The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.

Background: Mutations in ANO3 are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood.

Cases: We extensively characterize a new, large ANO3 family with six affected carriers. The proband is a young girl who had suffered from tremor and painful dystonic movements in her right arm since the age of 11 years.

Primaries non-migraine headaches treatment: a review.

In the "headache world," great attention has always been paid to migraine patients, especially for the research and development of new therapies. For the other forms of primary headaches, especially those of Chapters 2 and 3 of the classification, there are however therapies that, even if not specific, can give significant results. Tension-type headache recognizes in NSAIDs the most effective drugs to treat acute attack, while prevention is based on the use of tricyclic antidepressants and muscle relaxants.

Loneliness and depression among older European adults: The role of perceived neighborhood built environment.

Depression and loneliness act in a synergistic way among older adults. We tested two indicators of the perceived neighborhood built environment (BE) as moderators of the association between these conditions in older European adults. Positive perceptions of neighborhood BE were related to lower levels of loneliness but not to major depressive disorder (MDD).

The role of socio-economic status in depression: results from the COURAGE (aging survey in Europe).

Background: Low socio-economic status (SES) has been found to be associated with a higher prevalence of depression. However, studies that have investigated this association have been limited in their national scope, have analyzed different components of SES separately, and have not used standardized definitions or measurements across populations. The aim of the current study was to evaluate the association between SES and depression across three European countries that represent different regions across Europe, using standardized procedures and measurements and a composite score for SES.

Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison.

This study aimed to 'define responder' through the concept of minimum clinically important differences using the individually obtained standard errors (MCID-SE) and a heuristic 'external criterion' responsiveness method in patients with Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). One hundred and fourteen newly diagnosed or relapsing patients (GBS: 55, CIDP: 59) were serially examined (1-year follow-up). The inflammatory Rasch-built overall disability scale (I-RODS), Rasch-transformed MRC sum score (RT-MRC), and Rasch-transformed modified-INCAT-sensory scale (RT-mISS) were assessed.

Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses.

We performed a comparison between Neuropathy Impairment Scale-sensory (NISs) vs. the modified Inflammatory Neuropathy Cause and Treatment sensory scale (mISS), and NIS-motor vs. the Medical Research Council sum score in patients with Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and IgM monoclonal gammopathy of undetermined significance-related polyneuropathy (MGUSP).

Frovatriptan 2.5 mg plus dexketoprofen (25 mg or 37.5 mg) in menstrually related migraine. Subanalysis from a double-blind, randomized trial.

Purpose: The purpose of this article is to investigate the efficacy and safety of frovatriptan plus dexketoprofen 25 or 37.5 mg (FroDex25 or FroDex37.5, respectively) compared to that of frovatriptan 2.

Factors associated with active aging in Finland, Poland, and Spain.

Background: Continuous population aging has raised international policy interest in promoting active aging (AA). AA theoretical models have been defined from a biomedical or a psychosocial perspective. These models may be expanded including components suggested by lay individuals.

Comparison of frovatriptan plus dexketoprofen (25 mg or 37.5 mg) with frovatriptan alone in the treatment of migraine attacks with or without aura: a randomized study.

Background: Drugs for migraine attacks include triptans and NSAIDs; their combination could provide greater symptom relief.

Methods: A total of 314 subjects with history of migraine, with or without aura, were randomized to frovatriptan 2.5 mg alone (Frova), frovatriptan 2.

Epithelial expression of vanilloid and cannabinoid receptors: a potential role in burning mouth syndrome pathogenesis.

Burning mouth syndrome (BMS) is an intra-oral burning sensation for which presently no medical or dental causes have been found, and in which the oral mucosa appears normal. It remains an unknown disease for which there is still no long-term treatment. The aim of this study was to assess the epithelial alteration of transient receptor potential vanilloid channel type 1 (TRPV1) and cannabinoid receptors type 1 (CB1) and type 2 (CB2) in the human tongue.

Frovatriptan versus zolmitriptan for the acute treatment of migraine with aura: a subgroup analysis of a double-blind, randomized, multicenter, Italian study.

Migraine with aura affects ~20-30 % of migraineurs and it is much less common than migraine without aura. The aim of this study was to compare the efficacy of frovatriptan 2.5 mg and zolmitriptan 2.

Frovatriptan versus zolmitriptan for the acute treatment of migraine: a double-blind, randomized, multicenter, Italian study.

The objective of this study is to assess patients' satisfaction with migraine treatment with frovatriptan (F) or zolmitriptan (Z), by preference questionnaire. 133 subjects with a history of migraine with or without aura (IHS criteria) were randomized to F 2.5 mg or Z 2.

Erythropoietin in amyotrophic lateral sclerosis: a pilot, randomized, double-blind, placebo-controlled study of safety and tolerability.

Preclinical studies demonstrated that erythropoietin is neuroprotective in different models of peripheral and central nervous system diseases. We investigated safety and tolerability of recombinant human erythropoietin (rhEPO) in amyotrophic lateral sclerosis (ALS). We performed a phase II double-blind, randomized, placebo-controlled study.

Painful neuropathy in subclinical hypothyroidism: clinical and neuropathological recovery after hormone replacement therapy.

We describe a 60-year-old woman complaining of severe burning feet for 3 months. A neurological examination showed absent Achilles tendon reflexes; nerve conduction study demonstrated mild sensory neuropathy, and skin biopsy revealed a length-dependent loss of intraepidermal nerve fibres. Haematological exams demonstrated a subclinical hypothyroidism and hormone replacement therapy was started.

Short- and intermediate-term efficacy of buprenorphine TDS in chronic painful neuropathies.

Buprenorphine is a potent opioid available as a transdermal delivery system (TDS) formulation. This open-label study investigated its safety, tolerability, and efficacy in 30 patients with chronic painful neuropathy. Subjects with visual analogue scale (VAS) score > or = 5 under stable analgesic treatment were entered.

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.

Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal-dominant movement disorder characterized by attacks of dystonia, chorea and athetosis. Myofibrillogenesis regulator-1 (MR-1), the gene responsible for PNKD, is transcribed into three alternatively spliced forms: long (MR-1L), medium (MR-1M) and small (MR-1S). Two mutations, A7V and A9V, were previously discovered in the N-terminal region common to MR-1L and MR-1S.

Skin biopsy for the diagnosis of peripheral neuropathy.

Skin biopsy has become an accepted tool for investigating small nerve fibres, which are invisible to conventional neurophysiological tests even though they are affected early on in peripheral neuropathies of varying aetiology. Morphometric analysis of epidermal and dermal nerves has proved to be reliable, reproducible and unaffected by the severity of neuropathy, making skin biopsy useful for diagnosing small fibre neuropathy (SFN) in clinical practice. The possibility of obtaining skin biopsy specimens from different sites of the body, to repeat them within the area of the same sensory nerve, to distinguish between somatic and autonomic nerves and to investigate the expression of nerve-related proteins has widened the potential applications of this technique to clinical research.

Skin biopsy as a diagnostic tool in peripheral neuropathy.

Skin biopsy is a safe, minimally invasive, painless and cheap tool for providing diagnostic information on small nerve fibers, which are invisible to routine neurophysiological tests. Biopsy can be performed in hairy skin to investigate unmyelinated and thinly myelinated fibers and in glabrous skin to examine large myelinated fibers. Morphometric analysis of skin nerves is readily accomplished through the use of immunohistochemical techniques, and has proved to be reliable, reproducible and unaffected by the severity of neuropathy.

Self-closing U-clips for intracranial microanastomoses in high-flow arterial bypass: technical case report.

Objective: Self-closing nitinol U-clips (Medtronic, Inc., Minneapolis, MN) have been used to create vascular microanastomoses by vascular surgeons. This device eliminates the need for suture management and knot tying.

Astrocytes are active players in cerebral innate immunity.

Innate immunity is a constitutive component of the central nervous system (CNS) and relies strongly on resident myeloid cells, the microglia. However, evidence is emerging that the most abundant glial cell population of the CNS, the astrocyte, participates in the local innate immune response triggered by a variety of insults. Astrocytes display an array of receptors involved in innate immunity, including Toll-like receptors, nucleotide-binding oligomerization domains, double-stranded RNA-dependent protein kinase, scavenger receptors, mannose receptor and components of the complement system.

Celiac disease presenting with motor neuropathy: effect of gluten free-diet.

Celiac disease is a rare cause of neuropathy that most commonly presents with symmetric distal sensory disturbances. We describe two patients with celiac disease in whom neuropathy presented unusually with progressive weakness of the limbs. In both patients a gluten-free diet induced a significant improvement of muscle strength and neurophysiological abnormalities, suggesting a direct pathogenetic role of sensitivity to gluten.

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

Mitochondrial protein translation is a complex process performed within mitochondria by an apparatus composed of mitochondrial DNA (mtDNA)-encoded RNAs and nuclear DNA-encoded proteins. Although the latter by far outnumber the former, the vast majority of mitochondrial translation defects in humans have been associated with mutations in RNA-encoding mtDNA genes, whereas mutations in protein-encoding nuclear genes have been identified in a handful of cases. Genetic investigation involving patients with defective mitochondrial translation led us to the discovery of novel mutations in the mitochondrial elongation factor G1 (EFG1) in one affected baby and, for the first time, in the mitochondrial elongation factor Tu (EFTu) in another one.