Lower levels of uric acid and striatal dopamine in non-tremor dominant Parkinson's disease subtype.

Parkinson's disease (PD) patients who present with tremor and maintain a predominance of tremor have a better prognosis. Similarly, PD patients with high levels of uric acid (UA), a natural neuroprotectant, have also a better disease course. Our aim was to investigate whether PD motor subtypes differ in their levels of UA, and if these differences correlate with the degree of dopamine transporter (DAT) availability.

GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.

The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson's disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S.

Low serum uric acid levels in progressive supranuclear palsy.

Introduction: Uric acid is a natural antioxidant, and it has been shown that low levels of uric acid could be a risk factor for the development of PD. Our aim was to investigate whether uric acid plays a role in PSP.

Methods: We carried out a cross-sectional study to compare serum uric acid levels between PSP patients, PD patients, and healthy controls.

GDNF gene is associated with tourette syndrome in a family study.

Background: Tourette syndrome is a disorder characterized by persistent motor and vocal tics, and frequently accompanied by the comorbidities attention deficit hyperactivity disorder and obsessive-compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate the association of 28 candidate genes, including genes related to synaptic neurotransmission and neurotrophic factors, with Tourette syndrome.

The long-term outcome of orthostatic tremor.

Objectives: Orthostatic tremor is a rare condition characterised by high-frequency tremor that appears on standing. Although the essential clinical features of orthostatic tremor are well established, little is known about the natural progression of the disorder. We report the long-term outcome based on the largest multicentre cohort of patients with orthostatic tremor.

Aberrant cortical associative plasticity associated with severe adult Tourette syndrome.

Background: Recent studies have shown altered cortical plasticity in adult patients with Tourette syndrome. However, the clinical significance of this finding remains elusive.

Methods: Motor cortical plasticity was evaluated in 15 adult patients with severe Tourette syndrome and 16 healthy controls using the paired associative stimulation protocol by transcranial magnetic stimulation.

Lack of validation of variants associated with cervical dystonia risk: a GWAS replication study.

Background: A recent genome-wide association study (GWAS) has identified a putative association, not statistically confirmed, of cervical dystonia within several regions in a British population. Hence, the authors proposed dysfunction of the ion channel NALCN (for sodium leak channel, nonselective) as a plausible cause of cervical dystonia. The objective of our study was to investigate the association of five single nucleotide polymorphisms (SNPs) previously reported with high signals as putative genetic risk factors for cervical dystonia in a British GWAS, including two located in the NALCN gene region.

The use of botulinum toxin in the treatment of sialorrhea in parkinsonian disorders.

Drooling is a common symptom in parkinsonian disorders. Our aim was to assess the safety and effect of botulinum toxin when applied to parotid glands without ultrasound guidance for sialorrhea in parkinsonian disorders in a retrospective study with a long-term follow-up. We evaluated 53 patients (64.

Clinical features and neuropsychological profile in vascular parkinsonism.

Background: The clinical profile in vascular parkinsonism (VP) patients is well described in the literature, but little is known about the neuropsychological features of this disease. The aim of our study was to evaluate the clinical characteristics and the profile of cognitive impairment in patients with VP.

Methods: We prospectively evaluated 12 patients with VP, 15 with Parkinson's disease (PD) and 13 healthy controls (HC) with similar age and sex distribution.

Parieto-motor cortical dysfunction in primary cervical dystonia.

Background: Dystonia is considered as a motor network disorder involving the dysfunction of the posterior parietal cortex, a region involved in preparing and executing reaching movements.

Objective/hypothesis: We used transcranial magnetic stimulation to test the hypothesis that cervical dystonic patients may have a disrupted parieto-motor connectivity.

Methods: We enrolled 14 patients with primary cervical dystonia and 14 controls.

BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis.

Background: A polymorphism in brain-derived neurotrophic factor (BDNF) (Val66Met) has been reported as a risk factor in primary dystonia. However, overall the results have been inconclusive. Our aim was to clarify the association of Val66Met with primary dystonia, and with the most prevalent clinical subtypes, cervical dystonia and blepharospasm.

Effects of two weeks of cerebellar theta burst stimulation in cervical dystonia patients.

Dystonia is generally regarded as a disorder of the basal ganglia and their efferent connections to the thalamus and brainstem, but an important role of cerebellar-thalamo-cortical (CTC) circuits in the pathophysiology of dystonia has been invoked. Here in a sham controlled trial, we tested the effects of two-weeks of cerebellar continuous theta burst stimulation (cTBS) in a sample of cervical dystonia (CD) patients. Clinical evaluations were performed by administering the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) and the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS).

Long-term levodopa/carbidopa intestinal gel in advanced Parkinson's disease.

The short-term benefits of levodopa/carbidopa intestinal gel (LCIG) in patients with advanced Parkinson's disease (PD) are well documented, but the long-term benefits are still uncertain. The aim of this study was to investigate the motor and cognitive outcome of LCIG treatment in advanced PD after a follow-up period of at least 24 months. We assessed 29 patients with advanced PD who started LCIG infusion at our centre between 2007 and 2013.

Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain.

Mutations in FBXO7 (PARK15) have been associated with a syndrome characterized by early-onset progressive parkinsonism with and without pyramidal tract signs. Therefore, our aim was to analyze this gene in a population from southern Spain (338 Parkinson's disease [PD] patients and 330 unrelated control subjects) to elucidate the potential involvement of FBXO7 in PD pathogenesis. We identified 17 variants (11 novel), including 10 missense substitutions, 3 synonymous, and 4 intronic alterations.

Genetic association of sirtuin genes and Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disease caused by both genetic and environmental factors. Sirtuins are highly-conserved, NAD-dependent class III deacetylases that regulate a variety of cellular functions. Most of the known sirtuins have been involved in animal models of neurodegenerative disorders, such as PD.

Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.

Background: Low serum uric acid (UA) levels have been associated with increased Parkinson's disease (PD) risk and accelerated disease progression. We analyzed the effect of polymorphisms in 9 genes influencing serum UA concentration on the risk of PD.

Methods: We genotyped SLC2A9 rs734553, ABCG2 rs2231142, SLC17A1 rs1183201, SLC22A11 rs17300741, SLC22A12 rs505802, GCKR rs780094, PDZK1 rs12129861, LRRC16A+SCGN rs742132, and SLC16A9 rs12356193 in 1061 PD patients and 754 controls.

PSMC1 Gene in Parkinson's Disease.

Background: Impairment of the ubiquitin-proteasome system has been suggested to play an important role in the pathogenesis of Parkinson's disease (PD). The 26S proteasome regulatory subunit 1 is encoded by the gene PSMC1 in humans. PSMC1 knockout mice showed a PD-like phenotype.

Intermediate alleles at the FRAXA and FRAXE loci in Parkinson's disease.

Background: It is debatable whether the size of triplet repeats of the fragile X mental retardation genes FMR1 and FMR2 (found at the FRAXA and FRAXE loci) is associated with Parkinson's disease (PD). The aims of the current study were to investigate the relationship between these genes and PD and to determine whether these genes affected clinical manifestations of PD.

Methods: We recruited 206 PD patients and 227 control subjects from southern Spain.