Repository logo
 

DCTN1 Mutation Associated Parkinsonism: Case Series of Three New Families with Perry Syndrome

Accepted version
Peer-reviewed

Type

Article

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

Volume Title

Publisher

Springer
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)
RCUK/UKRI Research Innovation Fellowship awarded by the Medical Research Council (MR/R007446/1). NIHR Cambridge Biomedical Research Centre (BRC-1215-20014).