ArticleAJNR. American journal of neuroradiology2009
MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.
Article in AJNR. American journal of neuroradiology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 52 citations in OpenAlex.
- Characteristic MRI pattern inFrontiers in neuroscience · 2026Article
- Progressive Spastic Paraparesis as the Dominant Manifestation of Adolescent-Onset Alexander Disease: Case Report and Literature Review.Journal of clinical medicine · 2025Article
- Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance ofNeurology. Genetics · 2025Review
- Neuroglial Pathophysiology of Leukodystrophies.Advances in neurobiology · 2025Review
- Case report:Frontiers in neuroscience · 2025Article
- 'Grasshopper sign': the novel imaging of post-COVID-19 myelopathy with delayed longitudinal white matter abnormalities.BMJ neurology open · 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 leukodystrophies: a practical guide, recent treatment updates, and future directions.Frontiers in neurology · 2023Review
- 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
- Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy.Acta neurologica Scandinavica · 2019Article
- LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature.Frontiers in neuroscience · 2019Article
- An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis.Frontiers in molecular neuroscience · 2017Article
- Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.Nucleus (Austin, Tex.) · 2016Review
- LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.Annals of neurology · 2015Article
- Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).Human molecular genetics · 2015Article
- Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2014Article
- B-type lamins in health and disease.Seminars in cell & developmental biology · 2014Review
- Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs.Translational neurodegeneration · 2014Article
- Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.Journal of neurology · 2013Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeMR imaging findings in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms have been described in the brain, but no descriptions of MR imaging findings in the spinal cord have been published. Here, we describe MR imaging findings in the spinal cord in adult-onset ADLD with autonomic symptoms and histopathologic investigations of the spinal cord. MATERIALS AND
methodsTwelve subjects from 2 families with adult-onset ADLD with autonomic symptoms identified by clinical investigation underwent MR imaging examination of the spinal cord. Sagittal and transverse sections were obtained. MR imaging examination of the brain was performed in 11 patients. One of the patients underwent postmortem examination, and the spinal cord was subjected to histopathologic analysis.
resultsIn all family members with adult-onset ADLD with autonomic symptoms, even in the asymptomatic person, the spinal cord was thin. All examined family members also had a slight general white matter signal intensity (SI) increase in the whole spinal cord, mainly visible in T2-weighted transverse images. The pathologic examination revealed a discrete demyelination in the spinal cord. Brain MR imaging also showed increased T2 SI in the white matter.
conclusionsThe spinal cord is affected in adult-onset ADLD with autonomic symptoms. Findings consist of atrophy and a diffuse T2 SI increase in the white matter. Transverse images are needed to assess these findings. The typical SI changes of the spinal cord are also present in subjects without clinical symptoms of the disease and with very limited changes in the brain.
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