Clinical, genotypic, and neuropsychological profile in a series of patients with Niemann-Pick type C disease
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.
Authors
- Tiago dos Santos Bara (ORCID: https://orcid.org/0000-0003-3406-5833)
- Mara L. Cordeiro (ORCID: https://orcid.org/0000-0002-0235-8001)
- Daniel Almeida do Valle (ORCID: https://orcid.org/0000-0001-9005-6726)
- Michelle Silva Zeny (ORCID: https://orcid.org/0009-0006-6808-1144)
- Vanessa Furlin
- Rita Mendes (ORCID: https://orcid.org/0000-0002-0672-2958)
- Mara Lúcia Schmitz Ferreira Santos (ORCID: https://orcid.org/0000-0002-5253-988X)
Institutions
- University of California, Los Angeles (US)
- Hospital Erasto Gaertner (BR)
- Instituto de Tecnologia do Paraná (BR)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-02-26
- DOI
- https://doi.org/10.3389/fneur.2025.1542310
- Citations
- 2
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 2.33
Funders
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior