European Journal of NeurologyVolume 23, Issue 1 p. e1-e3 Letter to the Editor Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness C. Giliberto, C. Giliberto Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalySearch for more papers by this authorE. Reggio, E. Reggio Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalySearch for more papers by this authorV. Sofia, V. Sofia Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalySearch for more papers by this authorL. Giuliano, L. Giuliano Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalySearch for more papers by this authorS. Lo Fermo, S. Lo Fermo Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalySearch for more papers by this authorR. Barone, R. Barone Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, ItalySearch for more papers by this authorM. Zappia, Corresponding Author M. Zappia Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalyCorrespondence: M. Zappia, Section of Neurosciences, Department GF Ingrassia, University of Catania, Via S. Sofia 78, 95123 Catania, Italy (tel.: +39 095 3782783; fax: +39 095 3782741; e-mail: [email protected]).Search for more papers by this author C. Giliberto, C. Giliberto Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalySearch for more papers by this authorE. Reggio, E. Reggio Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalySearch for more papers by this authorV. Sofia, V. Sofia Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalySearch for more papers by this authorL. Giuliano, L. Giuliano Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalySearch for more papers by this authorS. Lo Fermo, S. Lo Fermo Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalySearch for more papers by this authorR. Barone, R. Barone Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, ItalySearch for more papers by this authorM. Zappia, Corresponding Author M. Zappia Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, ItalyCorrespondence: M. Zappia, Section of Neurosciences, Department GF Ingrassia, University of Catania, Via S. Sofia 78, 95123 Catania, Italy (tel.: +39 095 3782783; fax: +39 095 3782741; e-mail: [email protected]).Search for more papers by this author First published: 17 December 2015 https://doi.org/10.1111/ene.12831Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood−brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991; 325: 703–709. 2De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: current state of the art. Seizure 2013; 22: 803–811. 3Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesia and induce hemolytic anemia by a cation leak. J Clin Invest 2008; 118: 2157–2168. 4Weber YG, Kamm C, Suls A, et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011; 77: 959–964. 5De Giorgis V, Teutonico F, Cereda C, et al. Sporadic and familial GLUT1DS Italian patients: a wide clinical variability. Seizure 2015; 24: 28–32. 6Bunprajun T, Henriksen TI. Lifelong physical activity prevents aging-associated insulin resistance in human skeletal muscle myotubes via increased glucose transporter expression. PLoS One 2013; 8: e66628. 7Fournier E, Arzel M, Sternberg D, et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004; 56: 650–661. 8Münchau A, Valente EM, Shahidi GA, et al. A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. J Neurol Neurosurg Psychiatry 2000; 68: 609–614. 9Pascual JM, Wang D, Hinton V, et al. Brain glucose supply and the syndrome of infantile neuroglycopenia. Arch Neurol 2007; 64: 507–513. 10Marshall BA, Ren JM, Johnson DW, et al. Germline manipulation of glucose homeostasis via alteration of glucose transporter levels in skeletal muscle. J Biol Chem 1993; 268: 18442–18445. Volume23, Issue1January 2016Pages e1-e3 ReferencesRelatedInformation

Guillain–Barrè syndrome (GBS) is an acute, paralyzing, inflammatory peripheral nerve disease, featured by monophasic disease course, symmetrical limb weakness and areflexia. Several pathologies can mimic the clinical presentation of GBS, making hard the differential diagnosis for patients complaining of acute flaccid paralysis. In this paper we describe three cases of different neurological diseases presenting with acute motor symptoms mimicking GBS, reviewing the relevant literature on misdiagnosis of GBS.

