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A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene
Individuals with hereditary spastic paraplegia (HSP) are known to present with a variety of symptoms, including intellectual disability, cognitive decline, parkinsonism, and epilepsy. We report here our experience of treating a family with consanguinity, including three patients with HSP-related sym...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8749458/ https://www.ncbi.nlm.nih.gov/pubmed/35036589 http://dx.doi.org/10.1016/j.ensci.2021.100391 |