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

Table 2 Comparison of patients with different clinical subtypes of PLAN

Characteristics	Dystonia-Parkinsonism N = 14	Early-onset PD N = 17	HSP N = 3	Ataxia N = 1	P-value
Age at onset, years	21.7 ± 3.9	27.2 ± 5.1	46.0 ± 23.5	30	0.10
Age at examination, years	32.5 ± 4.9	33.7 ± 8.1	N.A.	31	0.26
Sex, male	5 (35.7%)	10 (58.8%)	1 (33.3%)	0	0.38
Main symptoms and signs
Parkinsonism	14 (100.0%)	17 (100.0%)	0	0	1.00
Dystonia	13 (92.8%)	2 (11.8%)	0	0	< 0.001**
Pyramidal sign	11 (78.6%)	8 (47.1%)	3 (100%)	1	0.32
Cognitive decline	9 (64.3%)	10 (58.8%)	1 (33.3%)	0	0.91
Depression/Anxiety	4 (28.6%)	7 (41.2%)	1 (33.3%)	1	0.78
Psychosis	4 (28.6%)	6 (35.3%)	0	0	0.93
Brain MRI findings
Cortical atrophy	9 (64.3%)	8 (47.1%)	0	0
Cerebellar atrophy	3 (21.4%)	1 (5.9%)	1 (33.3%)	1	0.03*
Hypo-intensity in GP	1 (7.1%)	1 (5.9%)	0	0	0.98

Data are the number (%) or the mean ± SD. PLAN, Phospholipase A2 group VI-associated neurodegeneration; PD, Parkinson’s disease; HSP, hereditary spastic paraparesis; MRI, magnetic resonance imaging; GP, globus pallidus. **P < 0.05; **P < 0.01. P-values that compare individual characteristics between groups with dystonia-parkinsonism and early-onset PD 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

ISSN: 1471-2377