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Table 3 Comparison of patients with different PLAN-related genotypes

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

Characteristics

Homozygous p.D331Y mutations

N = 5

Compound heterozygous p.D331Y/ other mutations

N = 5

Homozygous

Mutations other than p.D331Y

N = 17

Compound Heterozygous

mutations other than p.D331Y

N = 8

P-value

Age at onset, years

33.0 ± 4.8

25.4 ± 6.3

23.2 ± 11.0

16.8 ± 9.9

0.23

Sex, male

2 (50.0%)

2 (40.0%)

6 (35.3%)

5 (62.5%)

0.41

Ethnicity

 Chinese

5 (100.0%)

5 (100.0%)

0

1 (12.5%)

< 0.001**

 East Asian

0

0

1 (4.8%)

4 (50.0%)

0.01*

 South Asian

0

0

4 (19.0%)

0

0.16

 Middle Eastern

0

0

14 (66.7%)

0

< 0.01**

 Caucasian

0

0

2 (9.5%)

3 (37.5%)

0.11

Main clinical subtypes

  Dystonia-parkinsonism

0

3 (60.0%)

9 (52.9%)

2 (25.0%)

0.07

  Early-onset PD

5 (100.0%)

0

6 (35.3%)

6 (75.0%)

0.01*

  HSP

0

1 (20.0%)

2 (11.8%)

0

0.78

  Ataxia

0

1 (20.0%)

0

0

0.68

  1. Data are the number (%) or the mean ± SD. PLAN, Phospholipase A2 group VI-associated neurodegeneration; PD, Parkinson’s disease; HSP, hereditary spastic paraparesis. **P < 0.05; **P < 0.01. P-values that compare individual characteristics between four groups with different genotypes were evaluated with an analysis of variance. Variables without a normal distribution were compared with the Kruskal-Wallis test, the non-parametric equivalent of the independent sample t-test