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.

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.

Mesencephalic area measured by transcranial sonography in the differential diagnosis of parkinsonism.

Background: Transcranial B-mode sonography (TCS) has become an important tool in the differential diagnosis of parkinsonism given that current technology enables an adequate assessment of brain structures. In this study we aimed at evaluating the usefulness of midbrain area measured by TCS in the differential diagnosis between Parkinson's Disease (PD) and Progressive Supranuclear Palsy (PSP).

Methods: Patients with a diagnosis of PD or PSP according to current clinical criteria were recruited.

[Evaluation of the substantia nigra by means of transcranial ultrasound imaging].

AIM. To describe the prevalence of hyperechogenicity of the substantia nigra in two samples of patients: one group who had been diagnosed with Parkinson's disease (PD) in accordance with United Kingdom Parkinson's Disease Society criteria and a control population, so as to be able to establish the reference values for our neurosonology laboratory. SUBJECTS AND METHODS.

[Levodopa in the treatment of Parkinson's disease: myths and realties].

In recent years we have witnessed a growing tendency to opt for the use of dopamine agonists (DA) as treatment for Parkinson's disease (PD), with the aim of delaying as far as possible the development of fluctuations and dyskinesias. Yet, levodopa continues to be the most effective antiparkinson drug and is probably the one that improves the greatest number of symptoms of the disease. This article reports on the results of a comprehensive review of the literature dealing with the benefits and risks of levodopa treatment in patients with PD which was conducted by a group of expert neurologists and members of the Spanish Neurology Society's Movement Disorder Group.

[Proposed alternative to standard apomorphine challenge test].

Subcutaneous apomorphine injection is used as a rescue treatment in the off periods in moderate and advanced Parkinson's disease and also when required to assess the dopaminergic response. It is not recommended as a diagnostic tool in Parkinson's disease because it has more side effects and is less specific than chronic response to levodopa. To calculate the dosage, an apomorphine challenge test is performed, generally taking quite time and testing several doses.

LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.

Background And Objective: Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families.

Design: We analyzed chromosome 12p11.

Evolution of dose and response to botulinum toxin A in cervical dystonia: a multicenter study.

Botulinum neurotoxin (BoNT) is an effective treatment for cervical dystonia (CD). Long-term changes of several variables, including the dose of BoNT, in these patients is largely unknown. We reviewed the clinical charts of 275 patients with CD treated with BoNT type A (BoNT-A) for at least 5 years since 1989 at ten tertiary centers.

[Familial idiopathic paroxysmal kinesigenic dyskinesia: its natural history and a descriptive study in three Spanish families].

Introduction: Paroxysmal kinesigenic dyskinesia (PKD) is a disorder that is characterised by brief episodes of involuntary movements triggered by other sudden movements.

Patients And Methods: Here we describe the cases of nine patients from three unrelated families who had PKD in its familial idiopathic form.

Results: The majority of the patients (77.

The SCOPA-Motor Scale for assessment of Parkinson's disease is a consistent and valid measure.

Objective: The SCOPA-Motor Scale (S-MS) for assessment of Parkinson's disease (PD), contains 21 items in three domains: Motor examination, Disability, and Complications. Our objective was to validate the S-MS Spanish version.

Study Design And Setting: This validation study was based on a multicenter, cross-sectional, one-point-in-time evaluation design.

Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis.

A 39-year-old asymptomatic man showed elevated serum ferritin levels, mild hypertransaminasemia and serum ceruloplasmin almost undetectable. There was histological iron accumulation within the hepatocytes and also in the central nervous system (MRI). A genetic analysis revealed a new missense mutation in the ceruloplasmin gene.

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized clinically by progressive motor impairment, cognitive decline, and emotional deterioration. The disease is caused by the abnormal expansion of a CAG trinucleotide repeat in the first exon of the huntingtin gene in chromosome 4p16.3.