s of Poster Presentations / Clinical Neurophysiology 125, Supplement 1 (2014) S1–S339 S269 Figure 2. The relationship between muscle strength and transcranial stimulation motor evoked potential. Conclusions: There is the positive relation between the MEP amplitude and the muscle strength. So, the fixed quantity evaluation method using the statistical technique makes TCS-MEP reliable. And TCS-MEP may enhance us to remove tumors in central nervous system and at the same time preserve motor functions. Moreover this relation between MEP and muscle strength is useful for understanding the motor control system. P850 Electrophysiological pattern in GLUT1 deficiency syndrome (A275T mutation) C. Giliberto1, V. Sofia1, R. Barone2, R. Guerrini3, M. Zappia1 1University of Catania, Department G.F. Ingrassia, Section of Neurosciences, Catania, Italy; 2University of Catania, Pediatric Neurology, Department of Pediatrics, Catania, Italy; 3University of Florence, Pediatric Neurology, Unit and Laboratories, Children’s Hospital A. Meyer, Florence, Italy Question: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is characterized by impaired glucose transport across the blood-brain barrier due to SLC2A1-gene mutation. GLUT1DS infancy onset shows epileptic encephalopathy, ataxia and microcephaly although paroxysmal exerciseinduced dyskinesia and epilepsy may also be observed. Exercise and recovery-induced modifications of GLUT4 and GLUT1 expression in human muscle have been reported.We describe clinical and electromyographyc correlates of a GLUT1DS patient with adult-onset of exercise-induced dystonia. Patients and methods: A 19 year old male with mild mental retardation presented with a two-year history of episodic stiffness in his calves and feet and painless flexion of the toes followed by leg weakness triggered by exertion and starvation and alleviated by rest and eating. His father had experienced exercise-induced leg dystonia at younger age. A heterozygous missense of mutation (c.823G>A; p.A275T) of SLC2A1 gene was found in the proband and his father.The proband underwent an electromyographyc study after voluntary contraction (5 minutes) to investigate muscle membrane excitability with the evaluation of compound muscle action potential (CMAP) amplitude. Results: The test disclosed significant decrement of CMAP amplitude up to −42% (n.v.≤−20%) after 40 minutes from exercise with respect to the pre-exercise CMAP amplitude (baseline). The same test repeated after carbohydrate-rich food intake showed a significant improvement of CMAP from baseline (−26%). Conclusions: The electrophysiological study after exercise showed a reduction of CMAP amplitude in this patient with GLUT1DS (A275T mutation). Our data suggest a possible involvement of muscle membrane excitability in GLUT1DS. P851 Tracking the spatiotemporal profile of cortical and peripheral motor axon hyperexcitability in amyotrophic lateral sclerosis E. Bakola1, P. Kokotis1, R. Carr2, M. Schmelz2, M. Rentzos1, T. Zambelis1, N. Karandreas1 1University of Athens, Medical School, Department of Neurology, Athens, Greece; 2University of Heidelberg, Mannheim Medical School, Department of Anesthesiology, Mannheim, Germany Question: Recent studies using magnetic and electrical excitability tracking tools have confirmed early hyperexcitability in ALS. This study sets out to use excitability testing to examine directly the spatiotemporal profile of cortical and peripheral hyperexcitability in ALS patients simultaneously, to associate these parameters to the clinical course of the disease and to compare them with healthy controls. Methods: Nineteen patients with first-diagnosed definite ALS (group A), four patients with advanced disease (group B) and ten control healthy volunteers (group C) were included in the study. Multiple axonal excitability properties (threshold electrotonus, strength-duration time constant, recovery cycle, current-threshold relationship) and TMS investigations including measurement of resting motor threshold (RMT) and motor evoked potential (MEP) were measured. Results: In group A there were greater changes in depolarizing threshold electrotonus (TD) compared with group B (t-test p<0.03). No differences in recovery cycle, strength-duration time constant, current-threshold relationship were noted between the three groups. Regarding the cortical excitability parameters, there was a significant decrease in the slope of MEP amplitude to TMS intensity in group B with the advanced disease in comparison to controls (Mann-Whitney U test p<0.05). ANCOVA showed strong