CACNA1A variant associated with generalized dystonia.

Introduction: CACNA1A gene variants are correlated with different disorders, including episodic ataxia type 2, spinocerebellar ataxia type 6, and familial hemiplegic migraine type 1. Despite dystonia not being a typical manifestation of CACNA1A variants, there are reports indicating a link between this gene mutation and dystonic features.

Methods: We report the case of a patient with a novel missense variant of the CACNA1A gene presenting headache, head and arm tremor, dystonia, episodic painful focal dystonic attacks, and unexplained falls.

Parkinsonian traits in amyotrophic lateral sclerosis (ALS): a prospective population-based study.

Background: Amyotrophic lateral sclerosis (ALS) is characterized by a spectrum of phenotypes, but only a few studies have addressed the presence of parkinsonian (PK) symptoms. The aim of our study was to investigate the occurrence of PK features in a prospective population-based cohort of ALS patients, determining their demographic, clinical, neuropsychological and genetic characteristics, and identifying their morphological and functional imaging correlates.

Methods: A consecutive series of ALS patients were enrolled and prospectively followed for 2 years.

Effects of intestinal Levodopa infusion on freezing of gait in Parkinson disease.

Objective: To determine the impact of levodopa-carbidopa intestinal gel (LCIG) infusion on different subtypes of freezing of gait (FoG) classified according to levodopa responsiveness in advanced Parkinson disease (PD) patients.

Methods: We retrospectively assessed the presence and severity of FoG in 32 advanced PD patients based on the Unified PD Rating Scale (UPDRS) item 14 score. Different FoG subtypes were inferred from the score variation with oral dopaminergic medications.

Impulse control disorder and response-inhibition alterations in Parkinson's disease. A rare case of totally absent functionality of the medial-prefrontal cortex and review of literature.

This report illustrates a Parkinson's disease (PD) patient with impulse-control disorder (ICD) and selective impairment in response-inhibition abilities as revealed by the performance in a functional magnetic resonance imaging (fMRI) anterior cingulate cortex - sensitive go-nogo task. In line with hypothesis on the role of response-inhibition disabilities in the arising of impulsivity in PD, the patient completely failed the go-nogo task. Moreover, fMRI acquisition revealed absent task-sensitive activity in the anterior cingulate cortex, medial prefrontal, and orbitofrontal cortices for the contrast nogo versus go, which signifying that a hypo-function of this network could be associated with ICD.

The placebo effect on bradykinesia in Parkinson's disease with and without prior drug conditioning.

Background: Placebo effects represent a major drawback in clinical trials, and their magnitude hampers the development of new treatments. Previous research showed that prior exposure to active treatments increases the placebo response for muscle rigidity in Parkinson's disease.

Methods: We investigated the effects of prior exposure to apomorphine on the placebo response of another cardinal symptom of Parkinson's disease, bradykinesia, by a movement time analyzer.

Duloxetine is effective in treating depression in multiple sclerosis patients: an open-label multicenter study.

Objectives: Duloxetine hydrochloride, a dual reuptake inhibitor of serotonin and norepinephrine, was evaluated for its therapeutic efficacy, safety, and tolerability in the treatment of depression in patients with multiple sclerosis (MS). Lifetime depression prevalence approaches 50% in MS patients. The aim of the study was to assess the safety and efficacy of duloxetine for treatment of depression in MS patients.