LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature

Yanyan Zhang; Jie Li; Rong Bai; Jianping Wang; Tao Peng; Lijie Chen; Jingtao Wang; Yanru Liu; Tian Tian; Hong Lu

doi:10.3389/fnins.2019.01030

LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature

Front Neurosci. 2019 Oct 21:13:1030. doi: 10.3389/fnins.2019.01030. eCollection 2019.

Authors

Yanyan Zhang¹, Jie Li¹, Rong Bai¹, Jianping Wang², Tao Peng¹, Lijie Chen¹, Jingtao Wang¹, Yanru Liu¹, Tian Tian¹, Hong Lu¹

Affiliations

¹ Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
² Department of Neurology, The Fifth Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Abstract

Adult-onset autosomal dominant leukodystrophy (ADLD) is a lately described rare form of leukodystrophy with only one family report from China. As the only disease associated with increased lamina B1 encoded by LMNB1, ADLDs have different clinical presentations, ranging from autonomic to pyramidal tract and cerebellar ataxia. Here, we report a case of ADLD that presented with positional tremor as the initial symptom. T2-weighted brain MRI showed brain atrophy and diffuse high signal intensity of the cerebral white matter and the brain stem. The precise diagnosis was made by identification of the mutated gene. To the best of our knowledge, this is perhaps the first case report of ADLD presenting as tremor in China.

Keywords: LMNB1 gene; adult-onset autosomal dominant leukodystrophy; movement disorder; neurodegenerative disease; tremor.