ArticleBMJ case reports2017
Respiratory difficulty with palatal, laryngeal and respiratory muscle tremor in adult-onset Alexander's disease.
Article in BMJ case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Behavioral characterization of bulbar sensorimotor function in a rat model of Alexander disease.Behavioural brain research · 2026Article
- Multifaceted Mesodiencephalic Triangles: Insights into Hypertrophic Olivary Degeneration and Oculopalatal Tremor Pathophysiology.Cerebellum (London, England) · 2025Review
- Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.Journal of child neurology · 2021Review
- Proteostasis collapse is a driver of cell aging and death.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- A Novel Mutation ofFrontiers in neurology · 2019Article
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sleep apnoea and respiratory difficulties are reported in adult-onset Alexander's disease (AOAD), an autosomal-dominant leukodystrophy that presents mainly with progressive ataxia. We demonstrate for the first time that the respiratory symptoms can result from association of palatal tremor with a similar tremor of laryngeal and respiratory muscles that interrupts normal inspiration and expiration.A 60-year-old woman presented with progressive ataxia, palatal tremor and breathlessness. MRI revealed medullary atrophy, bilateral T2 hyperintensities in the dentate nuclei and hypertrophic olivary degeneration (HOD). AOAD was confirmed genetically with a positive glial fibrillary acidic protein (GFAP) mutation. Electrophysiological study revealed 1.5 Hz rhythmic laryngeal and respiratory muscle activity. Her respiratory symptoms were significantly improved at night with variable positive pressure ventilation.This case illustrates that palatal tremor in AOAD, and potentially in other conditions, may be associated with treatable breathlessness due to a similar tremor of respiratory muscles.
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