Please use this identifier to cite or link to this item:
http://sgc.anlis.gob.ar/handle/123456789/610
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 | Publisher: | Lippincott, Williams & Wilkins | 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. |
Description: | Fil: Boot, Erik. From The Dalglish Family 22q Clinic for Adults and Department of Psychiatry; Canada. Fil: Butcher, Nancy J. Academic Medical Center, Amsterdam, the Netherlands; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute; Canada. Fil: Udow, Sean. University of Toronto; Deer Lodge Movement Disorders Centre; Canada. Fil: Marras, Connie. Division of Neurology, Department of Medicine; Canada. Fil: Mok, Kin Y. Toronto Western Hospital and University of Toronto, Canada; Department of Molecular Neuroscience; Canada. Fil: Kaneko, Satoshi. Institute of Neurology, London, UK; Department of Neurology; Reino Unido. Fil: Barrett, Matthew J. Kansai Medical University, Osaka, Japan; Department of Neurology; Japón. Fil: Prontera, Paolo. University of Virginia School of Medicine, Charlottesville; Medical Genetics Unit; Estados Unidos. Fil: Berman, Brian D. Perugia University Hospital, Italy; Department of Neurology; Italia. Fil: Masellis, Mario. Division of Neurology, Department of Medicine; Canada. Fil: Dufournet, Boris. Sunnybrook Health Sciences Centre, Toronto, Canada; Departments of Clinical Neurosciences (Movement Disorders); Canada. Fil: Nguyen, Karine. Timone University Hospital (AP-HM), Provence-Alpes-Côte d'Azur; Aix-Marseille University ; Francia. Fil: Charles, Perrine. Marseille; Department of Genetics (Neurogenetics); Francia. Fil: Mutez, Eugénie. Pitié-Salpêtrière University Hospital; Sorbonne University (P.C., A.J.), Paris; Department of Neurosciences (Movement Disorders); Francia. Fil: Danaila, Teodor. Department of Neurology (Movement Disorders); Canada. Fil: Jacquette, Aurélia. Marseille; Department of Genetics (Neurogenetics); Francia. Fil: Colin, Olivier. Lyon-1 University; Department of Neurology (Movement Disorders) and Clinical Investigation Center (Clinical and Experimental Neurosciences); Francia. Fil: Drapier, Sophie. Poitiers University Hospital; Department of Neurology (Movement Disorders); Francia. Fil: Borg, Michel. Department of Clinical Neurosciences (Movement Disorders); Canada. Fil: Fiksinski, Ania M. From The Dalglish Family 22q Clinic for Adults and Department of Psychiatry; Canada. Fil: Vergaelen, Elfi. Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, the Netherlands; Center for Human Genetics; Paises Bajos. Fil: Swillen, Ann. Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, the Netherlands; Center for Human Genetics; Paises Bajos. Fil: Vogels, Annick. Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, the Netherlands; Center for Human Genetics; Paises Bajos. Fil: Plate, Annika. KU Leuven, Belgium; Department of Neurology; Belgica. Fil: Perandones, Claudia. University of Munich, Germany; Scientific and Technological Coordination Unit of the ANLIS Directorate; Alemania. Fil: Gasser, Thomas. ANLIS Dr.C.G.Malbrán; Argentina. Fil: Clerinx, Kristien. Department of Neurology; Canada. Fil: Bourdain, Frédéric. AZ Turnhout, Antwerp, Belgium; Neurology Unit and Stroke Center; Bélgica. Fil: Mills, Kelly. Hôpital Foch, Suresnes, France; Movement Disorder Division; Francia. Fil: Williams, Nigel M. Johns Hopkins University, Baltimore, MD; and Psychological Medicine and Clinical Neurosciences; Estados Unidos. Fil: Wood, Nicholas W. Toronto Western Hospital and University of Toronto, Canada; Department of Molecular Neuroscience; Canada. Fil: Booij, Jan. Centre for People with Intellectual Disability, Haarlem; Department of Nuclear Medicine; Paises Bajos. Fil: Lang, Anthony E. Division of Neurology, Department of Medicine; Canada. Fil: Bassett, Anne S. From The Dalglish Family 22q Clinic for Adults and Department of Psychiatry; Canada. |
URI: | http://sgc.anlis.gob.ar/handle/123456789/610 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993183/ |
DOI: | 10.1212/WNL.0000000000005660 | Rights: | Open Access Creative Commons Attribution 4.0 International License |
Appears in Collections: | Publicaciones CeNaGeM |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
10.1212_WNL.0000000000005660.pdf | Artículo en inglés | 822.27 kB | Adobe PDF | View/Open |
Page view(s)
96
checked on Oct 15, 2024
Download(s)
7
checked on Oct 15, 2024
Google ScholarTM
Check
Altmetric
Altmetric
This item is licensed under a Creative Commons License