val66met genotype. --- val66met ---

Saliva samples will be collected at baseline to determine the Brain-Derived Neurotrophic Factor (BDNF) val66met genotype.. Inclusion Criteria: 1. able to follow instruction, 2. clinical dementia rating (CDR) = 0.5 or 1, 3. self- or informant-reported memory or cognitive complaint, and 4. able to perform activities of daily living (Barthel Index ≥ 70). --- 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