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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



  An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family

Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1) gene causes ADLD. In Jun 18, 2017, Yi Dai and others published an article in << Front. Mol. Neurosci.>> which title is “An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis”, In this study, they undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. This is the first genetically confirmed LMNB1 associated ADLD pedigree from China.

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