RESUMEN

In the original article, Gina Ferrazzano was affiliated to Department of Neurology and Psychiatry, Neuromed Institute IRCCS, Sapienza University of Rome, Pozzilli, Italy.The corrected affiliation should be: Neuromed Institute IRCCS, Pozzilli, IS, Italy.

RESUMEN

The Italian Dystonia Registry is a multicenter data collection system that will prospectively assess the phenomenology and natural history of adult-onset dystonia and will serve as a basis for future etiological, pathophysiological and therapeutic studies. In the first 6 months of activity, 20 movement disorders Italian centres have adhered to the registry and 664 patients have been recruited. Baseline historical information from this cohort provides the first general overview of adult-onset dystonia in Italy. The cohort was characterized by a lower education level than the Italian population, and most patients were employed as artisans, builders, farmers, or unskilled workers. The clinical features of our sample confirmed the peculiar characteristics of adult-onset dystonia, i.e. gender preference, peak age at onset in the sixth decade, predominance of cervical dystonia and blepharospasm over the other focal dystonias, and a tendency to spread to adjacent body parts, The sample also confirmed the association between eye symptoms and blepharospasm, whereas no clear association emerged between extracranial injury and dystonia in a body site. Adult-onset dystonia patients and the Italian population shared similar burden of arterial hypertension, type 2 diabetes, coronary heart disease, dyslipidemia, and hypothyroidism, while hyperthyroidism was more frequent in the dystonia population. Geographic stratification of the study population yielded no major difference in the most clinical and phenomenological features of dystonia. Analysis of baseline information from recruited patients indicates that the Italian Dystonia Registry may be a useful tool to capture the real world clinical practice of physicians that visit dystonia patients.

Asunto(s)

RESUMEN

BACKGROUND: Visual hallucinations (VHs) are frequent non-motor complication of Parkinson's disease (PD), associated to a negative prognosis. Previous studies showed an association between dopamine receptor (DR) gene (DR) variants and psychosis in Alzheimer's disease, addictions, schizophrenia, and bipolar disorder. However, there are only a few studies on DR variants and VHs in PD, which did not provide conclusive results. OBJECTIVES: The present study aimed to determine whether genetic differences of DR are associated with visual hallucinations (VHs) in a cohort of Parkinson's disease (PD) patients. METHODS: A case-control study of 84 PD subjects, 42 with and 42 without VHs,that were matched for age, gender, disease duration, and dopaminergic medication was conducted. Polymerase chain reaction for SNPs in both D1-like (DRD1A-48G [rs4532] and C62T [rs686], DRD5T798C [rs6283]) and D2-like DR (DRD2G2137A [rs1800497] and C957T [rs6277], DRD3G25A [rs6280] and G712C [rs1800828], DRD4C616G [rs747302] and nR VNTR 48bp) analyzed genomic DNA. RESULTS: Patients carrying allele T at DRD1C62T had an increased risk of VHs, expressed as OR (95 % CI, p value), of 10.7 (2.9-40, p = 0.0001). Moreover, patients with DRD1-48 GG and 62TT genotype displayed shorter time to VHs, whereas a longer time to VHs was found in subjects carrying the DRD4 CG alleles. CONCLUSIONS: PD patients with VHs display higher frequency of DR SNPs associated with increased D1-like activity and decreased D2-like activity. Our data are in line with associations reported in other neurodegenerative and psychiatric conditions. Results likely provide valuable information for personalizing pharmacological therapy in PD patients.

Asunto(s)

RESUMEN

BACKGROUND: In recent years, non-motor features of Parkinson's disease (PD) have received increasing attention and PD is currently considered a systemic rather than a pure basal ganglia disorder. Among the systemic features, peripheral neuropathy (PN) is a recent acquisition since the first case-control study reporting increased frequency of PN in PD dates back to 2008. METHODS: We reviewed available literature on peripheral nervous system (PNS) involvement in PD. RESULTS: Evidence of α-synuclein deposition in the PNS and small nerve fiber deterioration in both drug-naïve and treated PD patients is becoming stronger. In addition, several recent reports documented a significant role of levodopa exposure together with group B vitamin deficiency in facilitating the development of PN and case reports suggested that treatment with continuous levodopa intestinal infusion may increase the risk of acute PN compared to both oral levodopa and other dopaminergic treatments. CONCLUSION: It is currently debated whether PN is an intrinsic disease-related feature, a consequence of levodopa treatment or both. In this review, we will discuss the different hypotheses, as well as our perspective on open issues and controversies.

Asunto(s)

RESUMEN

Distal radius fractures can be treated with different methods, depending on the type of fracture and, on our experience, according to the Fernandez algorithm. The report presents our experience treating distal radius fractures using a volar plate. We reviewed retrospectively 20 patients treated, during a period of 3 years (May 2008-May 2011) at our center, for unstable distal radius fractures using a volar plate. All patients were reviewed by thorough clinical examination and standard radiographs of the operated wrist. For the clinical evaluation, we used Mayo Wrist Score and DASH Score. At review, the injured wrist had recovered an average range of motion in flexion-extension of 120°, and the grip strength was an average of 50% compared to contralateral side. Overall, results at Mayo Wrist Score were good to excellent in 30%, satisfactory in 55%, and poor in 15%; results at DASH Score were good to excellent in 90%, satisfactory in 10% with no poor case. The majority of patients were fully satisfied with the results (65%), 20% of patients were partially satisfied, 5% were poorly satisfied, and 10% were not satisfied. At review, 4 patients reported the presence of transient paresthesia localized to the first three rays of the hand. At radiographic evaluation, the majority of patients had a radial tilt between 20 and 23, ulnar variance between 0 and 3, and dorsal tilt between 9 and 14. The treatment of unstable distal radius fractures with a volar plate provided stable internal fixation and allowed early function and was associated with a low complication rate.

Asunto(s)

RESUMEN

PURPOSE: To assess the effect of intermittent photic stimulation (IPS) at a common activating frequency, i.e. 20Hz, on motor cortex excitability by means of transcranial magnetic stimulation (TMS) in photosensitive patients with idiopathic generalized epilepsy (IGE). METHODS: We studied 15 photosensitive IGE patients showing a photoparoxysmal response (PPR) to IPS at 20Hz. Nineteen normal subjects of similar age and sex acted as controls. After the resting motor threshold (rMT) was measured, we studied the corticomotor excitability in two conditions randomly delivered, during IPS (5s) at 20Hz and without IPS. Motor evoked potentials (MEPs) were recorded from the right first dorsal interosseous muscle (FDI). We determined the cortical silent period (cSP), the short-latency intracortical inhibition (SICI) at the interstimulus interval (ISI) of 3 and 4ms and the intracortical facilitation (ICF) at ISIs of 12 and 14ms. Data were analyzed by means of rmANOVAs. RESULTS: IPS at 20Hz is significantly shortening the cSP in normal subjects, while no significant changes were detected in patients. The rMT was significantly higher in patients than controls, as expected by the concurrent antiepileptic treatment. Other corticomotor excitability measures were unaffected. CONCLUSIONS: We confirm that IPS has a weak influence on the motor cortical output in patients with IGE and PPR. The loss of the normal shortening of the cSP, otherwise present in healthy subjects in response to IPS, may have a possible protective nature.

Asunto(s)