Cerebral Sclerosis, Diffuse, Scholz Type

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ABCD1, IFNG, SOD2, PEX13, HMOX1, PEX26, PEX1, CYP2E1, ABCD2, TNF, ABCB6, TLR4, ABCG2, ABCD3, PNPLA3, AMN, CD14, SLC27A2, ACSBG1, IL10, IL1B, IL6, HAMP, TGFB1, TM6SF2, NFE2L2, AKR1B1P2, STAT3, ELOVL1, ACTB, ALDH2, HFE, AKR1A1, ABCA4, GABPA, GPT, BCL2, SIRT1, MIR122, MOG, SPP1, ST8SIA4, CTNNB1, ADH1C, GLB1, ST14, HMGB1, IL22, GSTM1, ELANE, GSTP1, MFAP1, NR1H4, APRT, CCR2, PRKAA1, MIR34A, IGF1, ABCD4, GSTK1, ANXA2, BCAP31, SLCO6A1, IL33, POMC, POTEF, LBP, PPARA, HSD17B4, IL1A, COX8A, CD34, SOCS3, CHST3, PCSK7, NR1I3, CLOCK, GRAP2, EIF2AK3, ZEB2, NAT2, NOL3, WASF1, ST2, STIM1, TAC1, TCF4, TCF7L2, TFRC, TJP1, TLR2, TLR3, TPO, TTR, UBE2I, UCHL1, UCP2, VDR, VLDLR, XBP1, AIMP2, CYP4F2, ABCB11, BECN1, MBTPS1, SQSTM1, EIF2B2, ENDOU, TRPV1, TREX1, AKT3, HSD17B13, DEPTOR, MBOAT7, GRHL2, TET1, ACSBG2, DGAT2, GGTLC1, IL17F, EXOSC6, RBM45, PCSK9, STON1-GTF2A1L, MIR155, PPIF, MIR200A, MIR212, POU5F1P3, POU5F1P4, GGTLC5P, GGTLC3, GGT2, GGTLC4P, PBC2, LOC102723407, LOC102724197, CBSL, SPHK2, PIWIL2, UGT1A1, SIRT6, NAMPT, PLIN3, ACAA2, ATG7, AHSA1, KHDRBS1, SLC27A5, GTF2A1L, STON1, SCAP, LPIN1, NUP62, RNF19A, CHMP2B, POLDIP2, RNU1-1, HPGDS, IGHV3OR16-7, IGHV3-69-1, SNX10, IL19, SLC40A1, NOX4, DCTN4, PIPOX, SPINK1, PRKAA2, SNCA, DLAT, CHI3L1, CHIT1, ERCC8, CLTC, ABCC2, CNR1, CRK, MAPK14, CSH1, CSH2, NCAN, CYP2B6, CYP21A2, DMPK, GSTA1, DMRT1, DNASE1, ATN1, FBL, FOXO3, MTOR, NR5A1, FUT1, G6PD, MSTN, GGT1, GJB1, GLUL, CFTR, CES1, CD44, CD19, ABR, ACAA1, ADH1B, ADH5, AFM, AKT1, ALB, AKR1B1, ALOX15, AMCN, FAS, AQP2, ARRB2, ATF4, AVP, BAX, BCHE, C5, C5AR1, CASP1, CASP3, CASP8, CBS, CD1A, CD1B, CD1C, CD1D, GSK3B, GSTT1, SLC6A8, MAPK1, PDE4A, PEX6, PHYH, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PMP22, POU5F1, PPARD, PPARG, PPID, PRKAB1, MAPK3, GTF2H1, MAPK8, PRSS1, RASGRF2, RHEB, BRD2, ROS1, S100A4, S100A10, CCL2, CCL22, SRSF4, SGCA, SLC4A1, PCNA, SERPINE1, NVL, NTF3, HADHB, HADH, HIF1A, HLA-DRB1, HSD11B1, HSPA5, HSPA9, HSPD1, HSPG2, IFNB1, IGH, IL1RN, IL4, IL12B, IL17A, IRF3, KDR, KRT18, L1CAM, LAMP1, LAMP2, LRP6, MAG, MBP, MYD88, GADD45B, SLC11A2, LOC102724971

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Autologous haematopoietic stem cells transduced with lentiviral vector Lenti-D encoding the human ABCD1 cDNA, Hydrocortisone ( ALKINDI ), Hydrocortisone (modified release tablet) ( PLENADREN ), Hydroxypioglitazone, Pioglitazone, Prasterone, Temsirolimus ( TORISEL ), haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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Ford (1966) referred to this form as the subacute childhood type. It begins at age 8-10 years and is characterized by deafness, blindness, weakness and spasticity of the legs, and dementia. Survival is shorter after onset of symptoms. However, in the family reported by Scholz (1925), although the affected males in the youngest generation showed this picture, their maternal grandfathers, aged 65 and 60, had the picture of spastic paraplegia. Scholz (1925) used histologic techniques which would have removed metachromatic material. When the cases of Scholz were restudied by Peiffer (1959) using frozen sections, striking metachromasia was demonstrated. Walsh (1957) described under the heading of Schilder disease, or encephalitis periaxialis diffusa, a kindred in which 4 males, offspring of sisters, succumbed to an illness possibly of the type shown by Scholz's youngest patients. See also Addison disease and cerebral sclerosis (300100). It seems highly probable that Scholz's patients suffered from a form of adrenoleukodystrophy (300100); the family reported by Walsh (1957) should be restudied.