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WOS: 000430763800010 PubMed ID: 29395671 The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. (C) 2017 Elsevier B.V. All rights reserved.

Conclusion: Results of our study indicated that PPT is effective significantly and positively especially on the non-motor complications, by increasing effort capacity and walking distance in the patients with PD.

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe. (C) 2017 Elsevier B.V. All rights reserved.

50th European-Society-of-Human-Genetics (ESHG) Conference -- MAY 27-30, 2017 -- Copenhagen, DENMARK WOS: 000489312608096 … European Soc Human Genet

PMID = 24341125

Background: COVID-19 is a multisystemic infection with variables consequences depending on individual and comorbid conditions. The course and outcomes of COVID-19 during neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD) are not clearly known. Objective methods: the aim of this study was to examine the features and outcomes of COVID-19 infection in NMOSD and MOGAD patients. The patients' demographic and clinical factors, disease modifying treatment (DMT) used and disease information of COVID-19 infection were recorded. Conditions leading to hospitalization and severe exposure to COVID-19 infection were also analyzed. Results: the study included 63 patients from 25 centers. Thirty-two patients (50.8%) belong to AQP-4 seropositive group, 13 (20.6%) and 18 (28.6%) were in MOG-positive and double-seronegative groups, respectively. Risk factors for severe COVID-19 infection and hospitalization were advanced age, high disability level and the presence of comorbid disease. Disease severity was found to be high in double-seronegative NMOSD and low in MOGAD patients. No statistically significant effect of DMTs on disease severity and hospitalization was found. Conclusion: in NMOSD and MOGAD patients, advanced age, high disability and presence of comorbid disease pose risks for severe COVID-19 infection. There was no direct significant effect of DMTs for COVID-19 infection., NA

Background: Fabry disease (FD) is known as a rare cause of stroke. Recent studies suggested that FD is an underdiagnosed entity among young stroke patients. We aimed to investigate the frequency of FD in young cryptogenic stroke patients who lived in the City of Sakarya and to define the clinical features that help in recognizing patients with FD. Methods: Acute ischemic stroke patients aged 1855 years who were admitted to our hospital between October 2013 and September 2016 were evaluated for inclusion. Patients with other recognized causes of stroke were excluded. The screening was performed for alpha-galactosidase A (alpha-Gal A) activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low plasma alpha-Gal A activity. Results: Among the 484 acute ischemic stroke patients, 54 (24 male, 44.4%) young cryptogenic stroke patients were enrolled. The alpha-Gal A activity was detected as low in 3 patients. c.[680G > A] p.[R227Q] missense mutation was identified in 2 male patients. The frequency of FD was calculated as 3.7%. Conclusions: Our research is the first FD screening study in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients as it is a rare but potentially treatable entity.

Introduction Hereditary ataxias are a group of heterogeneous diseases in regard to their clinical and genetic characteristics. Ataxia that progresses slowly may be accompanied by pyramidal and extrapyramidal findings, articulation disorders, ophthalmic movement disorders, neuropathic complaints, cognitive and behavioral abnormalies, and epilepsy. Definitive diagnosis in hereditary ataxias is based on molecular assays. History, clinical examination, laboratory and neuroimaging assist diagnosis. In our study, thirty-seven patients of suspected hereditary ataxia were examined with their clinical and genetic aspects, and the results compared with literature. Method Our study included 37 patients in 22 families who presented to our center between 2010-2016, and whose familial history and phenotypic features indicated hereditary ataxia. The patients were studied for clinical findings, family tree, neuroimaging, and laboratory findings. Advanced genetic investigations were performed on peripheral venous blood samples for hereditary ataxia. Results Of the 37 patients included in our study, 21 were females and 16 were males. Genetic analyses resulted in spinocerebellar ataxia (SCA) in four families (10 patients), Friedrich ataxia (FA) in three families (eight patients), and recessive ataxia due to point mutation in one family (two patients). SCA subtyping revealed SCA 1, 2, 6 and 8 in our patients. The remaining 16 patients included in our study could not be solved so far and are under investigation. Conclusion Hereditary ataxias are rare neurodegenerative disorders. Large genetic pool, ethnic and local differences complicate diagnosing even further. Our study contributes to the literature by reflecting phenotypic and genotypic characteristics of hereditary SCA patients in our region and reporting rare hereditary ataxia genotypes.

