학술논문
Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.
Document Type
Letter
Author
Source
Subject
*LEUKODYSTROPHY
*URINATION
*CHROMOSOME duplication
*GAIT disorders
*MOVEMENT disorders
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Language
ISSN
0340-5354
Abstract
The article discusses the diagnosis and symptoms of an adult-onset autosomal dominant leukodystrophy (ADLD) caused by Lamin B1 gene (LMNB1). It cites the case of a 47-year-old man with 2-year history of gait disturbance and micturition problems with imperative strangury. It notes the patient's clinical examinations and describes the result. It emphasizes that physicians should consider the case of late-onset leukodystrophy with autosomal-dominant inheritance in diagnosing ADLD.