Age-Related Parkinsonian Signs in Microdeletion 22q11.2

E. Boot*, T.Q. Mentzel, L.D. Palmer, P.N. van Harten, C. Marras, A.E. Lang, A.S. Bassett

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Background: The recurrent hemizygous 22q11.2 deletion associated with 22q11.2 deletion syndrome has been identified as a genetic risk factor for early-onset PD. However, little is known about early motor signs in this condition. Objectives: We examined the presence, severity and possible factors associated with parkinsonism in adults with 22q11.2 deletion syndrome and without PD. Methods: We compared motor signs between 82 adults with 22q11.2 deletion syndrome and 25 healthy controls, using the MDS-UPDRS part III, and three-dimensional motion-tracker technology to quantify components of bradykinesia. Results: Median MDS-UPDRS part III total and bradykinesia subscores were significantly higher in 22q11.2 deletion syndrome (median age: 26 years; range, 17–65) than in controls (P = 0.000; P = 0.000, respectively). Age was a significant contributor to bradykinesia subscore (B = 0.06; P = 0.01) and to the electronic bradykinesia component, velocity (B = –0.02; P = 0.000); psychotic illness did not significantly impact these analyses. In 22q11.2 deletion syndrome, MDS-UPDRS–defined bradykinesia was present in 18.3%, rigidity in 14.6%, and rest tremor in 12.2%. Conclusions: Parkinsonian motor signs appear to be common and age related in 22q11.2 deletion syndrome. Longitudinal studies are needed to investigate possible symptom progression to PD.

Original languageEnglish
Pages (from-to)1239-1245
Number of pages7
JournalMovement Disorders
Issue number7
Publication statusPublished - 1 Jul 2020


  • 2 deletion syndrome
  • 22q11
  • adults
  • aging
  • association
  • clinical-features
  • deletion
  • disease
  • disorder
  • motor abnormalities
  • parkinson's disease
  • parkinsonism
  • symptoms
  • wearable sensors
  • Parkinson's disease

Cite this