Valosin-containing-protein pathogenic variant p.R487H in Parkinson's disease.

We describe a 66-year-old woman with Parkinson's disease, carrying a known pathogenic missense variant in the Valosin-containing-protein (VCP) gene. She responded excellently to L-dopa, had no cognitive or motoneuronal dysfunction. Laboratory analyses and MRI were unremarkable. Genetic testing revealed a heterozygous variant in VCP(NM_007126.5), chr9 (GRCh3 7):g.35060820C > T, c.1460G > A p.Arg487His (p.R487H).

Serious psychological distress among persons with epilepsy based on the 2005 California Health Interview Survey.

PURPOSE: To compare the prevalence of self-reported serious psychological distress using the Kessler 6 (K6) in persons with a history of epilepsy (PWE) to those without epilepsy from a population-based survey. METHODS: Data were analyzed from adults aged >or=18 years (n = 43,020) who participated in the 2005 California Health Interview Survey (CHIS). RESULTS: California adults with a history of epilepsy, after controlling for demographics and comorbidities, reported higher rates of feeling nervous [odds ratio (OR) 2.22], feeling hopeless (OR 1.35), feeling restless (OR 2.07), feeling depressed (OR 3.14), and feeling worthless (OR 2.57), and reported that everything has been an effort (OR 2.28) in the last 30 days. The K6 score showed that serious psychological distress is more common in PWE (OR 2.24). After adjusting for demographics, comorbidities, and serious psychological distress, PWE are more likely to report having 14 or more physical, mental, and general unhealthy days in the last 30 days. DISCUSSION: PWE have significantly higher rates of serious psychological distress and poor health-related quality of life after controlling for demographics, comorbidities. These comorbid conditions need to be factored into any comprehensive treatment strategy for managing PWE to achieve optimum quality of life.

Comorbidity, health screening, and quality of life among persons with a history of epilepsy.

Previous population surveys outside the United States have found an increased prevalence of comorbid conditions in persons with epilepsy. However, the effect of comorbid conditions on health-related quality of life (HRQOL) has not been previously examined in the epilepsy literature from the United States. Results from the California Health Interview Survey (CHIS) indicate an increased prevalence of comorbid conditions in persons with a history of epilepsy compared to those without epilepsy. After controlling for demographics and comorbid conditions, persons with a history of epilepsy were significantly more likely to report poor HRQOL. Although seizure freedom should continue to be a primary clinical goal, optimal care should also include primary and secondary prevention of comorbid conditions, especially cardiovascular and pulmonary diseases. Prevention, early identification, and treatment of comorbid conditions may reduce mortality risk and improve health outcomes in persons with epilepsy.