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 this study, we undertook a comprehensive clinical 
evaluation and genetic detection for a Chinese family with ADLD. The proband is 
a 52-year old man manifested with autonomic abnormalities, pyramidal tract 
dysfunction. MRI brain scan identified bilateral symmetric white matter (WM) 
hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and 
middle cerebellar peduncles. The proband has a positive autosomal dominant 
family history with similar clinical manifestations with a trend of genetic 
anticipation. In order to understand the genetic cause of the disease in this 
family, target exome capture based next generation sequencing has been done, but 
no causative variants or possibly pathogenic variants has been identified. 
However, Multiplex ligand-dependent probe amplification (MLPA) showed whole 
duplication of LMNB1 gene which is co-segregated with the disease phenotype in 
this family. This is the first genetically confirmed LMNB1 associated ADLD 
pedigree from China.