Arrhythmogenic calmodulin variants D131E and Q135P disrupt interaction with the L-type voltage-gated Ca channel (Ca1.2) and reduce Ca-dependent inactivation.

Aim: Long QT syndrome (LQTS) and catecholaminergic polymorphism ventricular tachycardia (CPVT) are inherited cardiac disorders often caused by mutations in ion channels. These arrhythmia syndromes have recently been associated with calmodulin (CaM) variants. Here, we investigate the impact of the arrhythmogenic variants D131E and Q135P on CaM's structure-function relationship.

Prevalence of Fatigue and Associations With Depression and Cognitive Impairment in Patients With CADASIL.

Background And Objectives: Fatigue is a common and disabling symptom in cerebrovascular disease and has been associated with white matter damage, but the underlying disease mechanisms are poorly understood. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic form of stroke and causes a cerebral small vessel disease arteriopathy with white matter ischemia. We determined the prevalence of fatigue in CADASIL, the factors associated with it, and its relationship with both depression and cognitive impairment.

Digital measurement of ocular microtremor in Parkinson's disease: Protocol for a pilot study to assess reliability and clinical validation.

Ocular microtremor (OMT) is a fixational eye movement that cannot be seen with the naked eye but is always present, even when the eye appears motionless/still. The link between OMT and brain function provides a strong rationale for investigation as there lies potential for its use as a biomarker in populations with neurological impairments. OMT frequency is typically 70-80Hz in healthy adults and research suggests that this will be reduced in those with neurological disease such as Parkinson's Disease (PD).