Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.

Background: Parkinson's disease (PD) is a common neurodegenerative disorder of unknown etiology. The characteristic α-synuclein aggregation of PD is also a feature of Sanfilippo syndrome, a storage disorder caused by α-N-acetylglucosaminidase (NAGLU) gene mutations. We explored genetic links between these disorders and studied the pathology of Sanfilippo syndrome to investigate a common pathway toward α-synuclein aggregation.

Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disorder, characterised by cognitive decline and attentional impairment. Recently, variation in CHRNA4 (rs1044396) has been shown to affect visual and auditory function, affecting speed and attention, in healthy adults. An association between CHRNA4 variation and PD has not been shown.

Executive dysfunction and attention contribute to gait interference in 'off' state Parkinson's Disease.

Motor and cognitive processes are required for successful 'real world' walking. We explored the specific contribution of motor function, executive function, and attention to functional gait performance in people with Parkinson's Disease (PD) when 'off' medication. Twenty-nine people with PD wearing an accelerometer were tested in their home whilst walking under four task conditions.

Predicting the cost of Parkinson's disease.

The degenerative nature of Parkinson's disease (PD) suggests that it will lead to high levels of resource use. This study measures service use and costs for a representative community sample of PD patients and identifies cost predictors. Patients were identified from general practices and were interviewed twice, separated by a 12-month interval.

Clinical phenotype of subjects with Parkinson's disease and orthostatic hypotension: autonomic symptom and demographic comparison.

The objective of this study was to characterize the phenotypic associations of orthostatic hypotension (OH) in Parkinson's disease (PD). One hundred fifty-nine subjects with PD underwent assessment including autonomic symptom severity scoring, disease-specific rating scales, and measurement of postural blood pressure response. Symptoms of autonomic impairment weakly correlated with disease duration and severity.

Orthostatic hypotension in Parkinson's disease: association with cognitive decline?

Background: Orthostatic hypotension is common in Lewy body disorders and may be related to disease progression and the spread of Lewy body pathology. We therefore hypothesize that PD patients with orthostatic hypotension (OH) have a different cognitive profile compared to PD patients without OH.

Methods: This cross-sectional study included 175 PD patients.

Allelic variation of a functional polymorphism in the serotonin transporter gene and depression in Parkinson's disease.

A genetic susceptibility to depression in PD, acting via the serotonergic system, has been suggested. We examined the influence of allelic variation (L/S) in a functional polymorphism in the serotonin transporter (5-HTTLPR) gene upon mood in 108 PD patients and 82 controls. Using a logistic regression model we found no evidence for an association between 5-HTTLPR genotypes, or the presence of the S allele, and depression.

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

There is increasing evidence that genetic variants of mitochondrial DNA have an important role in the cause of idiopathic Parkinson's disease. We determined the mitochondrial DNA haplogroup of 455 Parkinson's disease cases, 185 Alzheimer's disease cases, and 447 healthy English control subjects. The UKJT haplogroup cluster was associated with a 22% reduction in population-attributable risk for Parkinson's disease.