ArticleFrontiers in human neuroscience2025
Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A.
Article in Frontiers in human neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objectives: To investigate the genetic etiology of a familial case with spastic paraplegia. Methods: Neurological 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. Results: A 45-year-old man was initially diagnosed with spastic diplegic cerebral palsy in early childhood. He underwent multiple orthopedic interventions for lower extremities spasticity and progressive gait disturbance. His son developed similar neurological symptoms at 2-years of age. Despite unremarkable initial work-up, their relatively similar slowly progressive phenotype was suggestive of hereditary spastic paraplegia (HSP). ES was performed for the son at age 11 years, followed by cascade single testing for the father, which revealed a heterozygous (monoallelic) likely pathogenic variant [NM_001244008.2: c.947G > A (p.Arg316Gln); chr2-240775862] in exon 10 of the Discussion:
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