Bing-Wen Soong

TL;DR: The diagnosis of idiopathic paroxysmal kinesigenic dyskinesia (PKD) can be made based on historical features, and the diagnostic scheme may allow better focus in the search for the PKD gene(s).

TL;DR: In this article, the authors proposed the following diagnostic criteria for idiopathic paroxysmal kinesigenic dyskinesia (PKD): identified trigger for the attacks (sudden movements), short duration of attacks (<1 minute), lack of loss of consciousness or pain during attacks, antiepileptic drug responsiveness, exclusion of other organic diseases, and age at onset between 1 and 20 years if there is no family history.

TL;DR: Four truncating mutations involving the gene PRRT2 in the vast majority of well-characterized families with PKD/IC are identified, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKd/IC.

TL;DR: Results indicate means to suppress oxidative damage or to restore mitochondrial functions may be beneficial to HD patients and plasma MDA may be used as a potential biomarker to test treatment efficacy in the future, if confirmed in a larger, longitudinal study.

TL;DR: Analysis of the neurologic symptomatology in 22 patients with Niemann-Pick disease type C revealed 3 phenotypes: an early-onset, rapidly progressive form associated with severe hepatic dysfunction and psychomotor delay during infancy and later associated with dementia and, variably, seizures and extrapyramidal deficits.