Journal of neurology, neurosurgery, and psychiatry
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The PREDICT-PD study aims to identify increased risk of Parkinson''s disease (PD) using online assessments of previously identified risk and early features of PD and an evidence-based scoring algorithm. We sought to determine whether higher risk participants (defined as those above the 15th centile of risk estimates) were more likely to have mild parkinsonian signs compared with lower risk participants. ⋯ The PREDICT-PD algorithm identifies a population with an increased rate of motor disturbances.
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J. Neurol. Neurosurg. Psychiatr. · Mar 2017
Familial gain-of-function Nav1.9 mutation in a painful channelopathy.
Gain-of-function mutations in Nav1.9 have been identified in three families with rare heritable pain disorders, and in patients with painful small-fibre neuropathy. Identification and functional assessment of new Nav1.9 mutations will help to elucidate the phenotypic spectrum of Nav1.9 channelopathies. ⋯ This study expands the spectrum of heritable pain disorders linked to gain-of-function mutations in Nav1.9, strengthening human validation of this channel as a potential therapeutic target for pain.