Connie Marras1. 1. Morton and Gloria Shulman Movement Disorders Centre and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada.
Abstract
PURPOSE OF REVIEW: Previously, outstanding questions have been identified including the relationship of proposed subtypes to etiology, underlying biology, and prognosis. This situation presents an opportunity for major developments in the field. The review summarizes the progress made over the past 1-2 years. RECENT FINDINGS: The etiologic, physiological, and clinical differences between tremor dominant, postural instability gait disorder, and indeterminate phenotypes have been further explored, finding genetic influences, functional imaging and clinical differences. New cluster analyses suggest that nonmotor features are important aspects of Parkinson's disease subtypes, but there was little association found between tremor-dominant /postural instability gait disorder phenotype and nonmotor symptoms. In the cognitive realm, empirically derived subtypes of PD-MCI did not map well onto cognitive subtypes derived using a data-driven approach. In data-driven subtype research, important survival differences between subtypes were identified within the PROPARK database. SUMMARY: It will be important to revisit PD-MCI classification to consider subtyping based upon data that relate cognitive phenotype to prognosis. Given the traction that traditional motor subtyping has had in the field it would be of value to consider how nonmotor symptom clusters can be used with or alongside the motor subtypes. Finally, incorporating subtypes into clinical trials remains a significant gap in Parkinson's disease research.
PURPOSE OF REVIEW: Previously, outstanding questions have been identified including the relationship of proposed subtypes to etiology, underlying biology, and prognosis. This situation presents an opportunity for major developments in the field. The review summarizes the progress made over the past 1-2 years. RECENT FINDINGS: The etiologic, physiological, and clinical differences between tremor dominant, postural instability gait disorder, and indeterminate phenotypes have been further explored, finding genetic influences, functional imaging and clinical differences. New cluster analyses suggest that nonmotor features are important aspects of Parkinson's disease subtypes, but there was little association found between tremor-dominant /postural instability gait disorder phenotype and nonmotor symptoms. In the cognitive realm, empirically derived subtypes of PD-MCI did not map well onto cognitive subtypes derived using a data-driven approach. In data-driven subtype research, important survival differences between subtypes were identified within the PROPARK database. SUMMARY: It will be important to revisit PD-MCI classification to consider subtyping based upon data that relate cognitive phenotype to prognosis. Given the traction that traditional motor subtyping has had in the field it would be of value to consider how nonmotor symptom clusters can be used with or alongside the motor subtypes. Finally, incorporating subtypes into clinical trials remains a significant gap in Parkinson's disease research.
Authors: Aaron E Bond; Binit B Shah; Diane S Huss; Robert F Dallapiazza; Amy Warren; Madaline B Harrison; Scott A Sperling; Xin-Qun Wang; Ryder Gwinn; Jennie Witt; Susie Ro; W Jeffrey Elias Journal: JAMA Neurol Date: 2017-12-01 Impact factor: 18.302
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Authors: Lan Luo; Howard Andrews; Roy N Alcalay; Fernanda Carvalho Poyraz; Amelia K Boehme; Jennifer G Goldman; Tao Xie; Paul Tuite; Claire Henchcliffe; Penelope Hogarth; Amy W Amara; Samuel Frank; Margaret Sutherland; Catherine Kopil; Anna Naito; Un Jung Kang Journal: Parkinsonism Relat Disord Date: 2019-06-23 Impact factor: 4.891
Authors: Isabel Alfradique-Dunham; Rami Al-Ouran; Rainer von Coelln; Cornelis Blauwendraat; Emily Hill; Lan Luo; Amanda Stillwell; Emily Young; Anita Kaw; Manuela Tan; Calwing Liao; Dena Hernandez; Lasse Pihlstrom; Donald Grosset; Lisa M Shulman; Zhandong Liu; Guy A Rouleau; Mike Nalls; Andrew B Singleton; Huw Morris; Joseph Jankovic; Joshua M Shulman Journal: Neurol Genet Date: 2021-01-28