Trigeminal Neuralgia Associated With a Solitary Pontine Lesion: A Case Report.

Trigeminal neuralgia associated with brainstem lesions is currently considered as a rare condition and only few patients have been reported so far in literature. Tohyama and colleagues recently proposed the nosological entity of trigeminal neuralgia associated with solitary pontine lesion, trying to categorize it as a new clinical syndrome on its own. Based on this description, trigeminal neuralgia associated with solitary pontine lesion patients have an identical clinical presentation compared to other patients with trigeminal neuralgia but have a solitary pontine lesion.

Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy.

Introduction: We investigated the clinical differences between familial and sporadic frontotemporal dementia (FTD), screening for mutations in known FTD genes.

Methods: We diagnosed 22 affected individuals belonging to eight families and 43 sporadic cases with FTD in Apulia, Southern Italy, in 2 years. Mutations in common causative FTD genes (GRN, MAPT, VCP, and TARDBP) and C9ORF72 expansions were screened.

Altered protein expression pattern in skin fibroblasts from parkin-mutant early-onset Parkinson's disease patients.

Parkinson's disease (PD) is the most common neurodegenerative movement disorder caused primarily by selective degeneration of the dopaminergic neurons in substantia nigra. In this work the proteomes extracted from primary fibroblasts of two unrelated, hereditary cases of PD patients, with different parkin mutations, were compared with the proteomes extracted from commercial adult normal human dermal fibroblasts (NHDF) and primary fibroblasts from the healthy mother of one of the two patients. The results show that the fibroblasts from the two different cases of parkin-mutant patients display analogous alterations in the expression level of proteins involved in different cellular functions, like cytoskeleton structure-dynamics, calcium homeostasis, oxidative stress response, protein and RNA processing.

Effect of resveratrol on mitochondrial function: implications in parkin-associated familiar Parkinson's disease.

Mitochondrial dysfunction and oxidative stress occur in Parkinson's disease (PD), but the molecular mechanisms controlling these events are not completely understood. Peroxisome proliferator-activated receptor-gamma coactivator-1α (PGC-1α) is a transcriptional coactivator known as master regulator of mitochondrial functions and oxidative metabolism. Recent studies, including one from our group, have highlighted altered PGC-1α activity and transcriptional deregulation of its target genes in PD pathogenesis suggesting it as a new potential therapeutic target.

Predictors of survival in a series of clinically diagnosed progressive supranuclear palsy patients.

Background: Investigations into prognostic factors in progressive supranuclear palsy have shown conflicting results. We performed a retrospective study in order to identify clinical predictors of survival in clinically diagnosed progressive supranuclear palsy patients referred to our centre.

Methods: Data on medical history, survival and five clinical disability milestones (inability to walk unassisted, unintelligible speech, severe dysphagia, dementia and institutionalization) were collected from outpatients' medical records and by a telephone interview to caregivers.

Hyperhomocysteinemia in levodopa-treated patients with Parkinson's disease dementia.

Dementia is a frequent non-motor feature of Parkinson's disease (PD). Elevated plasma homocysteine (Hcy) levels have been associated with both cognitive impairment and dementia. Increased Hcy levels have been observed in levodopa-treated patients with PD.

Elevated plasma homocysteine levels in L-dopa-treated Parkinson's disease patients with dyskinesias.

Background: Elevated plasma homocysteine (Hcy) concentrations are associated with increased risk of systemic vascular diseases, Alzheimer's disease and vascular dementia. Several cross-sectional reports and two prospective clinical studies have recently reported elevated plasma Hcy levels in L-dopa-treated Parkinson's disease (PD) patients and Hcy has been proposed as a possible mediator for the development of long-term L-dopa motor complications (such as wearing off and on-off phenomena, and dyskinesias). The aim of the study was to elucidate a possible role of L-dopa-related hyperhomocysteinemia in the development of dyskinesias.