PLP1 gene

Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease

Y. Lv, Cao, L. H., Pang, H., Lu, L. N., Li, J. L., Fu, Y., Qi, S. L., Luo, Y., and Li-Ling, J., Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease, vol. 11, pp. 2035-2044, 2012.

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder characterized by nystagmus, impaired motor development, ataxia, and progressive spasticity. Genetically defective or altered levels of proteolipid protein (PLP1) or gap-junction alpha protein 12 gene have been found to be a common cause. Here we report on two large Han Chinese families affected with this disease. The probands of both families had produced sons featuring cerebral palsy that had never been correctly diagnosed. PMD was suspected after careful analysis of family history and clinical features.

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