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Table 1 Clinical, genetic, and imaging characteristics of patients with genetically confirmed adult-onset PLAN in the literature

From: Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review

Author, yearPatientEthnicityGenotypeTypeSexAAOInitial symptomsMain symptoms during examinationMRI
EPSDystoniaPyramidal signsAtaxiaPsychiatric
Homozygous p.D331Y mutations (N = 5)
Shi et al. 2011 [6]P1ChineseHomo c.991G > T (p. D331Y)EOPDM37Gait disturbance+nl
Xie et al. 2015 [7]PAChineseHomo c.991G > T (p. D331Y)EOPDM36Gait disturbance+nl
 PBChineseHomo c.991G > T (p. D331Y)EOPDM36Right hand tremor+nl
This studyP2ChineseHomo c.991G > T (p. D331Y)EOPDF30Slowing gait+D, P, Anl
 P3ChineseHomo c.991G > T (p. D331Y)EOPDF26Right leg clumsiness++D, Anl
Compound heterozygous p.D331Y/ other mutations (N = 5)
Lu et al. 2012 [8]P3ChineseCompound hetero c.991G > T (p. D331Y)/c.1077G > A (M358IfsX)DPF19Unsteadiness and bradykinesia+++P,CCoA, CeA
Chen et al. 2018 [9]P3ChineseCompound hetero c.991G > T(p.D331Y)/c.1982C > TDPM29Walking difficulty++CeA
 P4ChineseCompound hetero c.991G > T(p.D331Y)/ c.2218G > A (p.G740R)HSPF31Gait disturbance++CeA
Ji et al. 2019 [10]P1ChineseCompound hetero c.991G > T (D331Y)/c.1648delCAtaxiaF30Imbalance++DCeA
This studyP1ChineseCompound hetero c.991G > T (p. D331Y)/c.1077G > A (M358IfsX)DPM18Depression and psychosis++D, P, CCoA, CeA
Homozygous Mutations other than p.D331Y (N = 17)
et al., 2008 [3]
P1 of F1IndianHomo c.2222G > A (p.R741Q)DPF26Cognitive decline+++D, CCoA
 P1 of F2PakistaniHomo c.2239C > T (p.R747W)DPF18Foot drag+++CCoA
Sina et al. 2009 [11]P1IranianHomo c.C1894T (p.R632W)DPM25Foot drag+++CCoA
 P2IranianHomo c.C1894T (p.R632W)DPM22Foot drag+++CCoA
 P3IranianHomo c.C1894T (p.R632W)DPF21Foot drag++++CCoA
Agarwal et al., 2012 [12]P1ScandinavianHomo c.G238A (p.A80T)EOPDF22Depression+++D, A, CI
Virmani et al., 2014 [13]P1IndianHomo c.2222G > A (p.R741Q)DPF25Depression and psychosis+++D, PCoA
 P2IndianHomo c.2222G > A (p.R741Q)DPF22Depression+++CoA
et al. 2015 [14]
PItalianHomo c.C1547T (p.A516W)DPF27Stiff leg sensation+++CI
Giri et al. 2016 [15]PTurkishHomo c.2239C > T (p.R747W)EOPDF27Left limb slowness+D,P,CCoA
Ozes et al. 2017 [16]P2TurkishHomo c.2239C > T (p.R747W)HSPM21Scissoring gait++I
Koh et al. 2018 [17]D II-3JapaneseHomo c.1904G > A (p.R635Q)HSPF66Gait impairment++nl
et al. 2018 [18]
P1 of F1Saudi ArabianHomo c.2222G > A (p.R741Q)EOPDF26Depression, bradykinesia++D, CCoA
 P2 of F1Saudi ArabianHomo c.2222G > A (p.R741Q)EOPDM22Depression, tremor++D, CCoA
 P3 of F1Saudi ArabianHomo c.2222G > A (p.R741Q)EOPDF23Bradykinesia++CCoA
 P1 of F2Saudi ArabianHomo c.2222G > A (p.R741Q)EOPDM25Cognitive decline++CCoA
Rohani et al. 2018 [19]PSaudi ArabianHomo p. Ala681Cysfs*92DPM18Bradykinesia, tremor+++Pnl
Compound Heterozygous mutations other than p.D331Y (N = 8)
Yoshino et al. 2010 [20]PAJapaneseCompound hetero c.C216A (p. p.F72L) /c.G1904A (p.R635Q)EOPDF20Resting tremor, unsteady gait+D,P,CCoA, I
 PB1JapaneseCompound hetero c.C1354T (p.Q452X) /c.G1904A (p.R635Q)EOPDM25Bradykinesia, gait disturbance+CCoA
 PB2JapaneseCompound hetero c.C1354T (p.Q452X) /c.G1904A (p.R635Q)EOPDM30Bradykinesia, gait disturbance+P,CCoA
Bower et al., 2011 [21]P1EuropeanCompound hetero c.C4A (p.Q2K)/Del Ex 3 (pL71_S142del)DPF18Depression+++DGP
Kim et al. 2015 [22]P1KoreanCompound hetero c.G1039A (p.G347R) /c.C1670T (p.S557L)DPF22Unsteady gait and falls++++CCeA, I
et al. 2017 [23]
P1CaucasianCompound hetero c.109C > T (p.R37X)/ c.2321G > T (p.Ser774Iso)EOPDM23Depression and anxiety++D,P,Anl
 P2CaucasianCompound hetero c.758G > T (Gly253Val)/c.2341G > A (Ala781Thr)EOPDM27Left leg tremor and anxiety++P,A,Cnl
Chen et al.2018 [9]P2ChineseCompound heteroc.668C > T (p.P223L) /c.1915G > A(p.A639T)EOPDM27Walking difficulty++CeA, GP, I
  1. Abbreviations: +, present; −, absent or not reported; F1 family 1; P1 patient 1; DP dystonia-parkinsonism; EOPD early-onset Parkinson’s disease; HSP hereditary spastic hemiplegia; AAO age at onset; EPS extrapyramidal sign; MRI magnetic resonance imaging; D depression; P psychosis; A anxiety; C cognitive decline; CoA Cortical atrophy; CeA Cerebellar atrophy; GP T2- hypointensity in globus pallidus; I Iron accumulation; nl normal; hypo hypometabolism; NA not available