ArticleAnnals of neurology2002
Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.
Article in Annals of neurology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 41 citations in OpenAlex.
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- Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Could Dissimilar Phenotypic Effects ofMolecular syndromology · 2019Article
- Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.Journal of neurodevelopmental disorders · 2018Article
- Pathogenic Variant inCase reports in genetics · 2017Article
- Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.European journal of human genetics : EJHG · 2015Article
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- Cofilin aggregation blocks intracellular trafficking and induces synaptic loss in hippocampal neurons.The Journal of biological chemistry · 2012Article
- β-Actin specifically controls cell growth, migration, and the G-actin pool.Molecular biology of the cell · 2011Article
- Actin and Diseases of the Nervous System.Advances in neurobiology · 2011Article
- Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.Human heredity · 2011Article
- Actin cytoskeleton dynamics linked to synovial fibroblast activation as a novel pathogenic principle in TNF-driven arthritis.Annals of the rheumatic diseases · 2007Review
- A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.American journal of human genetics · 2006Article
- Article
- Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
The neuropathology of the primary dystonias is not well understood. We examined brains from identical twins with DYT1-negative, dopa-unresponsive dystonia. The twins exhibited mild developmental delays until age 12 years when they began developing rapidly progressive generalized dystonia. Genetic, metabolic, and imaging studies ruled out known causes of dystonia. Cognition was subnormal but stable until the last few years. Death occurred at ages 21 and 22 years. The brains were macroscopically unremarkable. Microscopic examination showed unusual glial fibrillary acidic protein-immunoreactive astrocytes in multiple regions and iron accumulation in pallidal and nigral neurons. However, the most striking findings were 1) eosinophilic, rod-like cytoplasmic inclusions in neocortical and thalamic neurons that were actin depolymerizing factor/cofilin-immunoreactive but only rarely actin-positive; and 2) abundant eosinophilic spherical structures in the striatum that were strongly actin- and actin depolymerizing factor/cofilin-positive. Electron microscopy suggested that these structures represent degenerating neurons and processes; the accumulating filaments had the same dimensions as actin microfilaments. To our knowledge, aggregation of actin has not been reported previously as the predominant feature in any neurodegenerative disease. Thus, our findings may shed light on a novel neuropathological change associated with dystonia that may represent a new degenerative mechanism involving actin, a ubiquitous constituent of the cytoskeletal system.
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