Pharmacogenomic (PGx) information can guide drug and dose selection, optimize therapy outcomes, and/or decrease the risk of adverse drug events (ADEs). This report demonstrates the impact of a pharmacist-led medication evaluation, with PGx assisted by a ...
Nicole Marie Del Toro-Pagán +5 more
doaj +1 more source
Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at-risk observational study (PHAROS) [PDF]
Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused by a cytosine-adenine-guanine ( CAG) triplet repeat expansion in the Huntingtin gene which was discovered in 1993. The PHAROS study is a unique observational study
Eberly, Shirley W. +5 more
core +1 more source
Autonomic dysfunction and phenoconversion in idiopathic REM sleep behavior disorder
REM sleep behavior disorder (RBD) is a common finding among patients with synucleinopathies. We aimed to determine the degree of autonomic dysfunction in patients presenting with idiopathic RBD (iRBD), and the predictive value of autonomic dysfunction for phenoconversion to a defined neurodegenerative disease.We searched our electronic medical record ...
Stuart J, McCarter +7 more
openaire +3 more sources
Neurologic and psychiatric features of impending neurodegeneration in iRBD
Introduction: Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is linked to Parkinson’s disease and other alpha-synucleinopathies, but various subsets of iRBD may not carry equal risk (i.e., those with depression are at higher risk than
Daniel A. Barone +6 more
doaj +1 more source
Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update [PDF]
CYP2D6 and CYP2C19 polymorphisms affect the exposure, efficacy and safety of tricyclic antidepressants (TCAs), with some drugs being affected by CYP2D6 only (e.g., nortriptyline and desipramine) and others by both polymorphic enzymes (e.g., amitriptyline,
Bishop, Jeffrey R. +13 more
core +1 more source
Lipids under stress - a lipidomic approach for the study of mood disorders [PDF]
The emerging field of lipidomics has identified lipids as key players in disease physiology. Their physicochemical diversity allows precise control of cell structure and signaling events through modulation of membrane prop- erties and trafficking of ...
Antonny +114 more
core +1 more source
Similar Progression of Morphological and Metabolic Phenotype in R6/2 Mice with Different CAG Repeats Revealed by In Vivo Magnetic Resonance Imaging and Spectroscopy. [PDF]
BACKGROUND: Huntington's disease (HD) is caused by an unstable polyglutamine (CAG) repeat in the HD gene, whereby a CAG repeat length greater than ∼36 leads to the disease.
Morton, A Jennifer +2 more
core +1 more source
Biomarkers of conversion to alpha-synucleinopathy in isolated rapid-eye-movement sleep behaviour disorder [PDF]
Patients with isolated rapid-eye-movement sleep behaviour disorder (RBD) are commonly regarded as being in the early stages of a progressive neurodegenerative disease involving \u3b1-synuclein pathology, such as Parkinson's disease, dementia with Lewy ...
Adler, Charles H. +37 more
core +1 more source
Distinct brain atrophy progression subtypes underlie phenoconversion in isolated REM sleep behaviour disorder. [PDF]
Joza S +40 more
europepmc +2 more sources
Abstract Background Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a mutation in the huntingtin gene on chromosome 4, leading to progressive cognitive decline, motor impairment, and functional disability. Although balance impairment is recognized in HD, its onset and evolution with disease stage remain poorly ...
Japleen Kaur +6 more
wiley +1 more source

