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

1 Citation (Web of Science)


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. (c) 2020 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
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

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