A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report

Medicine
Limin MaJiewen Zhang

Abstract

We report a case of Spastic paraplegia 8 (SPG8) with a novel mutation of KIAA0196 gene. A 12-year-old boy presented as ankle sprained, lower limb stiffness, abnormal gait since he was 5 years old. 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. Patient was gaven Baclofen treatment (30 mg/day, orally). At one year follow up, his symptoms didn't improved. 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.

References

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Jan 7, 2010·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·T GasserUNKNOWN EFNS
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Citations

Dec 10, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Federica GinanneschiFilippo Maria Santorelli
Jun 30, 2021·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·G E RudenskayaO P Ryzhkova

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