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The diagnosis of restless legs syndrome (RLS) relies upon diagnostic criteria which are based on history only, and dopaminergic treatment is not normally the first choice of treatment for all patients. It would be worthwhile to identify patients non-responsive to dopaminergic treatment beforehand, because they may suffer from a restless legs-like syndrome and may require alternative treatment. We included retrospectively 24 adult patients fulfilling the four essential criteria for restless legs and 12 age-matched healthy controls. They were investigated by ambulatory actigraphy from both legs over three nights, and patients started treatment with dopamine agonists after this diagnostic work-up. We examined 12 responders to dopaminergic treatment and 12 non-responders and studied the association between response to dopaminergic treatment and the periodic limb movement index (PLMI) as assessed with actigraphy. Demographic characteristics, excessive daytime sleepiness and fatigue at baseline were similar in all three groups. Baseline RLS severity was similar between responders and non-responders [International Restless Legs Severity Scale (IRLS): 25 ± 9 and 24 ± 8]. Group comparisons of PLMI before treatment initiation showed significant differences between the three groups. Post-hoc pairwise comparisons revealed that healthy controls had significantly lower PLMI (4.9 ± 4.5) than responders (29.3 ± 22.7) and non-responders (13.3 ± 11.2). Similarly, the PLMI in responders was lower than in non-responders. PLMI day-to-day variability did not differ between responders and non-responders and there was no correlation between treatment effect, as assessed by the decrease of the IRLS and baseline PLMI. Our retrospective study indicates that actigraphy to assess periodic limb movements may contribute to a better diagnosis of dopamine-responsive restless legs syndrome., (© 2013 European Sleep Research Society.)

Background: Restless legs syndrome (RLS) is characterized by sensorimotor symptoms that usually are localized in both legs, but may present considerable asymmetry. Patients with strictly and persisting unilateral manifestations have not yet been reported., Methods: We describe the clinical and electrophysiological characteristics of three RLS patients with unilateral symptoms., Results: All essential RLS criteria were fulfilled in each patient. Neuroimaging and electrophysiological studies did not reveal structural lesions. All patients showed a predominance of periodic limb movements in sleep (PLMS) ipsilaterally to the RLS symptoms. Treatment response to dopaminergic drugs was favourable only in one patient., Controls: Our observations suggest the existence of unilateral RLS with predominantly ipsilateral PLMS as a (so-far unrecognized) variant of RLS.

Background: Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a recently described, very rare entity, clinically characterized by progressive neurological deficits such as cognitive decline, epileptic seizures, pyramidal, extrapyramidal and cerebellar symptoms/signs. With the exception of two patients with adult onset, in all previously described cases symptoms onset occurred between early infancy and adolescence., Results: We report a case of late onset LCC in a 59-year-old woman presenting with urinary and fecal incontinence and behavioural changes, then rapid progression with hemianopia, hemiparesis, ataxia and cognitive decline. Extensive work-up was performed, including brain magnetic resonance imaging, magnetic resonance spectroscopy, cyst fluid analysis and brain biopsy, confirming the final diagnosis of LCC., Conclusion: Our case supports the existence of a late onset adult form of LCC.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease caused by mutations of the Notch3 gene. Clinical manifestations include migraine with or without aura, psychiatric disorders, recurrent ischaemic strokes and cognitive decline. Brain MRI shows confluent hyperintense signal alterations involving characteristically the anterior part of the temporal lobes and widespread areas of the deep and periventricular white matter. Focal or generalised seizures represent a rare neurological manifestation in CADASIL with a frequency of 6-10% in two large series.1(,)2 Status epilepticus, however, has not been reported so far. Herein we describe a patient with CADASIL with an acute focal neurological deficit following a prolonged migraine attack. The symptoms were first interpreted as an ischaemic stroke but subsequently diagnosed to be due to a non-convulsive status epilepticus.

