Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A
ObjectivesTo investigate the genetic etiology of a familial case with spastic paraplegia.MethodsNeurological examination, clinical and genetic work-up, including exome sequencing (ES), followed by targeted testing, were performed to determine the underlying etiology of the patients’ phenotype.Result...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Human Neuroscience |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fnhum.2025.1568511/full |
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