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Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

Boot, Erik, Butcher, Nancy J., Udow, Sean, Marras, Connie, Mok, Kin Y., Kaneko, Satoshi, Barrett, Matthew J., Prontera, Paolo, Berman, Brian D., Masellis, Mario, Dufournet, Boris, Nguyen, Karine, Charles, Perrine, Mutez, Eugénie, Danaila, Teodor, Jacquette, Aurélia, Colin, Olivier, Drapier, Sophie, Borg, Michel, Fiksinski, Ania M., Vergaelen, Elfi, Swillen, Ann, Vogels, Annick, Plate, Annika, Perandones, Claudia, Gasser, Thomas, Clerinx, Kristien, Bourdain, Frédéric, Mills, Kelly, Williams, Nigel M. ORCID:, Wood, Nicholas W., Booij, Jan, Lang, Anthony E. and Bassett, Anne S. 2018. Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2. Neurology 90 (23) , e2059-e2067. 10.1212/WNL.0000000000005660

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Objective: To delineate the natural history, diagnosis, and treatment response of Parkinson disease (PD) in individuals with 22q11.2 deletion syndrome (22q11.2DS), and to determine if these patients differ from those with idiopathic PD. Methods: In this international observational study, we characterized the clinical and neuroimaging features of 45 individuals with 22q11.2DS and PD (mean follow-up 7.5 ± 4.1 years). Results: 22q11.2DS PD had a typical male excess (32 male, 71.1%), presentation and progression of hallmark motor symptoms, reduced striatal dopamine transporter binding with molecular imaging, and initial positive response to levodopa (93.3%). Mean age at motor symptom onset was relatively young (39.5 ± 8.5 years); 71.4% of cases had early-onset PD (<45 years). Despite having a similar age at onset, the diagnosis of PD was delayed in patients with a history of antipsychotic treatment compared with antipsychotic-naive patients (median 5 vs 1 year, p = 0.001). Preexisting psychotic disorders (24.5%) and mood or anxiety disorders (31.1%) were common, as were early dystonia (19.4%) and a history of seizures (33.3%). Conclusions: Major clinical characteristics and response to standard treatments appear comparable in 22q11.2DS-associated PD to those in idiopathic PD, although the average age at onset is earlier. Importantly, treatment of preexisting psychotic illness may delay diagnosis of PD in 22q11.DS patients. An index of suspicion and vigilance for complex comorbidity may assist in identifying patients to prioritize for genetic testing.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Additional Information: This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Publisher: American Academy of Neurology (AAN)
ISSN: 0028-3878
Date of First Compliant Deposit: 4 June 2018
Date of Acceptance: 22 March 2018
Last Modified: 04 May 2023 22:56

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