correlation between TD and slope of cortical excitability (p<0.01) after correcting for the status of the disease (groups A,B,C). Conclusions: These are preliminary results of an ongoing study trying to understand the changes in axonal and cortical excitability in first-diagnosed and advanced disease in order to provide insight into the pathophysiological basis of the disease and furthermore provide useful information for the best treatment approach in the future. References: [1] Bae JS, et al. The puzzling case of hyperexcitability in amyotrophic lateral sclerosis. J Clin Neurol 2013 Apr;9(2):65-74. [2] Khedr EM, et al. Cortical excitability of amyotrophic lateral sclerosis: transcranial magnetic stimulation study. Neurophysiol Clin 2011 May;41(2):73-9. [3] Shibuta Y, et al. Increased variability of axonal excitability in amyotrophic lateral sclerosis. Clin Neurophysiol 2013 May 29. P852 Temporal profile of the effects of regional anesthesia on the cutaneous silent period of foot muscles I. Araujo Mota1,2, X. Sala-Blanch2, J.B. Fernandes2, M. Neves Cardoso2,3, J. Valls-Sole2 1Federal University of Paraiba, Joao Pessoa, Brazil; 2Hospital Clinic University of Barcelona, Barcelona, Spain; 3Hospital Santo Antonio, Servico de Neurofisiologia, Porto Portugal, Portugal Question: It is commonly accepted that cutaneous silent period (CuSP) is mediated by small fibers but median size or large afferents may also contribute. We examined the effects of blocking pain afferents by regional anesthesia on the silent period latency and duration in foot muscles. Methods: We studied 10 patients with indication for surgical treatment of hallux valgus before and after ultrasound-guided popliteal sciatic nerve block (US-SPB). CuSP was obtained from the extensor digitorum brevis muscle to high intensity electrical stimuli applied to the big toe with ring electrodes. We also obtained the sympathetic skin response (SSR) from both feet to the same electrical stimulus and the skin temperature variation using an infrared thermometer. We evaluated motor fibers through the analysis of F waves. Results: The SSR showed an early block of the efferent sudomotor fibers (mean of 4.5 m), which was almost immediately followed by a decrease in CuSP duration and a delay in CuSP onset latency. At the same time there was also an increase in temperature in the ipsilateral leg and a decrease in the contralateral one. The CuSP end latency remained unaltered up to

European Journal of NeurologyVolume 20, Issue 1 p. e24-e25 Letter to the Editor Man-in-the-barrel syndrome due to Klippel–Feil deformity C. Giliberto, C. Giliberto Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalySearch for more papers by this authorS. Giuffrida, S. Giuffrida Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalySearch for more papers by this authorL. Nastasi, L. Nastasi Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalySearch for more papers by this authorF. Cicirata, F. Cicirata Department of Biomedical Sciences, Section of Physiology, University of Catania, Catania, ItalySearch for more papers by this authorN. Platania, N. Platania Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalySearch for more papers by this authorV. Albanese, V. Albanese Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalySearch for more papers by this authorM. Zappia, Corresponding Author M. Zappia Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalyCorrespondence: M. Zappia, MD, Department GF Ingrassia, Section of Neurosciences, University of Catania, Via S. Sofia 78, 95123 Catania, Italy (tel.: +39 095 3782783; fax: +39 095 3782741; e-mail: m.zappia@unict.it).Search for more papers by this author C. Giliberto, C. Giliberto Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalySearch for more papers by this authorS. Giuffrida, S. Giuffrida Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalySearch for more papers by this authorL. Nastasi, L. Nastasi Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalySearch for more papers by this authorF. Cicirata, F. Cicirata Department of Biomedical Sciences, Section of Physiology, University of Catania, Catania, ItalySearch for more papers by this authorN. Platania, N. Platania Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalySearch for more papers by this authorV. Albanese, V. Albanese Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalySearch for more papers by this authorM. Zappia, Corresponding Author M. Zappia Department GF Ingrassia, Section of Neurosciences, University of Catania, Catania, ItalyCorrespondence: M. Zappia, MD, Department GF Ingrassia, Section of Neurosciences, University of Catania, Via S. Sofia 78, 95123 Catania, Italy (tel.: +39 095 3782783; fax: +39 095 3782741; e-mail: m.zappia@unict.it).Search for more papers by this author First published: 22 December 2012 https://doi.org/10.1111/ene.12002Citations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume20, Issue1January 2013Pages e24-e25 RelatedInformation

