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Title: Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2
Authors: 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 
Wood, Nicholas W 
Booij, Jan 
Lang, Anthony E 
Bassett, Anne S 
Keywords: Enfermedad de Parkinson;Enfermedades Neurodegenerativas;Síndrome de Deleción 22q11;Estudio Observacional
Issue Date: 5-Jun-2018
Journal: Neurology 
Abstract: 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.
DOI: 10.1212/WNL.0000000000005660
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