Dos Santos Mendes Rita, do Valle Daniel Almeida, Dos Santos Bara Tiago, Furlin Vanessa, da Silva Zeny Michelle, Schmitz Ferreira Santos Mara Lúcia, Cordeiro Mara L
Faculdades Pequeno Principe, Curitiba, Brazil.
Hospital Pequeno Príncipe, Curitiba, Brazil.
Front Neurol. 2025 Feb 26;16:1542310. doi: 10.3389/fneur.2025.1542310. eCollection 2025.
Niemann-Pick type C (NPC) disease is a rare neurodegenerative disorder with a wide spectrum of clinical manifestations and genetic variability. This cross-sectional study aimed to comprehensively describe the neuropsychological impact of NPC and investigate its correlation with specific genotypes.
Eight patients from six unrelated families were included in this study. Their age at symptom onset ranged between 2 and 16 years, with all patients presenting with ataxia, dysarthria, and cognitive impairment. Following the initiation of miglustat treatment, five patients showed a decrease in the Scale for the Assessment and Rating of Ataxia (SARA) score, whereas three demonstrated subsequent increases. Five patients underwent brain magnetic resonance imaging scans, revealing white matter abnormalities and/or brain volumetric reduction in three cases. Despite the small sample size, the overall cognitive performance of the cohort was significantly below the average. The Family Environment Scale highlighted positive structural patterns, particularly regarding Personal Growth and System Maintenance. Genetic analysis identified five mutations in the gene that correlated with the severity of impairments and clinical outcomes.
This study indicated a consistent association between cognitive and behavioral impairments, with severity correlating with age and specific genetic variants. Notably, one subgroup showed a higher prevalence of psychotic and behavioral symptoms, suggesting a potential link with specific genetic variants.
尼曼-匹克C型（NPC）病是一种罕见的神经退行性疾病，临床表现多样，具有遗传变异性。这项横断面研究旨在全面描述NPC病对神经心理的影响，并研究其与特定基因型的相关性。
本研究纳入了来自6个无亲缘关系家庭的8名患者。他们的症状起始年龄在2至16岁之间，所有患者均表现为共济失调、构音障碍和认知障碍。在开始服用米格鲁司他治疗后，5名患者的共济失调评估与评分量表（SARA）得分下降，而3名患者随后得分上升。5名患者接受了脑磁共振成像扫描，其中3例显示白质异常和/或脑容量减少。尽管样本量较小，但该队列的总体认知表现显著低于平均水平。家庭环境量表突出了积极的结构模式，特别是在个人成长和系统维持方面。基因分析在该基因中鉴定出5种突变，这些突变与损伤严重程度和临床结果相关。
本研究表明认知和行为障碍之间存在一致的关联，严重程度与年龄和特定基因变异相关。值得注意的是，一个亚组的精神病性和行为症状患病率较高，提示可能与特定基因变异有关。
