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

FRONTIERS IN NEUROSCIENCE (2019)

期刊

FRONTIERS IN NEUROSCIENCE

卷 13, 期 -, 页码 -

出版社

FRONTIERS MEDIA SA

DOI: 10.3389/fnins.2019.01030

关键词

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

类别

Neurosciences

资金

National Natural Science Foundation of China [U1804171]

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Protocol

Reagent

摘要

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.

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