Learn More
Mutations in the LRRK2 gene have been identified in families with autosomal dominant parkinsonism. We amplified and sequenced the coding region of LRRK2 from genomic DNA by PCR, and identified a heterozygous mutation (Gly2019 ser) present in four of 61 (6.6%) unrelated families with Parkinson's disease and autosomal dominant inheritance. The families(More)
BACKGROUND Levodopa-related motor complications can be an important source of disability for patients with advanced Parkinson disease. Current evidence suggests that these motor complications are related to the relatively short half-life of levodopa and its potential to induce pulsatile stimulation of striatal dopamine receptors. Motor complications can be(More)
OBJECTIVE To study the distribution of prior scoliosis among patients with primary adult-onset cervical dystonia (CD) and matched control subjects. METHODS Case and control subjects were selected among consecutive outpatients attending four Italian centers. Control outpatients were matched for age (+/-5 years), sex, and referral center. Information on(More)
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator gene and characteristically leads to prominent lung and pancreatic malfunctions. Although an inflammatory reaction is normally observed in the CF airways, no studies have been performed to establish whether a chronic inflammatory response is also present in the CF(More)
The approach to early Parkinson’s disease denotes the communication of the diagnosis and important decisions, such as when and how to start treatment. Evidence based medicine and guidelines indicate which drugs have robust evidence of efficacy and tolerability in this specific population. However, de-novo patients may show different characteristics and they(More)
BACKGROUND Villus atrophy is the most distinctive sign of untreated coeliac disease (CD) and epithelial apoptosis is considered to be involved in this stage of the coeliac lesion. The extent of villus atrophy is, however, not homogeneous and patients with patchy or mild lesions have been described. AIMS To address: (a) the degree of "patchiness" in(More)
Twenty-six, respectively twenty-three untrained Italian doctors participated in the rating of two patients with a preliminary Italian version of the CPRS. Despite an unfavourable setting, and some linguistic inaccuracies in the translation, a quite satisfactory degree of agreement was reached among the doctors. The Italian version of the CPRS has now been(More)
BACKGROUND Botulinum toxin A (BTX) is the currently preferred symptomatic treatment for primary hemifacial spasm (HFS), but its long-term efficacy and safety are not known. OBJECTIVE To assess the long-term effectiveness and safety of BTX in the treatment of primary HFS. DESIGN Retrospective review of medical records of the 1st and 10th years of(More)
Cortical inhibitory mechanisms were investigated with the technique of paired transcranial magnetic stimulation in 10 patients with dystonia of the right arm: six patients had focal, task-specific dystonia (writer's cramp) and three had segmental and one had generalized dystonia. Paired stimuli were delivered in a conditioning-test design during slight(More)
Motor complications are a major source of disability for patients with advanced Parkinson's disease. Surgical therapies provide benefit to some, but these treatments are expensive and associated with adverse effects. Current research indicates that motor complications are associated with abnormal, intermittent, pulsatile stimulation of denervated dopamine(More)