Category: Parkinson's Disease: Genetics
Objective: We aimed to characterize parkinsonian features in young adults with 22q11.2 deletion syndrome (22q11.2DS) using clinical and kinematic assessments, and to compare them with Parkinson’s disease (PD) patients and healthy controls (HC).
Background: 22q11.2DS is associated with an increased risk of early-onset parkinsonism, yet its motor phenotype in young adults remains poorly defined.
Method: Seventeen consecutive young adults with 22q11.2DS were enrolled and compared with 14 HC (age- and sex-matched) and 35 PD patients. Motor and cognitive symptoms were clinically evaluated. Furthermore, distinct bradykinesia features were objectively quantified using optoelectronic motion analysis of finger tapping task. Four patients were receiving antipsychotic treatment.
Results: All 22q11.2DS patients exhibited clinically detectable bradykinesia. Eight patients (47%) fulfilled criteria for parkinsonism, presenting with rigidity (n=5), resting tremor (n=2), or both (n=1). Motor symptoms clinical scores were comparable between 22q11.2DS and PD. Kinematic analysis showed that 22q11.2DS patients performed finger tapping more slowly than HC but similarly to PD. Compared with HC and PD groups, movements in 22q11.2DS patients were smaller in amplitude and less regular [figure1]. MoCA scores were significantly lower in 22q11.2DS compared with PD. No correlations were found between parkinsonian motor symptoms or cognitive performance and any of the kinematic measures.
Conclusion: Young adults with 22q11.2DS show a parkinsonian motor phenotype partially overlapping with PD but with distinct additional features (i.e., hypokinesia and dysrhythmia). Movement abnormalities are independent of cognitive impairment. These findings highlight kinematic analysis as a valuable tool for assessing motor function in young adults with 22q11.2DS.
Finger tapping kinematics across groups
References: Reyes NGD, Grippe T, Callister M, Abkur T, Villanueva III EQ, Heung T, et al. Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome. European Journal of Neurology. 2025;32(6):e70256.
Boot, E., Bassett, A. S., & Marras, C. (2018). 22q11.2 Deletion Syndrome-Associated Parkinson’s Disease. Movement disorders clinical practice, 6(1), 11–16. https://doi.org/10.1002/mdc3.12687
von Scheibler, E. N. M. M., Swillen, A., Repetto, G. M., Reyes, N. G. D., Lang, A. E., Marras, C., Kuijf, M. L., Rouhl, R. P. W., van Eeghen, A. M., Juri, C., Vogels, A., van Amelsvoort, T. A. M. J., Bassett, A. S., & Boot, E. (2025). Prevalence of Parkinson’s Disease in 22q11.2 Deletion Syndrome: A Multicenter Study. Movement disorders clinical practice, 12(6), 817–822. https://doi.org/10.1002/mdc3.14354
To cite this abstract in AMA style:
L. Angelini, A. Mazzeo, E. Cerulli Irelli, A. de Core, D. Birreci, AS. Grandolfo, MS. Borioni, S. Aloisio, M. de Riggi, F. Pulvirenti, C. Di Bonaventura, M. Bologna. Clinical and Kinematic Assessment of Parkinsonian Features in Young Adults with 22q11.2 Deletion Syndrome [abstract]. Mov Disord. 2026; 41 (suppl 1). https://www.mdsabstracts.org/abstract/clinical-and-kinematic-assessment-of-parkinsonian-features-in-young-adults-with-22q11-2-deletion-syndrome/. Accessed October 1, 2026.« Back to 2026 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-and-kinematic-assessment-of-parkinsonian-features-in-young-adults-with-22q11-2-deletion-syndrome/