Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation

N Z Med J. 2020 Apr 24;133(1513):116-118.

Abstract

Perry syndrome is a rare neurological condition characterised clinically by depression, sleep disturbance, central hypoventilation and parkinsonism. Perry 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 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.

Publication types

  • Case Reports

MeSH terms

  • Depression / diagnosis
  • Depression / genetics
  • Depression / physiopathology
  • Dynactin Complex / genetics*
  • Female
  • Humans
  • Hypoventilation* / diagnosis
  • Hypoventilation* / genetics
  • Hypoventilation* / physiopathology
  • Middle Aged
  • Mutation / genetics*
  • Parkinsonian Disorders* / diagnosis
  • Parkinsonian Disorders* / genetics
  • Parkinsonian Disorders* / physiopathology
  • Pedigree

Substances

  • DCTN1 protein, human
  • Dynactin Complex

Supplementary concepts

  • Perry Syndrome