Parkinson disease is a progressive, neurodegenerative disease with an increasing incidence of age. It is thought that genetic factors in etiology may be the underlying cause together with environmental factors. Sporadic cases are seen in 85 %, familial forms in 10-15 %, and single gene inheritance in 5 %. In this article, we present a patient with early-onset Parkinson disease who had family history but negative genetic analyses. Genetic mutations of autosomal recessive early-onset parkinsonism are more frequently evaluated in clinical practice and are directed to be analyzed more frequently in a selected group of patients.

Objective The Adamkiewicz artery (AKA) supplies pudendal nerve roots and conus medullaris. The aim of this study was to elucidate if there is any relationship between neurodegenerative changes of the Onuf nucleus (ON)–pudendal nerve ganglia complex secondary to vasospasm of the AKA after spinal subarachnoid hemorrhage (SAH). Methods This study was conducted on 22 rabbits, which were randomly divided into 3 groups: control (n = 5), sham (n = 5), and spinal SAH (n = 12). Experimental spinal SAH was induced at the L2 level. After 2 weeks, the ON–pudendal nerve ganglia complex and AKA were examined histopathologically. Bladder volume values were estimated, and results were analyzed statistically. Results Two animals died within the first week of experiment. Histopathologically, severe vasospasm of the AKA and neuronal degeneration and neuronal apoptosis were observed in the ON–pudendal nerve ganglia complex in 5 animals of the SAH group. The mean volume of the imaginary AKA, mean bladder volumes, and degenerated neuron densities of ON and pudendal nerve ganglia were estimated. We found that vasospasm of the AKA led to numerous neuron degenerations in ON and pudendal ganglia and consequently urinary retention (P Conclusions ON–pudendal nerve ganglia complex degeneration secondary to vasospasm of the AKA may be a cause of urinary retention after spinal SAH.

The choroid plexus (CP) performs multiple functions such as secretion and reabsorption. CP also acts as the blood-cerebrospinal fluid barrier. Prolidase plays an important role in collagen metabolism by degrading imidodipeptides, in which proline or hydroxyproline residue is located at the C-terminal end. Serum prolidase activity (SPA) may reflect the degree of fibrosis and inflammation. Choroid plexus calcification (CPC) is considered as the physiological calcification of the brain, and CPC is diagnosed by the presence of calcification in the anatomical region on computed tomography (CT). Here, CPC and non-calcified CP were defined by Hounsfield Units (HU) values of > 150 and < 50, respectively. We aimed to measure SPA in subjects with CPC and those with non-calcified CP. This study included 89 subjects who were admitted to the neurology clinic and underwent CT: 44 subjects with CPC and 45 subjects with non-calcified CP. The neurological examination of all subjects was normal; namely, the subjects with CPC were asymptomatic. The SPA level was significantly higher in the CPC group than that in the non-calcified CP group (p < 0.002), and there was a significant positive correlation between vitamin D and SPA levels in the CPC group. In contrast, the vitamin D and parathyroid hormone levels were higher in the CPC group, but the difference was not statically significant (p > 0.05). These findings indicate that SPA is a biomarker for CPC that may be predictive of future brain disease.

DIZDAR, DENIZHAN/0000-0002-0991-2706; DIZDAR, DENIZHAN/0000-0002-0991-2706; WOS:000394351800029 PubMed: 27577041 Olfactory dysfunction and migraine has been associated for a long time. In this study, we planned to compare olfactory functions in patients with migraine and osmophobia with patients having migraine but no osmophobia, in addition with a normal control group using "Sniffin' Sticks'' test. The main distinction of this study is that all qualitative and quantitative properties of olfactory functions; threshold, discrimination and identification, are evaluated separately and jointly. Thirty healthy person aged between 16 and 56 (18 women, 12 men) and 60 migraine patients aged between 15 and 54 (39 women, 21 man) were included in the study. All patients have been inquired about osmophobia and have been assessed with Hedonic tone assessment. Osmophobia has been tested for perfume, cigarette smoke, leather, stale food, soy sauce, fish, spices and coffee smells. Olfactory functions has been assessed with "Sniffin' Sticks'' smell test. Thresholds, discrimination and identification have been determined for each patient. In migraine patients with osmophobia, threshold was 7.75 +/- 2.3, in migraine patients without osmophobia threshold was 8.25 +/- 1.5 and threshold was 10.75 +/- 1.3 for the control group. Discrimination score was 6 +/- 1.2 in migraine patients with osmophobia, 9 +/- 0.8 in patients without osmophobia and was 12 +/- 1.4 in the control group. In migraine patient with or without osmophobia Threshold/Discrimination/Identification (TDI) scores were lower than the control group. The most important parameter in our study is that discrimination scores were especially lower in patients with osmophobia. We believe that this decrease in discrimination in migraine patients with osmophobia; who claim that they smell everything and they are sensitive to all smells, is significant. Further studies about smell discrimination will help better understand some conditions; especially anosmia and hyposmia after upper respiratory tract infections and parosmia.

