ArticleAnnals of neurology2015
LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.
Article in Annals of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
- LMNB1 reduction is a potential therapeutic strategy in a mouse model of autosomal dominant leukodystrophy.JCI insight · 2026Article
- Characteristic MRI pattern inFrontiers in neuroscience · 2026Article
- Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance ofNeurology. Genetics · 2025Review
- Clinical Reasoning: A 63-Year-Old Female Patient Presenting With Orthostatic Hypotension and Ataxia.Neurology · 2025Article
- Atypical Presentation of anNeurology. Genetics · 2025Article
- An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.Nature communications · 2025Article
- Case report:Frontiers in neuroscience · 2025Article
- An early-onset case of adult-onset autosomal dominant leukodystrophy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.Molecular neurobiology · 2023Review
- Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.Journal of neurology · 2023Observational
- Adult-Onset Genetic Leukoencephalopathies With Movement Disorders.Journal of movement disorders · 2023Article
- Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022Review
- Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: implications for polyglycine diseases.Acta neuropathologica · 2021Article
- Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
- Cell signaling pathways in autosomal-dominant leukodystrophy (ADLD): the intriguing role of the astrocytes.Cellular and molecular life sciences : CMLS · 2021Article
- Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant Leukodystrophy.SLAS discovery : advancing life sciences R & D · 2020Article
- Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy.Acta neurologica Scandinavica · 2019Article
- Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.Neurology. Genetics · 2019Article
- Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina.Frontiers in cell and developmental biology · 2019Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveDuplication of the LMNB1 gene encoding lamin B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms, which are followed by pyramidal signs and ataxia. Magnetic resonance imaging (MRI) of the brain reveals characteristic findings. This is the first longitudinal study on this disease. Our objective is to describe the natural clinical and radiological course of LMNB1-related ADLD.
methodsTwenty-three subjects in two families with LMNB1 duplications were studied over two decades with clinical assessment and MRI of the brain and spinal cord. They were 29 to 70 years old at their first MRI. Repeated MRIs were performed in 14 subjects over a time period of up to 17 years.
resultsPathological MRI findings were found in the brain and spinal cord in all examinations (i.e., even preceding clinical symptoms). MRI changes and clinical symptoms progressed in a definite order. Autonomic dysfunction appeared in the fifth to sixth decade, preceding or together with gait and coordination difficulties. Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the seventh decade. There were clinical, radiological, and neurophysiological signs of myelopathy. Survival lasted more than two decades after clinical onset.
interpretationLMNB1-related ADLD is a slowly progressive neurological disease. MRI abnormalities of the brain and spinal cord can precede clinical symptoms by more than a decade and are extensive in all symptomatic patients. Spinal cord involvement is a likely contributing factor to early autonomic symptoms and spastic paraplegia.
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