Previous MR studies have established that bilateral transverse sinus stenosis (BTSS) predicts idiopathic intracranial hypertension without papilledema (IIHWOP) in migraine. However, it is uncertain whether BTSS identifies IIHWOP in patients with chronic tension-type headache (CTTH): using cerebral MR venography this study aimed to address this question.In a prospective study from February 2002 to December 2006, 198 consecutive patients with CTTH underwent MR venography. Of these patients, 58 underwent lumbar puncture to measure cerebrospinal fluid (CSF) pressure. MR venography and lumbar puncture were also performed in 45 age-matched control subjects. BTSS was considered present when the signal flow was poor or lacking (flow gap) in the mid-lateral portion of both transverse sinuses. IIHWOP was diagnosed if the patient met the diagnostic criteria for idiopathic intracranial hypertension and did not have papilledema. Among the 198 patients with CTTH who underwent MR venography, 18 (9%) had BTSS. Thirteen of these 18 patients with BTSS underwent lumbar puncture, and nine (69.2%) had IIHWOP. CSF opening pressure was normal in all 45 patients as well as in all 45 controls with normal MR venography.These data suggest that BTSS on MR venography is associated with increased intracranial pressure in the absence of papilledema in patients with headache mimicking CTTH.

Background: The headache profile of patients with idiopathic intracranial hypertension without papilledema (IIHWOP) may be indistinguishable from that of migraine. Bilateral transverse sinus stenosis (BTSS) has been found in the majority of patients with IIHWOP. The frequency of BTSS associated with IIHWOP in patients with migraine is unknown. Objective: To detect the frequency of BTSS in adult patients with migraine and to investigate whether the presence of BTSS identifies patients with IIHWOP. Methods: In a prospective study from December 2000 to November 2005, 724 consecutive patients with recurrent headaches who fulfilled International Headache Society diagnostic criteria for migraine underwent cerebral MR venography (MRV). A portion of these patients underwent a lumbar puncture (LP) to measure CSF pressure. MRV and LP were also performed in 70 age-matched control subjects. Results: Six hundred seventy-five of the 724 patients with migraines had normal MRV. Seventy of these 675 patients underwent LP, and all of them had normal CSF pressure. Forty-nine (6.7%) of the 724 patients with migraine had BTSS. Twenty-eight of these 49 patients with BTSS underwent LP, and 19 (67.8%) had IIHWOP. The headache profiles of patients with BTSS and IIHWOP did not differ from those of patients with normal MRVs and CSF pressures within normal limits. CSF pressure was normal in both patients and controls with normal MRV. Conclusions: Of patients with migraine, 6.7% had bilateral transverse sinus stenosis; 67.8% of these patients had idiopathic intracranial hypertension without papilledema (IIHWOP). These results suggest that patients with migraine who present bilateral transverse sinus stenosis on cerebral MR venography should undergo lumbar puncture to exclude IIHWOP.

BACKGROUND:Bilateral transverse sinus (TS) stenosis has been found in more than 90% of patients with idiopathic intracranial hypertension (IIH).OBJECTIVE:To evaluate whether TS stenosis changed after normalization of CSF pressure in patients with IIH during medical treatment.METHODS:Fourteen consecutive patients with IIH with bilateral TS stenosis on cerebral MR venography (MRV) during the medical treatment were studied. Patients were followed for over a 6-year period. During the follow-up, patients underwent repeated lumbar punctures (LPs) and cerebral MRV. MRV was always performed before each LP.RESULTS:TS stenosis persisted in all the patients during the follow-up. In 9 of 14 (64%) patients with IIH, CSF pressure normalized during medical treatment.CONCLUSIONS:Transverse sinus (TS) stenoses, as revealed by MR venography, persist in patients with idiopathic intracranial hypertension after normalization of CSF pressure, suggesting the lack of a direct relationship between the caliber of TS and CSF pressure.