Background/aims: Whereas insomnia is frequent in restless legs syndrome (RLS), little is known about daytime sleepiness. We studied a series of 27 consecutive patients with idiopathic RLS in order to identify the characteristics and evolution of excessive daytime sleepiness (EDS) under dopaminergic treatment., Methods: Patients were assessed by clinical examination, questionnaires and video-polysomnography (PSG). Sleepy patients, as defined by Epworth Sleepiness Scale (ESS) >10, were also assessed by the multiple sleep latency test (MSLT). We excluded RLS patients with other sleep-wake disorders, in particular chronic sleep deprivation., Results: Mean age was 56 years, the mean International RLS Study Group Rating Scale score was 24 at baseline. Ten (37%) of the 27 patients reported EDS. RLS patients with sleepiness had a higher amount of total sleep time (p = 0.029) on PSG and a mean sleep latency of 6.4 min on MSLT. No other differences regarding clinical or polysomnographic parameters were found. RLS severity improved in all patients under dopaminergic treatment (p = 0.001); this was also the case for the ESS score in sleepy patients (p = 0.007)., Conclusion: In our series of RLS patients, EDS was common, characterized by longer sleep (PSG) and reduced sleep latencies on MSLT. Under dopaminergic treatment, both RLS severity and ESS improved., (Copyright 2009 S. Karger AG, Basel.)

Background: Obstructive sleep apnoea syndrome (OSAS) has been associated with cardiovascular disease in epidemiological and observational studies. Continuous positive airway pressure (CPAP) is the treatment of choice for OSAS, but the impact of this intervention on systemic inflammation involved in the atherosclerotic process remains unclear., Methods: 100 men with moderate-severe OSAS were randomised to therapeutic (n = 51) or subtherapeutic (n = 49) CPAP treatment for 4 weeks to investigate the effects of active treatment on inflammatory markers such as highly sensitive C reactive protein (hsCRP), interleukin (IL)6, interferon gamma (IFNgamma) and anti-inflammatory adiponectin., Results: 4 weeks of therapeutic CPAP did not significantly change blood levels of hsCRP compared with the subtherapeutic control group (difference between median changes -0.24 mg/l (95% CI -0.88 to +0.24); p = 0.30). Plasma levels of IL6 and IFNgamma did not change significantly following therapeutic compared with subtherapeutic CPAP (difference between median changes +0.52 and -0.07 pg/ml (95% CI -0.72 to +1.94 and -0.81 to +0.44); p = 0.45 and p = 0.82, respectively). Furthermore, 4 weeks of therapeutic CPAP did not significantly change levels of adiponectin in plasma compared with the subtherapeutic control group (difference between median changes +0.05 pg/ml (95% CI -0.36 to +0.47); p = 0.84). If patients with hsCRP values above 8 mg/l at baseline were excluded, differences between the changes in hsCRP, IL6, IFNgamma and adiponectin after 4 weeks of CPAP were smaller, and again not statistically different between groups., Conclusions: 4 weeks of CPAP treatment has no beneficial effect on blood markers of inflammation and adiponectin in patients with moderate-severe obstructive sleep apnoea.

Objectives: The aims of our study were 1) to better characterize central periodic breathing during sleep (CPBS) and its clinical relevance in acute stroke, 2) to better define the role of brain damage in its pathogenesis., Methods: We included 74 consecutive patients admitted within 96 hours after stroke onset. Stroke severity at admission, stroke outcome at discharge and stroke topography were assessed. ECG and transesophageal echocardiography were performed. Nocturnal breathing was assessed with an ambulatory device the first night after admission. CPBS severity was represented as absolute time and percentage of recording time., Results: Age was 63 +/- 13 (25-82), 49 (66 %) were male. Thirty (41 %) patients showed CPBS during >or= 10 % and 7 (9 %) during >or= 50 % of recording time. CPBS severity was associated with age (p = 0.017), stroke severity (p = 0.008), ECG abnormalities (p = 0.005) and lower left ventricular ejection fraction (p < 0.0001). CPBS severity was higher in patients with extensive hemispheric strokes (n = 6, p < 0.0001), and lower in patients with partial strokes involving the left insula (n = 5, p < 0.0001) and the mesencephalon (n = 5, p = 0.002)., Conclusions: CPBS is frequent in acute ischemic stroke and is associated with older age, stroke severity/extension, and lower left ventricular function. The lower occurrence of CPBS in left insular and mesencephalic stroke suggests a major role of distinct brain areas in the modulation of respiratory phenomena accompanying acute stroke.

