Germline mosaicism in a family with haploinsufficiency.

Haploinsufficiency of the methyl-CpG-binding domain protein 5 () gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral difficulties. Microdeletion of 2q23.1 is the most common cause of haploinsufficiency, although haploinsufficiency may also cause this genetic disorder.

Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.

Ataxia pancytopenia (ATXPC) syndrome due to gain-of-function pathogenic variants in the SAMD9L gene has been described in 38 patients to date. It is characterized by variable neurological and hematological phenotypes including ataxia, pyramidal signs, cytopenias, and hematological malignancies. Peripheral neuropathy with slowing of conduction velocities has been reported in only two affected individuals.

A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.

Objective: We studied a large Irish Caucasian pedigree with familial hemiplegic migraine (FHM) with the aim of finding the causative gene mutation.

Background: FHM is a rare autosomal-dominant subtype of migraine with aura, which is linked to 4 loci on chromosomes 19p13, 1q23, 2q24, and 1q31. The mutations responsible for hemiplegic migraine have been described in the CACNA1A gene (chromosome 19p13), ATP1A2 gene (chromosome 1q23), and SCN1A gene (chromosome 2q24).

Association between apolipoprotein E4 and cognitive decline in elderly adults.

Objective: To determine the influence of apolipoprotein E on cognitive decline in a cohort of elderly men and women.

Design: Prospective study.

Setting: Scotland, Ireland, and the Netherlands.

Clinical characteristics and outcome of patients diagnosed with psychogenic nonepileptic seizures: a 5-year review.

Objective: The goal of this article was to describe the clinical characteristics and outcomes of patients diagnosed with psychogenic nonepileptic seizures (PNES).

Methods: We conducted a retrospective review of patients diagnosed with PNES in a 5-year period.

Results: Fifty patients with PNES were identified, giving an estimated incidence of 0.

C-reactive protein and prediction of coronary heart disease and global vascular events in the Prospective Study of Pravastatin in the Elderly at Risk (PROSPER).

Background: The role of C-reactive protein (CRP) in predicting vascular events and response to statin therapy remains uncertain. Additional large prospective studies are required.

Methods And Results: Baseline CRP was related to risk over 3.

Plasma lipoproteins and apolipoproteins as predictors of cardiovascular risk and treatment benefit in the PROspective Study of Pravastatin in the Elderly at Risk (PROSPER).

Background: Statins are important in vascular disease prevention in the elderly. However, the best method of selecting older patients for treatment is uncertain. We assessed the role of plasma lipoproteins as predictors of risk and of treatment benefit in the PROspective Study of Pravastatin in the Elderly at Risk (PROSPER).

Late-onset neuroaxonal leucoencephalopathy with spheroids and vascular amyloid.

A 54-year-old man with a 7-year history of early-onset, slowly progressive dementia and motor impairment characterised by diffuse, non-enhancing white matter signal change. Neuropathologic examination demonstrated subcortical pigmentation with neuroaxonal spheroid formation, profound axonal loss with secondary myelin degeneration and widespread betaA4 immunopositivity involving meningeal and subcortical vessels. There was relative sparing of brain stem and cerebellar white matter.

Pravastatin in elderly individuals at risk of vascular disease (PROSPER): a randomised controlled trial.

Background: Although statins reduce coronary and cerebrovascular morbidity and mortality in middle-aged individuals, their efficacy and safety in elderly people is not fully established. Our aim was to test the benefits of pravastatin treatment in an elderly cohort of men and women with, or at high risk of developing, cardiovascular disease and stroke.

Methods: We did a randomised controlled trial in which we assigned 5804 men (n=2804) and women (n=3000) aged 70-82 years with a history of, or risk factors for, vascular disease to pravastatin (40 mg per day; n=2891) or placebo (n=2913).

A Prospective Study of Pravastatin in the Elderly at Risk (PROSPER): Screening Experience and Baseline Characteristics.

BACKGROUND: PROSPER was designed to investigate the benefits of treatment with pravastatin in elderly patients for whom a typical doctor might consider the prescription of statin therapy to be a realistic option. METHODS: The PROspective Study of Pravastatin in the Elderly at Risk (PROSPER) is a randomised, double blind, placebo-controlled trial to test the hypothesis that treatment with pravastatin (40 mg/day) will reduce the risk of coronary heart disease death, non-fatal myocardial infarction, and fatal or non-fatal stroke in elderly men and women with pre-existing vascular disease or with significant risk of developing this condition. RESULTS: In Scotland, Ireland, and the Netherlands, 23,770 individuals were screened, and 5,804 subjects (2,804 men and 3,000 women), aged 70 to 82 years (average 75 years) and with baseline cholesterol 4.