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

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

doi:10.3389/fnins.2019.01030

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.

Highlights

Leukodystrophies refer to a series of rare genetic, progressive disorders primarily characterized by demyelination or hypomyelination of the central nervous system (CNS), representing approximately the epidemiological frequency of 1/50,000-1/7500 (Kohler et al, 2018)
Tremor is characterized by a rhythmic and involuntary movement of any body part. It commonly has been reported with diseases such as essential tremor, Parkinson disease (PD), multiple sclerosis (MS), and psychogenic and drug-induced tremor (Elias and Shah, 2014)
The Italy-1 family was distinguished from others and defined as autosomal dominant leukodystrophy (ADLD)-1-TO because of variant features of the absence of the autonomic dysfunction, relative sparing of cerebellar white matter (WM), and the increased laminB1 mRNA without LMNB1 duplication (Brussino et al, 2010; Giorgio et al, 2015)

Summary

INTRODUCTION

Leukodystrophies refer to a series of rare genetic, progressive disorders primarily characterized by demyelination or hypomyelination of the central nervous system (CNS), representing approximately the epidemiological frequency of 1/50,000-1/7500 (Kohler et al, 2018). Adult-onset autosomal dominant leukodystrophy (ADLD) is an autosomal dominant inherited demyelinating disorder, with progressive loss of white matter (WM) in the CNS. LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy have been reported (Mezaki et al, 1984; Schuster et al, 1984; Brussino et al, 2009; Dos Santos et al, 2012; Molloy et al, 2012). Duplication and deletion upstream of LMNB1 are two different mechanisms of ADLD to result in the increasing expression and accumulation of laminB1 (Mezaki et al, 1984; Giorgio et al, 2015; Padiath, 2015; Nmezi et al, 2019). Written informed consent was obtained from the parents or guardians of the participant for the publication of this case report, and the study was conducted in accordance with the principles of the Declaration of Helsinki and relevant policies in China

DISCUSSION

58 Tremor of limbs

CONCLUSION

DATA AVAILABILITY STATEMENT

ETHICS STATEMENT