| Amyotrophic lateral sclerosis-plus syndrome with TAR DNA-binding protein-43 pathology. | |
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MedLine Citation:
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PMID: 19139310 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Amyotrophic lateral sclerosis (ALS)-Plus syndromes meet clinical criteria for ALS but also include 1 or more additional features such as dementia, geographic clustering, extrapyramidal signs, objective sensory loss, autonomic dysfunction, cerebellar degeneration, or ocular motility disturbance. METHODS: We performed a whole-brain and spinal cord pathologic analysis in a patient with an ALS-Plus syndrome that included repetitive behaviors along with extrapyramidal and supranuclear ocular motility disturbances resembling the clinical phenotype of progressive supranuclear palsy. RESULTS: There was motoneuron cell loss and degeneration of the corticospinal tracts. Bunina bodies were present. TAR DNA-binding protein-43 pathology was diffuse. Significant tau pathology was absent. CONCLUSIONS: TAR DNA-binding protein-43 disorders can produce a clinical spectrum of neurodegeneration that includes ALS, frontotemporal lobar degeneration, and ALS with frontotemporal lobar degeneration. The present case illustrates that isolated TAR DNA-binding protein-43 disorders can produce an ALS-Plus syndrome with extrapyramidal features and supranuclear gaze palsy resembling progressive supranuclear palsy. |
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Authors:
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Leo F McCluskey; Lauren B Elman; Maria Martinez-Lage; Vivianna Van Deerlin; Wuxing Yuan; Dana Clay; Andrew Siderowf; John Q Trojanowski |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Archives of neurology Volume: 66 ISSN: 1538-3687 ISO Abbreviation: Arch. Neurol. Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2009-01-13 Completed Date: 2009-02-19 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 121-4 Citation Subset: AIM; IM |
Affiliation:
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Department of Neurology, University of Pennsylvania School of Medicine, 330 S 9th St, Philadelphia, PA 19107, USA. lfmcclusky@pahosp.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Aged Amyotrophic Lateral Sclerosis / complications*, genetics*, physiopathology Brain / metabolism, pathology*, physiopathology DNA Mutational Analysis DNA-Binding Proteins / genetics* Dementia / genetics*, metabolism, physiopathology Disease Progression Fatal Outcome Genetic Markers / genetics Genetic Predisposition to Disease / genetics Genetic Testing Genotype Humans Inclusion Bodies / pathology Male Motor Neurons / pathology Mutation / genetics Ocular Motility Disorders / genetics*, metabolism, physiopathology Pyramidal Tracts / pathology |
| Grant Support | |
ID/Acronym/Agency:
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P50 NS053488-02/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; 0/Genetic Markers; 0/protein TDP-43 |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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