Conclusions: We aimed to improve our understanding of the importance of non-motor symptoms of the PD such as voice and speech problems. Consistent with the literature, the current study suggests that LSVT is an effective method to manage speech problems of PD.

Objective Orexins are hypothalamic neuropeptides that are involved in feeding, neuroendocrine regulation, sleep-wakefulness and sleep disorders (such as narcolepsy). This study investigated the relationship between serum and cerebrospinal fluid (CSF) orexin-A concentrations and infarct volume, in patients with ischaemic stroke. Methods Serum and CSF concentrations of orexin-A were determined 48–72 h after the onset of ischaemic stroke in patients, then compared with those of healthy control subjects of comparable age. Infarct volumes were measured using computerized tomography, 48–72 h after hospitalization. Results Mean serum and CSF orexin-A concentrations were significantly lower among ischaemic stroke patients ( n = 29) compared with control subjects ( n = 13). There was a significant inverse correlation between infarct volumes and CSF orexin-A concentrations in patients with ischaemic stroke. Conclusion These data show that serum and CSF orexin-A concentrations decrease after cerebral ischaemia and may play a role in the development of brain injury. The orexin-A concentration in the CSF might be a useful biomarker for the assessment of progression of brain tissue damage during the early stages of ischaemic stroke.

Conclusion - In this study, demyelinating form was more frequent than axonal form. A total of 2 g/kg dose of IVIg treatment administered for 5 days as a standard in GBS patients ensured a significant improvement on both disability and early and late administration and early administration of the treatment does not lead to any difference in intensive care unit and rehabilitation requirements.

We observed hyperreflexia in the course of the motor axonal neuropathy form of Guillain-Barre syndrome (GBS). Herein, we would like comment on a rare case. Acute motor axonal neuropathy (AMAN) is a type of GBS accompanied by peripheral axonal involvement where acute motor paralysis, loss of reflex or hyporeflexia, insignificant sensory loss, and albumino-cytologic disproportion in cerebrospinal f luid are seen with no demyelinating findings in electromyography (EMG). [1] Commonly known as acute inflammatory demyelinating polyneuropathy (AIDP), GBS’s spectrum has expanded in recent years to include variants with unusual attributes. Types such as AMAN and acute motor or sensorial axonal neuropathy have also begun to be more understood. In AMAN, there is an axonal damage with underlying inflammation of the peripheral nerves without demyelination. In the underlying etiology, Campylobacter jejuni, cytomegalovirus, Epstein-Barr virus, inf luenza, mycoplasma, coxsackie virus, and hepatitis viruses, previous surgery, delivery, or some vaccinations are shown to be related causes. [2,3] Motor conduction

CONCLUSIONS: High serum levels of IL-1 beta, IL-6 and TNF-alpha in the migraine attack group indicate that inflammation plays a major role in migraine pathogenesis. In particular, the high ESM-1 and CLDN5 levels in patients with migraine suggest that inflammation should be investigated further, it may be a useful tool in the differential diagnosis of migraine.

Introduction Autoimmune neurological syndrome is a group of disorders caused by cancer affecting nervous system by different immunological mechanisms. In this study, we aim to study the clinical symptoms, cerebrospinal fluid (CSF) findings, autoantibody tests, computed tomography (CT), magnetic resonance imaging (MRI) signs and treatment outcome of patients with autoimmune syndromes. Methods In this study, 7 patients (4 male, 3 female) diagnosed with autoimmune neurological syndrome were retrospectively examined. Results Five of patients were diagnosed with limbic encephalitis, two of them were paraneoplastic cerebellar degeneration. Confusion and seizure were the most seen symptoms. Two patients had psychiatric disturbances (28,5%) followed by seizure. Headache was seen in 2 patients (% 28,5), disartria in 1 patient (% 14,2), and gait disorder in 2 patients (28,5%). The duration of symptoms was 46 (3–150) days on average. CSF abnormalities were detected in 2 patients. CT and MRI of the brain was available in all patients. Five patients had involvement of mesiotemporal region, two patients had diffuse cerebellar atrophy. One of patients had anti-GABAR B1 positivity. Tumors were detected in 2 patients while investigation for paraneoplasia screening. Conclusion Remission is only possible with the detection and treatment of the malignancy. Early diagnosis and treatment are of paramount importance.

