DCTN1 Mutation Associated Parkinsonism: Case Series of Three New Families with Perry Syndrome
Williams-Gray, Caroline H
Journal of Neurology
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Stoker, T., & Williams-Gray, C. H. (2022). DCTN1 Mutation Associated Parkinsonism: Case Series of Three New Families with Perry Syndrome. Journal of Neurology https://doi.org/10.1007/s00415-022-11308-3
Mutations in the DCTN1 gene cause the Perry syndrome: an autosomal dominant form of heredodegenerative parkinsonism, accompanied by neuropsychiatric symptoms, profound weight loss, and later, ventilatory dysfunction . Perry syndrome is rare, having been reported in 32 families worldwide , but early recognition of this syndrome is particularly important since intervention in the form of ventilatory support can improve life expectancy . Here we discuss three unrelated individuals with genetically confirmed Perry syndrome associated with autosomal dominant family histories of parkinsonism.
RCUK/UKRI Research Innovation Fellowship awarded by the Medical Research Council (MR/R007446/1). NIHR Cambridge Biomedical Research Centre (BRC-1215-20014).
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Medical Research Council (MR/R007446/1)
National Institute for Health Research (IS-BRC-1215-20014)
External DOI: https://doi.org/10.1007/s00415-022-11308-3
This record's URL: https://www.repository.cam.ac.uk/handle/1810/339532
Attribution 4.0 International
Licence URL: https://creativecommons.org/licenses/by/4.0/