Background: The aim of this study was to test the hypothesis of a link between sleep and cognitive functions, particularly memory and attention, after stroke., Methods: We studied 11 consecutive patients with first-ever hemispheric ischaemic stroke within eight days after symptoms onset and nine of them at least three months after stroke. Sleep EEG was recorded with a portable system. Cognitive functions were assessed using a standardized battery of tests allowing the estimation of the most relevant domains of cognition. Five age-matched healthy subjects served as controls., Results: The patients were aged 43 +/- 12 years (18-59). In five patients stroke was right-sided and in six patients left-sided. In the acute stroke phase a correlation between attention and amounts of slow wave sleep (SWS), Rapid eye movement (REM) sleep and sleep efficiency was found. In the recovery phase verbal/figural memory and attention significantly improved in most patients. Furthermore, an association between (i) verbal/figural (non-verbal) memory and amounts of SWS, REM sleep and sleep efficiency, and between (ii) attention and sleep efficiency was observed., Conclusions: The results point to a link between sleep and cognitive functions and their recovery after hemispheric stroke. Further studies are needed to determine the specific nature of this link.

Differential diagnosis of pain in the face as the presenting complaint can be difficult. We propose an approach based on history and neurological examination, which allows a working diagnosis to be made at the bedside, including aetiological hypotheses, leading to a choice of investigations. Neuralgias are characterised by stabs of short lasting, lancinating pain, and, although neuralgias are often primary, imaging may be needed to exclude symptomatic forms. Facial pain with cranial nerve symptoms and signs is almost exclusively of secondary origin and requires urgent examination. Facial pain with focal autonomic signs is mostly primary and belongs to the group of the idiopathic trigeminal autonomic cephalalgias, but can occasionally be secondary. Pure facial pain is most often due to sinusitis and the chewing apparatus, but also a multitude of other causes. The pain can also be idiopathic. Imaging as well as non-neurological specialist assessment is often necessary in these cases.

Several isolated abnormalities have been noted in normotensive members of hypertensive families, including exaggerated forearm vascular resistance (FVR), decreased insulin sensitivity and elevated sodium-lithium (Na/Li) countertransport. No family study has investigated the aforementioned abnormalities concurrently within the same hypertensive families. It is therefore unknown whether these disturbances reflect single or different genetic traits. Thus, we studied cardiovascular reactivity of the forearm vasculature, cellular sodium transport mechanisms and insulin sensitivity concomitantly in normotensive (n = 24) and borderline hypertensive (n = 16) members of hypertensive families, compared with normotensive members (n = 24) of normotensive families. At least one abnormality was noted in 27 (67%) out the 40 subjects with a positive family history of hypertension. Na/Li-countertransport was increased in 15 (37%), FVR was increased in 14 (35%) and insulin sensitivity was decreased in 9 (22%) subjects with familial hypertension. The concomitant occurrence of at least 2 out of the 3 abnormalities mentioned was noted in 9 (22%) out of the 40 subjects with family history of hypertension. Decreased insulin sensitivity, increased basal FVR and increased Na/Li countertransport were concurrently observed in two (5%) subjects. This investigation documents the frequent occurrence of abnormalities such as decreased insulin sensitivity, increased basal FVR and Na/Li-countertransport in subjects with family history of hypertension. The concomitant occurrence of at least two of the mentioned abnormalities being observed in less than one-quarter of the subjects with family history of essential hypertension, it is assumed that insulin sensitivity, basal FVR and Na/Li-countertransport reflect more than one genetic trait predisposing to hypertension.