Dr Eileen Mc Manus is an Advanced Trainee in Neurology working at Waikato General Hospital, Hamilton, New Zealand. She was born and trained in Ireland, gaining both MBChB and Neuroscience MSc from Trinity College Dublin 2013. She moved to New Zealand in 2015, working first in Thames Hospital and then Waikato General Hospital. In her spare time, she is an avid hiker and loves the outdoors including landscape photography.
Perry’s Syndrome: A Case of Atypical Parkinsonism with Confirmed DCTN1 Mutation.
Perry’s syndrome is a rare neurodegenerative condition characterised clinically by depression, sleep disturbance, central hypoventilation and parkinsonism. Perry’s syndrome is a TAR DNA-binding protein 43 (TDP-43) proteinopathy associated with mutated dynactin-1 protein, inherited in an autosomal dominant manner. Several pathogenic mutations in exon 2 in the dynactin 1 gene have been identified; p. F521, p. G67d, p. G71R, p. G71E, p. G71A, p. T72p, p. Q74p and p. Y78C. We present the second known case Perry’s Syndrome with confirmed DCTN1 mutation (p. Y78C) in New Zealand, who initially was thought to have a depressive illness. Perry syndrome should be considered in the differential diagnosis of young parkinsonism especially if there is family history of sleep disorders, weight loss and/or marked depression