Case report: Coexistence of myotonia congenita and Brugada syndrome in one family.

Myotonia congenita is a rare neuromuscular disorder caused by CLCN1 mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac manifestations have been described. We report a family with autosomal dominant myotonia congenita and Brugada syndrome. Bearing in mind the previously reported cases of cardiac arrhythmias in myotonia congenita patients, we discuss the possible involvement of the CLCN1-gene mutations in primary cardiac arrhythmia.

Electrochemical Skin Conductance Alterations during Spinal Cord Stimulation: An Experimental Study.

Despite the well-known clinical effects of spinal cord stimulation (SCS), the mechanisms of action have not yet been fully unraveled. The primary aim of this study was to measure whether electrochemical skin conductance, as a measure of peripheral sympathetic autonomic function, is altered by SCS. A second aim was to compare skin conductance levels of patients with failed back surgery syndrome (FBSS) with age- and sex-matched healthy controls. Twenty-three patients with FBSS treated with SCS participated in this study. Sudomotor function was measured with the SudoscanTM instrument on the hands and feet during SCS on and off states. Difference scores in skin conductance between patients and age- and sex-matched healthy controls were calculated. Normal sudomotor function at the painful lower limb was revealed for 61% of the patients when SCS was activated. Skin conductance levels were not altered between on and off states of SCS. Differences in scores between patients and healthy controls were significantly different from zero. This study showed that SCS does not influencing the sympathetic nervous system in patients with FBSS, as measured by skin conductance levels. Moreover, it suggested that there is no normalization of the functioning of the sympathetic nervous system, despite the effectiveness of SCS to reduce pain intensity.

Bilateral low frequency rTMS of the primary motor cortex may not be a suitable treatment for levodopa-induced dyskinesias in late stage Parkinson's disease.

BACKGROUND: In late stage Parkinson patients there is an unmet need for new treatments to adequately control motor complications, especially dyskinesias. In several preliminary studies, it has been suggested that applying unilateral low-frequency repetitive transcranial magnetic stimulation (LF rTMS), delivered at the primary motor cortex (MC) or the supplementary motor area (SMA), may reduce levodopa-induced dyskinesias (LID), either in a single or a multiple session stimulation protocol. In our current clinical research, we examined whether single or multiple (accelerated) sham-controlled bilateral LF rTMS session(s) applied to the primary motor cortices are able to reduce levodopa-induced dyskinesias in patients with advanced Parkinson's disease. METHODS: During a levodopa challenge test, we first investigated the effect of a single sham-controlled session of LF rTMS (1 Hz) to both left and right primary motor cortical areas on dyskinesias and motor function in nine late-stage Parkinson patients. In a second study, patients were assigned to a five day sham-controlled bilateral motor cortex cross-over accelerated LF rTMS protocol and effects on dyskinesias, motor and executive function and emotional status were assessed. RESULTS: We found no significant clinical change in levodopa-induced dyskinesias and motor function with either stimulation protocol. CONCLUSIONS: One or multiple bilateral LF rTMS session(s) applied to the primary motor cortex were unable to reduce levodopa-induced dyskinesias in late-stage Parkinson patients.

Headache associated with cough: a review.

Headache only triggered by coughing is a rather uncommon condition. The aim of the present review is to present an overview of the diagnosis, clinical characteristics, pathophysiology and treatment of both primary and symptomatic cough headache and discuss other relevant headache disorders affected by coughing. The diagnosis of primary cough headache is made when headache is brought on and occurs only in association with coughing, straining or a Valsalva manoeuvre and in the absence of any abnormalities on neuro-imaging. In case an underlying pathology is identified as a cause of the headache, the diagnosis of symptomatic cough headache is made. The vast majority of these patients present with a Chiari malformation type I. Other frequently reported causes include miscellaneous posterior fossa pathology, carotid or vertebrobasilar disease and cerebral aneurysms. Consequently, diagnostic neuroimaging is key in the diagnosis of cough-related headache and guides treatment. Besides primary and symptomatic cough headache, several other both primary and secondary headache disorders exist where coughing acts as a trigger or aggravator of headache symptomatology.

Pre-stroke use of statins on stroke outcome: a meta-analysis of observational studies.

BACKGROUND: Animal pre-clinical studies suggest that statins may have neuroprotective effects in acute ischaemic stroke. Statins might also increase the risk of developing haemorrhagic transformation after thrombolytic treatment. METHODS: We performed a systematic review and included studies that compared good functional outcome, defined as a modified Rankin Scale (mRS) score < or = 2 at 3 months, in-hospital mortality and risk of symptomatic haemorrhagic transformation, between pre -stroke statin users and non users with acute ischaemic stroke. RESULTS: Eleven studies met our predefined inclusion criteria. Statin therapy before stroke-onset was associated with a lower risk of in-hospital mortality (OR 0.56; 95% CI: 0.40 to 0.78, P < 0.0006). There was no difference between the two groups for good functional outcome at 3 months (OR 1.01; 95% CI: 0.64 to 1.61, P = 0.96). Statin use was associated with an increased risk of developing symptomatic haemorrhagic transformation after thrombolytic therapy (OR 2.34; 95% CI 1.31 to 4.17, P = 0.004). CONCLUSIONS: Our meta-analysis suggests that pretreatment with statins does not improve 3 months functional outcome, defined as independence on mRS, but decreases in-hospital mortality and increases the risk of developing a symptomatic haemorrhagic transformation in patients treated with thrombolysis.