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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, year

Patient

Ethnicity

Genotype

Type

Sex

AAO

Initial symptoms

Main symptoms during examination

MRI

EPS

Dystonia

Pyramidal signs

Ataxia

Psychiatric

Homozygous p.D331Y mutations (N = 5)

Shi et al. 2011 [6]

P1

Chinese

Homo c.991G > T (p. D331Y)

EOPD

M

37

Gait disturbance

+

nl

Xie et al. 2015 [7]

PA

Chinese

Homo c.991G > T (p. D331Y)

EOPD

M

36

Gait disturbance

+

nl

 

PB

Chinese

Homo c.991G > T (p. D331Y)

EOPD

M

36

Right hand tremor

+

nl

This study

P2

Chinese

Homo c.991G > T (p. D331Y)

EOPD

F

30

Slowing gait

+

D, P, A

nl

 

P3

Chinese

Homo c.991G > T (p. D331Y)

EOPD

F

26

Right leg clumsiness

+

+

D, A

nl

Compound heterozygous p.D331Y/ other mutations (N = 5)

Lu et al. 2012 [8]

P3

Chinese

Compound hetero c.991G > T (p. D331Y)/c.1077G > A (M358IfsX)

DP

F

19

Unsteadiness and bradykinesia

+

+

+

P,C

CoA, CeA

Chen et al. 2018 [9]

P3

Chinese

Compound hetero c.991G > T(p.D331Y)/c.1982C > T

DP

M

29

Walking difficulty

+

+

CeA

 

P4

Chinese

Compound hetero c.991G > T(p.D331Y)/ c.2218G > A (p.G740R)

HSP

F

31

Gait disturbance

+

+

CeA

Ji et al. 2019 [10]

P1

Chinese

Compound hetero c.991G > T (D331Y)/c.1648delC

Ataxia

F

30

Imbalance

+

+

D

CeA

This study

P1

Chinese

Compound hetero c.991G > T (p. D331Y)/c.1077G > A (M358IfsX)

DP

M

18

Depression and psychosis

+

+

D, P, C

CoA, CeA

Homozygous Mutations other than p.D331Y (N = 17)

Paisa’n-Ruiz

et al., 2008 [3]

P1 of F1

Indian

Homo c.2222G > A (p.R741Q)

DP

F

26

Cognitive decline

+

+

+

D, C

CoA

 

P1 of F2

Pakistani

Homo c.2239C > T (p.R747W)

DP

F

18

Foot drag

+

+

+

C

CoA

Sina et al. 2009 [11]

P1

Iranian

Homo c.C1894T (p.R632W)

DP

M

25

Foot drag

+

+

+

C

CoA

 

P2

Iranian

Homo c.C1894T (p.R632W)

DP

M

22

Foot drag

+

+

+

C

CoA

 

P3

Iranian

Homo c.C1894T (p.R632W)

DP

F

21

Foot drag

+

+

+

+

C

CoA

Agarwal et al., 2012 [12]

P1

Scandinavian

Homo c.G238A (p.A80T)

EOPD

F

22

Depression

+

+

+

D, A, C

I

Virmani et al., 2014 [13]

P1

Indian

Homo c.2222G > A (p.R741Q)

DP

F

25

Depression and psychosis

+

+

+

D, P

CoA

 

P2

Indian

Homo c.2222G > A (p.R741Q)

DP

F

22

Depression

+

+

+

CoA

Malaguti

et al. 2015 [14]

P

Italian

Homo c.C1547T (p.A516W)

DP

F

27

Stiff leg sensation

+

+

+

C

I

Giri et al. 2016 [15]

P

Turkish

Homo c.2239C > T (p.R747W)

EOPD

F

27

Left limb slowness

+

D,P,C

CoA

Ozes et al. 2017 [16]

P2

Turkish

Homo c.2239C > T (p.R747W)

HSP

M

21

Scissoring gait

+

+

I

Koh et al. 2018 [17]

D II-3

Japanese

Homo c.1904G > A (p.R635Q)

HSP

F

66

Gait impairment

+

+

nl

Bohlega

et al. 2018 [18]

P1 of F1

Saudi Arabian

Homo c.2222G > A (p.R741Q)

EOPD

F

26

Depression, bradykinesia

+

+

D, C

CoA

 

P2 of F1

Saudi Arabian

Homo c.2222G > A (p.R741Q)

EOPD

M

22

Depression, tremor

+

+

D, C

CoA

 

P3 of F1

Saudi Arabian

Homo c.2222G > A (p.R741Q)

EOPD

F

23

Bradykinesia

+

+

C

CoA

 

P1 of F2

Saudi Arabian

Homo c.2222G > A (p.R741Q)

EOPD

M

25

Cognitive decline

+

+

C

CoA

Rohani et al. 2018 [19]

P

Saudi Arabian

Homo p. Ala681Cysfs*92

DP

M

18

Bradykinesia, tremor

+

+

+

P

nl

Compound Heterozygous mutations other than p.D331Y (N = 8)

Yoshino et al. 2010 [20]

PA

Japanese

Compound hetero c.C216A (p. p.F72L) /c.G1904A (p.R635Q)

EOPD

F

20

Resting tremor, unsteady gait

+

D,P,C

CoA, I

 

PB1

Japanese

Compound hetero c.C1354T (p.Q452X) /c.G1904A (p.R635Q)

EOPD

M

25

Bradykinesia, gait disturbance

+

C

CoA

 

PB2

Japanese

Compound hetero c.C1354T (p.Q452X) /c.G1904A (p.R635Q)

EOPD

M

30

Bradykinesia, gait disturbance

+

P,C

CoA

Bower et al., 2011 [21]

P1

European

Compound hetero c.C4A (p.Q2K)/Del Ex 3 (pL71_S142del)

DP

F

18

Depression

+

+

+

D

GP

Kim et al. 2015 [22]

P1

Korean

Compound hetero c.G1039A (p.G347R) /c.C1670T (p.S557L)

DP

F

22

Unsteady gait and falls

+

+

+

+

C

CeA, I

Wirth

et al. 2017 [23]

P1

Caucasian

Compound hetero c.109C > T (p.R37X)/ c.2321G > T (p.Ser774Iso)

EOPD

M

23

Depression and anxiety

+

+

D,P,A

nl

 

P2

Caucasian

Compound hetero c.758G > T (Gly253Val)/c.2341G > A (Ala781Thr)

EOPD

M

27

Left leg tremor and anxiety

+

+

P,A,C

nl

Chen et al.2018 [9]

P2

Chinese

Compound heteroc.668C > T (p.P223L) /c.1915G > A(p.A639T)

EOPD

M

27

Walking 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