DCTN1 Mutation Associated Parkinsonism: Case Series of Three New Families with Perry Syndrome
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Stoker, Thomas
Williams-Gray, Caroline H
Abstract
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 [1]. Perry syndrome is rare, having been reported in 32 families worldwide [2], but early recognition of this syndrome is particularly important since intervention in the form of ventilatory support can improve life expectancy [3]. Here we discuss three unrelated individuals with genetically confirmed Perry syndrome associated with autosomal dominant family histories of parkinsonism.
Description
Keywords
Humans, Hypoventilation, Parkinsonian Disorders, Depression, Mutation, Dynactin Complex
Journal Title
Journal of Neurology
Conference Name
Journal ISSN
0340-5354
1432-1459
1432-1459
Volume Title
Publisher
Springer
Publisher DOI
Sponsorship
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Medical Research Council (MR/R007446/1)
National Institute for Health and Care Research (IS-BRC-1215-20014)
Medical Research Council (MR/R007446/1)
National Institute for Health and Care Research (IS-BRC-1215-20014)
RCUK/UKRI Research Innovation Fellowship awarded by the Medical Research Council (MR/R007446/1). NIHR Cambridge Biomedical Research Centre (BRC-1215-20014).