Age-Related Parkinsonian Signs in Microdeletion 22q11.2.

ABSTRACT:

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

SUBMITTER: Boot E 

PROVIDER: S-EPMC7497092 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature