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

Neurology
Erik BootInternational Research Group on 22q11.2DS-associated Parkinson's Disease

Abstract

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. 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). 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%). Major clinical characteristics and response to standard treatments appear comparable in 22q11.2DS-associated PD to those in idiopathic ...Continue Reading

References

Oct 26, 1999·Archives of General Psychiatry·K C MurphyM J Owen
Oct 7, 2005·American Journal of Medical Genetics. Part a·Anne S BassettMichael A Gatzoulis
Jun 27, 2006·Parkinsonism & Related Disorders·Annabella N SellbachGeorge D Mellick
Nov 30, 2006·Journal of Neurology·Eduardo Tolosa, Yaroslau Compta
Jul 27, 2007·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Erik BootThérèse van Amelsvoort
Nov 19, 2008·Parkinsonism & Related Disorders·Jan Booij, Remco J J Knol
May 14, 2008·Current Psychiatry Reports·Anne S Bassett, Eva W C Chow
Feb 28, 2009·Journal of Medical Genetics·A S BassettC Silversides
Aug 10, 2010·The American Journal of Psychiatry·Wai Lun Alan FungAnne Bassett
Feb 2, 2011·Schizophrenia Research·Marcel RomanosManfred Gerlach
May 17, 2011·The Journal of Pediatrics·Anne S BassettUNKNOWN International 22q11.2 Deletion Syndrome Consortium
Feb 9, 2012·Cold Spring Harbor Perspectives in Medicine·Christine Klein, Ana Westenberger
Apr 2, 2013·Expert Opinion on Drug Safety·José López-SendónJusto G de Yébenes
Oct 15, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Yuanchao ZhangTianzi Jiang
Mar 13, 2014·Frontiers in Neuroendocrinology·Glenda E GilliesZahi Qamhawi
Apr 17, 2014·Clinical Endocrinology·Evelyn Ning Man CheungAnne S Bassett
May 23, 2014·Expert Opinion on Pharmacotherapy·Leora L Borek, Joseph H Friedman
Aug 17, 2014·Neurology·Patricia de la RivaDaniel Weintraub
Nov 26, 2014·Proceedings of the National Academy of Sciences of the United States of America·Hilal Unal GulsunerAyse B Tekinay
Jan 9, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wai Lun Alan FungAnne S Bassett
Feb 17, 2015·American Journal of Medical Genetics. Part a·Erik BootAnne S Bassett
Apr 24, 2015·Lancet·Lorraine V Kalia, Anthony E Lang
May 20, 2015·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Ann Swillen, Donna McDonald-McGinn
Oct 17, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Ronald B PostumaGünther Deuschl
Feb 3, 2016·Internal Medicine·Mitsuaki OkiHirofumi Kusaka
Jan 1, 2015·Nature Reviews. Disease Primers·Donna M McDonald-McGinnAnne S Bassett
Jan 26, 2017·The New England Journal of Medicine·Esther Lopez-RiveraSimone Sanna-Cherchi
Feb 13, 2017·American Journal of Medical Genetics. Part a·Elfi VergaelenAnn Swillen
Mar 23, 2017·Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery·E VerheijH G X M Thomeer
Mar 24, 2017·Nature Reviews. Disease Primers·Werner PoeweAnthony E Lang
Apr 4, 2017·Brain : a Journal of Neurology·Nancy J ButcherAnne S Bassett
Apr 28, 2017·Epilepsia·Robert G WitherDanielle M Andrade

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Citations

Aug 14, 2019·American Journal of Medical Genetics. Part a·Janna de BoerJanneke Zinkstok
Feb 7, 2020·Aging Clinical and Experimental Research·Giulia GentileSebastiano Cavallaro
Dec 5, 2019·Brain : a Journal of Neurology·Hugo Morales-BriceñoVictor S C Fung
May 10, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Erik BootAnne S Bassett
Feb 13, 2019·Movement Disorders Clinical Practice·Erik BootConnie Marras
Aug 14, 2020·International Journal of Molecular Sciences·C Alejandra Morato TorresBirgitt Schüle
Jul 10, 2019·Movement Disorders Clinical Practice·Lais Machado de OliveiraRubens Gisbert Cury
Nov 1, 2018·American Journal of Medical Genetics. Part a·Bernice E MorrowPeter J Scambler
Nov 17, 2020·Frontiers in Neurology·Lamei YuanHao Deng
Jul 6, 2019·Parkinsonism & Related Disorders·Nicki Niemann, Joseph Jankovic
Jan 9, 2021·EBioMedicine·Haruhisa Inoue
Aug 10, 2019·The Lancet. Psychiatry·Janneke R ZinkstokTherese A M J van Amelsvoort
Feb 23, 2021·Human Brain Mapping·Ida E SønderbyUNKNOWN ENIGMA 22q11.2 Deletion Syndrome Working Group
Jun 1, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Vanessa CarvalhoLeonor Correia Guedes
Aug 28, 2021·International Journal of Molecular Sciences·Kathleen RooneyPaolo Prontera

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