Page 90 - Demo

Chapter 288sTable 2. continuedStudy specifications Patient characteristicsSearch date and study numberFirst Author Year of publication Journal Publication typeCountries of studyStudy design Study designNumber of subjects with parkinsonismAvailable for subgroup with parkinsonismAge (y)Sex (ratio male: total)Specific genetic diagnosis13 Clot191 2009 Brain Article France, Ireland, Switzerlandcohort prospective 4:5 yes x=14.3 1:4 Dopa-responsive dystonia (TH(n=3); SPR (n=1))14 Ng192 2012 J inherit metab dis Abstract U.K. case series retrospective 1:5 no r: 2-9m unknown Dopamine transporter deficiency syndrome/ SLC6A315 Lai193 1989 Arch neurol Article U.S.A. cohort prospective 10:49 yes x=54 8:10 Down syndrome16 Vieregge194 1991 J neurol neurosur ps Article Germany cohort crosssectional5:14 no x=59.8 ±6.7 34:54 Down syndrome17 Fasano195 2014 Neurology Letter Canada cohort prospective 11:12 yes x=28.1(r: 20-43)4:12 Dravet syndrome18 Utari196 2010 J neurodevelop disord Article U.S.A. cohort retrospective 4:62 no x=49.7 ± 8.04:4 Fragile X syndrome19 Gitiaux197 2008 Movement disord Article France cohort prospective 4:16 yes 21 3:4 Glutaric aciduria type 120 Ruottinen198 1997 J neurol neurosur ps Article Finland casecontrolcrosssectional8:9 no 19.1 8:9 juvenile neuronal ceroid lipofuscinosis21 Aberg199 2000 Neurology Article Finland casecontrolcrosssectional?:17 no unknown unknown juvenile neuronal ceroid lipofuscinosis22 Aberg200 2001 Neurology Article Finland casecontrolexperimental ?:21 no x=15 at start treatment9:21 juvenile neuronal ceroid lipofuscinosis23 Hunter201 1969 Brit j psychiat Article U.K. casecontrolcrosssectional3:16 no x=37.6±13.7 (r: 17-60)16:16 Klinefelter syndrome24 Madubata202 2015 Genet med Article U.S.A. casecontrolretrospective 7:8579 yes x=56±5.2 4:7 Neurofibromatosis type I25 Luoma203 2004 Lancet Article Finland case series retrospective 13:23 yes x= 58.9 (r:40-75)6:13 POLG26 Orrico204 2000 FEBS lett Letter Italy case series retrospective 4:12 yes r:27-40 4:4 Rett syndrome/ MECP227 FitzGerald205 1990 Movement disord Article U.S.A. cohort prospective ±13:32 no r:30m-28y 0:13 Rett syndrome/ MECP228 Kara206 2016 Brain Article United Kingdomcohort crosssectional5:30 no x=14.3(r 4-27)unknown Spastic paraplegia type 1129 Zouari207 2009 J neurol sci Abstract Tunisia case series retrospective 1:5 no 27.5 unknown Spastic paraplegia type 1130 Korvatska208 2013 Hum Mol Genet Article U.S.A. case series retrospective 5:5 no r:14-58 5:5 X-linked parkinsonism with spasticity / ATP6AP2a No additional studies meeting inclusion criteria were found with the search on June 15th, 2021.Green: identified through cross-reference check. Brown: overlap in study population with otherstudies but additional information provided (patients were only included once in the review). Abbreviations: U.S.A.=United States of America, U.K.=United Kingdom, y=years, m=months, M=median, r=range, x=mean with standard deviation.