Case Report ARTICLE
LMNB1-related Adult-onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder：A Case Report of Chinese Patient
- 1Department of Neurolgoy, First Affiliated Hospital of Zhengzhou University, China
Adult-onset autosomal dominant leucodystrophy (ADLD) is a lately described rare form of leukodystrophy with only one family report from China. As the only disease associated with lamina B1 encoded by LMNB1, ADLDs have different clinical presentations, ranging from autonomous to pyramidal tract and cerebellar ataxia. Here we are reporting a case of ADLD which presented with positional tremor as the initial symptom, and later, to progressive autonomanous and pyramidal signs and symptoms developed. 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: Adult-onset autosomal dominant leukodystrophy, LMNB1 Gene, movement disorder, Tremor, neurodegenerative disease
Received: 18 Mar 2019;
Accepted: 11 Sep 2019.
Copyright: © 2019 Zhang, Li, Tian, Lu, Bai, Wang, Peng, Cheng, Wang and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Mx. Tian Tian, Department of Neurolgoy, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China, firstname.lastname@example.org
MD. Hong Lu, Department of Neurolgoy, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China, email@example.com