Supranuclear Palsy, Progressive, 3

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

MAPT, STX6, MOBP, EIF2AK3, SRSF2, TRA2B, SLCO1A2, TRIM11, SP1, PSPH, REG1A, SNCA, RIDA, STXBP3, MSMB, PSPN, TPO, CD8B, ASAP1, RUNX2, BPIFA2, PIK3C2G, IRF4, APOE, SLC6A3, TARDBP, LRRK2, NEFL, SOD1, CIT, C9orf72, CSF2, MAOB, GRN, LAMC2, DCTN1, STH, SMUG1, PRKN, UBB, PYCARD, NPC1, APP, TYMS, CRHR1, TH, TGM2, SLC25A38, ATXN2, GFAP, IGLON5, CST3, NPEPPS, VEGFA, RAB35, YWHAE, OGA, CXCR4, PICALM, NPC2, SNCAIP, BSN, MAP3K14, OPN1MW3, DUSP10, ARL17B, ROCK2, SCRN1, MAP4K4, NF1P1, UNC13A, DNAJB1P1, FLAD1, UBASH3B, SPECC1, FOXP2, RMDN2, ASXL1, MCIDAS, SETX, MIR132, MIR518E, GGTLC5P, GGTLC3, GGT2, OPN1MW2, CTNNBL1, SYBU, PSPC1, RMDN3, LRRC37A4P, TET2, TMEM106B, TREM2, LCMT1, PPME1, RMDN1, GGTLC4P, PSAT1, TBK1, CSDC2, LMOD1, SF3B1, MINK1, NAT1, TPI1, OPN1MW, FMR1, MTOR, FUS, GABPA, GABRG2, GBA, GGT1, EGFR, GLDC, GSTM1, NRG1, HSPA4, DNAJB1, IFNG, ERBB4, DLX1, IGFALS, CASP3, AP2A2, ANXA6, KLK3, BDNF, BNIP1, BRCA1, CBS, ACE, CDK5, CHI3L1, CLU, CRP, CTSS, CYP2D6, IGF1, IL2, TP53BP1, MAP2K4, PSEN2, PTEN, PTPRC, RAPSN, ROCK1, ATXN8OS, NAT2, PROS1, SPOCK1, SPP1, TCOF1, TGFB1, TGM1, TNF, PSEN1, PRNP, IL6, NR4A2, IRS1, MUSK, NFE2L2, NGF, NOS1, NSF, PAEP, PTPA, PAFAH1B1, PDK1, PIN1, PLAG1, PLCG2, PLXNA2, ATXN2-AS

Drugs

(2'R,3'S)-2'-hydroxy-N-carboxy-3'-amino-5'-methyl-hexanoic,N-tert-butyl ester, 13 ester 5B-20-epoxy-1B,2a,4a,7B,9a,10a,13a-heptahydroxy-4,10-diacetate-2-benzoate-(1"S)-7,9-acrolein acetal-11(15-1)-abeotaxane, Davunetide, Humanised IgG4 monoclonal antibody against extracellular tau, Methylthioninium, N-(3-(4-(3-(diisobutylamino)propyl)piperazin -1-yl)propyl)-1H-benzo[d]imidazol-2-amine disulphate, Tilavonemab, Tolfenamic acid, tideglusib

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For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 (601104).

Mapping

Using a pooling-based genomewide association study of more than 500,000 SNPs in 288 patients with PSP and 344 age- and sex-matched controls, Melquist et al. (2007) identified candidate SNPs with large differences in allelic frequency by ranking all SNPs by their probe-intensity difference between cohorts. The MAPT H1 haplotype (see 157140) was strongly detected by this approach as was a second major locus (PSNP3) on chromosome 11p12-p11 that showed evidence of association at allelic (p less than 0.001), genotypic (p less than 0.001), and haplotypic (p less than 0.0001) levels and was narrowed to a single haplotype block containing the DNA damage-binding protein-2 (DDB2; 600811) and lysosomal acid phosphatase-2 (ACP2; 171650) genes. Since DNA damage and lysosomal dysfunction have been implicated in aging and neurodegenerative processes, Melquist et al. (2007) considered both genes to be viable candidates for conferring risk of disease.