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

SUBMITTER: Boot E 

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

REPOSITORIES: biostudies-literature

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

Boot Erik E   Mentzel Thierry Q TQ   Palmer Lisa D LD   van Harten Peter N PN   Marras Connie C   Lang Anthony E AE   Bassett Anne S AS  

Movement disorders : official journal of the Movement Disorder Society 20200509 7


<h4>Background</h4>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.<h4>Objectives</h4>We examined the presence, severity and possible factors associated with parkinsonism in adults with 22q11.2 deletion syndrome and without PD.<h4>Methods</h4>We compared motor signs between 82 adults with 22q11.2 deletion syndrome and 25 healthy c  ...[more]

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