Cerebral Sclerosis Similar To Pelizaeus-Merzbacher Disease

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

PLP1, LMNB1, PRDX5, AIMP1, POLR3A, PTHLH, PDXP, GJC2, RNF6, VEGFD, MBP, PMP22, IFT122, TYRP1, KCNQ1OT1, TUBB4A, TBPL1, SPG16, AFP, RARS1, AMH, MSH3, MAG, L1CAM, GPM6B, GJA3, CAPN3, CAPN2, CAPN1, CDT1

Drugs

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Fahmy et al. (1969) observed a brother and sister (out of a sibship of 11), offspring of first-cousin parents, with a slowly progressive neurologic disorder that began in early childhood. Electron microscopic studies of sural nerve showed unique rod-shaped bodies in Schwann cells. The clinical picture was similar to that of Pelizaeus-Merzbacher disease (312080).