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To describe the clinical characteristics and ATP7B gene mutation spectrum of neurologic Wilson’s disease (WD) patients in southwest China and to explore genotype-phenotype correlations.
A total of 74 patients with neurologic WD admitted to West China Fourth Hospital of Sichuan University between August 2023 and July 2024 were enrolled. Patient demographics, clinical manifestations, and ATP7B gene mutation features were collected. Patients were stratified by mutation type to analyze associations between p.R778L, p.P992L, and loss-of-function (LOF) mutations and common initial symptoms or age at onset. Group comparisons were performed using Mann-Whitney U test, Kruskal-Wallis H test, Chi-square tests, or Fisher’s exact test as appropriate.
The median age at onset among 74 neurologic WD patients was 17.0 years (15.0, 25.8). The most common initial symptoms were tremor (67.6%) and dysarthria (36.5%). At enrollment, the predominant clinical manifestations were dystonia (77.0%), dysarthria (75.7%) and tremor (74.3%), with 44 patients having progressed to cirrhosis. Significant age or gender-related differences were observed in both initial and current symptoms. Genetic analysis revealed that the most frequent pathogenic mutations were p.R778L (28.08%) and p.P992L (18.49%). A total of 44 distinct pathogenic mutation combinations were detected, with the most common being p.R778L/p.R778L (11.3%) and p.R778L/p.P992L (9.9%). Genotype-phenotype analysis showed that LOF mutations were associated with earlier age at onset and dysarthria. No statistically significant correlations were found between p.R778L, p.P992L mutations and clinical phenotypes.
Neurologic WD patients exhibit significant clinical heterogeneity. p.R778L and p.P992L are the most common pathogenic mutations, while LOF mutations correlate with earlier age at onset and dysarthria. Clinicians should remain vigilant toward diverse initial symptoms and multi-system involvement in neurologic WD patients, emphasize individualized treatment strategies, and prioritize ATP7B gene testing to optimize precision diagnosis.
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| 科 Family | 属数 Number of genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) | 属 Genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) |
|---|---|---|---|---|---|---|
| 鹅膏菌科Amanitaceae | 2 | 11 | 5.26 | 鹅膏菌属 Amanita | 10 | 4.78 |
| 小菇科 Mycenaceae | 2 | 12 | 5.74 | 丝盖伞属 Inocybe | 5 | 2.39 |
| 多孔菌科 Polyporaceae | 8 | 14 | 6.70 | 蜡蘑属 Laccaria | 5 | 2.39 |
| 红菇科 Russulaceae | 3 | 23 | 11.00 | 小皮伞属 Marasmius | 6 | 2.87 |
| 小菇属 Mycena | 11 | 5.26 | ||||
| 光柄菇属 Pluteus | 5 | 2.39 | ||||
| 红菇属 Russula | 17 | 8.13 | ||||
| 栓菌属 Trametes | 5 | 2.39 |
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