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Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
The identification of two homozygous mutations affecting the PINK1 kinase domain in three consanguineous PARK6 families provide a direct molecular link between mitochondria and the pathogenesis of PD.
Consensus statement on the diagnosis of multiple system atrophy
Phenomenology and classification of dystonia: A consensus update
- A. Albanese, K. Bhatia, J. Teller
- Psychology, MedicineMovement disorders : official journal of the…
- 15 June 2013
An international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia provides a new general definition and proposes a new classification and encourages clinicians and researchers to use these innovative definitions and test them in the clinical setting on a variety of patients with Dystonia.
Rivastigmine for dementia associated with Parkinson's disease.
Rivastigmine was associated with moderate improvements in dementia associated with Parkinson's disease but also with higher rates of nausea, vomiting, and tremor; however, the differences between these two groups were moderate and similar to those reported in trials of rivastIGmine for Alzheimer's disease.
Bilateral deep brain stimulation in Parkinson's disease: a multicentre study with 4 years follow-up.
This first multicentre study assessing the long-term efficacy of either STN or GPi stimulation shows a significant and substantial clinically important therapeutic benefit for at least 3-4 years in a large cohort of patients with severe Parkinson's disease.
The impact of deep brain stimulation on executive function in Parkinson's disease.
In support of current models of Parkinson's disease, 'releasing the brake' on frontal function with DBS improved aspects of executive function and disruption of basal ganglia outflow during DBS impaired performance on tests requiring changing behaviour in novel contexts as predicted by Marsden and Obeso in 1994.
PINK1 mutations are associated with sporadic early‐onset parkinsonism
The hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism is supported, however, the pathogenetic significance of heterozygous Pink1 mutations still remains to be clarified.
Relief by botulinum toxin of voiding dysfunction due to benign prostatic hyperplasia: results of a randomized, placebo-controlled study.
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.
A large Sicilian family with four definitely affected members (the Marsala kindred) was identified, characterized by early-onset parkinsonism, with slow progression and sustained response to levodopa, and the Parkin-associated phenotype is broad, and some cases are indistinguishable from idiopathic PD.
Chronic subthalamic nucleus stimulation reduces medication requirements in Parkinson’s disease
A tradeoff between the optimal voltage and the severity of side effects made it possible to control parkinsonian signs effectively, and preliminary data indicate that functional inactivation of the STN may reduce the requirement for dopaminergic therapy in PD.