Publications by authors named "O W Quarrell"
Article Synopsis
- - Juvenile Huntington's disease (JHD) features early motor symptoms like speech difficulties, rigidity, and dystonia in childhood, with cognitive decline typically evident through declining school performance.
- - JHD can be misdiagnosed as autism spectrum disorder or ADHD due to overlapping behavioral symptoms, and specific JHD symptoms include epilepsy, ataxia, and faster disease progression compared to adult-onset forms.
- - Diagnosis relies on clinical assessment, family history, and DNA analysis, with no current treatment guidelines available; future advancements may include better diagnostic markers like qualitative MRI and serum neurofilament light.
Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4. SUDC is rarer than SIDS, and although cardiogenetic testing (molecular autopsy) identifies an underlying cause in a fraction of SIDS, less is known about SUDC.
View Article and Find Full Text PDFPurpose: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. The full spectrum of clinical manifestations in relation to the genotypes is yet to be reported.
Methods: Genotype and phenotype data were collated and analyzed for 61 biallelic PIGN cases: 21 new and 40 previously published cases.