ArticleMedicine2018
A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report.
Article in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Clinical features and genetic spectrum of Chinese patients with hereditary spastic paraplegia: A 14-year study.Frontiers in genetics · 2023Article
- Case report: A novelFrontiers in genetics · 2023Article
- SPG8 mutations in Italian families: clinical data and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion.Science signaling · 2020Article
- Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.Cerebellum (London, England) · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleWe report a case of Spastic paraplegia 8 (SPG8) with a novel mutation of KIAA0196 gene. PATIENTS CONCERNS: A 12-year-old boy presented as ankle sprained, lower limb stiffness, abnormal gait since he was 5 years old. DIAGNOSES: The next generation sequence showed a novel c.1128delG (p.L376fs) mutation in KIAA0196 gene, the electromyography showed the pyramidal tract conduction dysfunction and deep sensory conduction abnormalities of lower limbs without motor neuron damage. The diagnose was SPG8.
interventionsPatient was gaven Baclofen treatment (30 mg/day, orally). OUTCOMES: At one year follow up, his symptoms didn't improved. LESSONS: We describe a novel KIAA0196 c.1128del.G (p.L376fs) mutation in a Chinese patient with SPG8. To our knowledge, it's the first frame delete mutation causing shift mutation of KIAA0196 gene, resulting in the earliest onset of SPG8 in the world. Gene sequencing is a powerful diagnostic tool to identify a causal mutation in genetically heterogeneous HSP.
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