Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis

BACKGROUND: Chorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus pallidus (GPi) may benefit these patients. To explore this issue, the present multicentre (n=12) retrospective study collected the short and long term outcome of 15 patients who underwent DBS. METHODS: Data were collected in a standardized way 2-6 months preoperatively, 1-5 months (early) and 6 months or more (late) after surgery at the last follow-up visit (mean follow-up: 29.5 months). RESULTS: Motor severity, assessed by the Unified Huntington's Disease Rating Scale-Motor Score, UHDRS-MS), was significantly reduced at both early and late post-surgery time points (mean improvement 54.3% and 44.1%, respectively). Functional capacity (UHDRS-Functional Capacity Score) was also significantly improved at both post-surgery time points (mean 75.5% and 73.3%, respectively), whereas incapacity (UHDRS-Independence Score) improvement reached significance at early post-surgery only (mean 37.3%). Long term significant improvement of motor symptom severity (≥ 20 % from baseline) was observed in 61.5 % of the patients. Chorea and dystonia improved, whereas effects on dysarthria and swallowing were variable. Parkinsonism did not improve. Linear regression analysis showed that preoperative motor severity predicted motor improvement at both post-surgery time points. The most serious adverse event was device infection and cerebral abscess, and one patient died suddenly of unclear cause, 4 years after surgery. CONCLUSION: This study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc

Status epilepticus

Status epilepticus is a neurologic emergency manifested by prolonged seizure activity or multiple seizures without full recovery of previous condition in between. The most important aim of treatment is early seizure termination, because duration of status epilepticus correlates with a higher rate of morbidity and mortality. Based on evidence from clinical trials and guidelines strategies for management of status epilepticus are provided

Identifying neurological comorbidities in obstructive sleep apnea patients through polysomnography

Purpose!#!Adaptive servo-ventilation (ASV) is a therapy designed for patients with central sleep apnea (CSA) and Cheyne Stokes respiration. The aim of this study was to find predictors of ASV usage in patients with CSA in a routine sleep clinic cohort.!##!Methods!#!In this retrospective study, consecutive patients in whom ASV therapy was initiated at the University Hospital Regensburg between 2011 and 2015, were analyzed. Analysis included polysomnographies of diagnostic and ASV initiation nights, a phone questionnaire on ASV usage, readout of the ASV device 1 month after initiation ('early ASV usage,' 1 month after ASV initiation), and the readout of the last month before a reappointment date set in 2015 ('late ASV usage,' median 17 months after ASV initiation).!##!Results!#!In 69 consecutive patients, the mean early and late ASV usage per night was 4.8 ± 2.5 h and 4.1 ± 3.0 h, respectively. Seventeen months after initiation, 57% of patients used the device ≥ 4 h per night, and of those 91% reported a subjective benefit from ASV therapy. Early ASV usage was significantly associated with late ASV usage (univariable regression: Beta 0.8, 95%CI [0.6; 1.0] p < 0.001). In multivariable regression analysis, short duration of slow wave sleep (N3) during diagnostic polysomnography (Beta - 6.2, 95%CI [- 11.0; - 1.5]; p = 0.011) and subjective benefit from ASV (Beta 174.0, 95%CI [68.6; 279.5]; p = 0.002) were significantly associated with longer late ASV usage.!##!Conclusion!#!Early ASV usage predicts late ASV usage. In addition, low slow wave sleep before ASV initiation and subjective benefit from ASV may contribute to higher late ASV usage

Ciguatera or why you should enquire about fish consumption in cases of cold allodynia

Ciguatoxins (CTX) are potent marine biotoxins produced by microalgae, which may accumulate seasonally, and which are locally variable in tropical predatory fish. Gastrointestinal, neurologic and/or cardiovascular symptoms occur shortly after the consumption of fish. Due to the high affinity of CTX to neuronal sodium channels, neurologic symptoms constitute a hallmark of ciguatera fish poisoning (CFP). Almost pathognomonic for CFP is an alteration of temperature perception (cold allodynia), in which cold surfaces are perceived as hot, painful, or produce dysesthesia (unpleasant, abnormal sensation). Increasing imports of tropical fish have led to more frequent reports of ciguatera in temperate climatic zones. We illustrate the specific features of CFP by reporting two cases due to imported tropical fish

Posterior Reversible Encephalopathy Syndrome and Stroke after Intravenous Immunoglobulin Treatment in Miller–Fisher Syndrome/Bickerstaff Brain Stem Encephalitis Overlap Syndrome

The association of a posterior reversible encephalopathy syndrome (PRES) without arterial hypertension with autoimmune-mediated inflammatory neuropathies such as Guillain–Barré syndrome (GBS) is a rare and poorly understood phenomenon. To date, PRES has been described as initial manifestation, coincidental finding, or adverse event subsequent to immunomodulatory treatment with intravenous immunoglobulin (IVIG) in cases of axonal and demyelinating GBS as well as in Miller–Fisher syndrome (MFS). We here report a case of MFS/Bickerstaff brain stem encephalitis (BBE)–overlap syndrome and nonhypertensive PRES that occurred in close temporal association with IVIG treatment and caused stroke. Immunoadsorption ameliorated the disease course. Our case supports the notion that in severe cases, immunoadsorption should be considered as first-line therapy instead of IVIG for rapid removal of IgG and thus to hasten recovery and improve functional outcome

Frühdiagnose der Chorea-Akanthozytose: orofaziale Dyskinesien, epileptische Anfälle und HyperCKämie

Chorea-acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroacanthocytosis syndrome. The diagnosis can be confirmed by detection of chorein deficiency or through molecular genetics (VPS13A mutation)

Sex differences in polysomnographic findings in patients with obstructive sleep apnea

Background and PurposeSex differences in the clinical findings and the polysomnographic presentation of patients with obstructive sleep apnea (OSA) are compelling current research issues. For example, patients suffering from obstructive sleep apnea are predominantly male. While women are older than men and tend to have a higher body mass index, men typically present with a more severe form of obstructive sleep apnea. Using polysomnography, we investigated a German cohort, subdivided per severity levels of obstructive sleep apnea (apnea-hypopnea index: ≥5 to < 15/h (mild), ≥15 to < 30/h (moderate), and ≥30/h (severe)) to provide a detailed analysis of breathing and sleep parameters, accounting for body position effects and severity of illness. A deeper understanding of sex differences may allow targeted diagnosis and treatment adjustment