Osteoporosis Associated with SCN8A Mutation
Abstract
A 26-year-old man was evaluated for an elevated serum bone-specific alkaline phosphatase (BSAP). His medical history was significant for a neurodevelopmental disorder with generalized epilepsy. Symptoms included chronic pain in the ankles, hands, and right ribs, and a progressive decline in physical activity. Vitamin D deficiency was discovered, but the elevated BSAP persisted despite vitamin D replacement. Imaging studies reported diffusely increased scintigraphic uptake in the axial and appendicular skeleton, and low bone mineral density, but no radiographic sclerotic or lytic lesions. Genetic screening revealed a heterozygous pathogenic variant in the sodium voltage-gated channel α subunit 8 gene (SCN8A) (c.2924 T>A; p.L975*). Loss-of-function mutations in SCN8A are responsible for neurologic disease and bone loss. Expression analysis revealed that SCN8A was present in human osteoblasts and osteocytes, but not in osteoclasts, suggesting that the voltage-gated sodium channel, Nav1.6, encoded by SCN8A, may have direct actions in bone. The patient was subsequently prescribed alendronate, resulting in a lower alkaline phosphatase and symptomatic improvement in bone pain.
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Development of a crushable foam model for human trabecular bone
- Data-driven motion compensation in HR-pQCT.
- Modeling of structure, quality, and function in the orthodontic patient
- Exploring the mechanism of Heidihuang Pill in the treatment of osteoporosis based on network pharmacology, molecular docking, and experimental validation
- Effect of fabric on the accuracy of computed tomography-based finite element analyses of the vertebra
- Use of interventions involving virtual reality tasks during the climacteric: a systematic review
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.