Photophobia is defined as a painful psychosomatic discomfort triggered by intense light flow through the pupils to the brain, but the exact mechanism through which photophobia is induced by subarachnoid hemorrhage (SAH) is not well understood. In this study, we aimed to investigate whether there was any relationship between the mydriasis induced by the degeneration of the ciliary ganglion (CG) and photophobia in instances of SAH.Five of a total of 25 rabbits were used as the intact control group; five were used in the sham-operated control group; and the remaining 15 were used as the SAH group, which was created by injecting autologous blood into their cisterna magna. All animals were examined daily for 20days to evaluate their level of photophobia, after which their brains, CGs and superior cervical ganglia (SCGs) were extracted bilaterally. The densities of normal and degenerated neurons in these ganglia were examined by stereological methods.In SAH animals with a high photophobia score, the mean pupil diameter and density of degenerated neurons density in the CG were greater than in cases with a low photophobia score (p0.05). Further analysis revealed that the increase in the density of degenerated neurons in the CG following SAH resulted in the paralysis of the parasympathetic pathway of the pupillary muscles and mydriasis, which facilitates the excessive transfer of light to the brain and photophobia.Our findings indicate that SAH results in a high density of degenerated neurons in the CG, which induces mydriasis and is an important factor in the onset of photophobia. This phenomenon is likely due to more light energy being transferred through mydriatic pupils to the brain, resulting in vasospasm of the supplying arteries.

Objective: Identification of causative mutations in 3 consanguineous families (with 4 affected members) referred to our center with young-onset motor neuron disease and overlapping phenotypes resembling autosomal recessive juvenile amyotrophic lateral sclerosis (ARJALS) and autosomal recessive hereditary spastic paraplegia (ARHSP). Methods: Patients have a slowly progressive motor neuron disease with upper and lower motor neuron dysfunction. There is distal muscle weakness and atrophy associated with pyramidal signs. Whole-exome sequencing was performed on the patients and the unaffected parent samples to identify disease-causing mutations. Variants were prioritized according to their predicted pathogenicity and their relevance to the clinical phenotypes. Results: Five distinct homozygous mutations within the SPG11 gene were identified, 3 of which were novel and truncating: c.7155T>G/p.Tyr2385Ter, c.2250delT/p.Phe750Leufs*3, and c.1966_1967delAA/p.Lys656Valfs*11. The copresence of 2 distinct homozygous missense variations was observed in 2 families: c.6224A>G/p.Asn2075Ser and c.7132T>C/p.Phe2378Leu. The segregation of these variations in the family members was validated by Sanger sequencing. Conclusions: Four patients with juvenile-onset motor neuron disease with consanguineous parents were found to carry homozygous mutations in the SPG11 gene. Our findings confirm the overlapping phenotypes of SPG11 -based ARJALS and ARHSP, indicating that these 2 entities may be the extreme phenotypes of the same disease continuum with many common features. This, in turn, confirms the difficult differential diagnosis of these 2 diseases in the clinic.

PubMedID: 25681989 The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population. © 2015 Elsevier Inc. 99HB0101 02OB0101 04B101D 08HB102 10B01P8 11B01P6 TUBITAK-SBAG2007 COST-TUBITAK-SBAG2007 TUBITAK-EVRENA-SBAG2009 British Association for Psychopharmacology This study was supported by Suna and İnan Kıraç Foundation (SVIKV) (2005–2008, 2008–2011, 2011–2014) , Bogazici University (Grant number 99HB0101 02OB0101 04B101D 08HB102 10B01P8 11B01P6) Research Funds (BAP), and The Scientific and Technological Research Council of Turkey (TUBITAK-SBAG2007 COST-TUBITAK-SBAG2007 TUBITAK-EVRENA-SBAG2009) . We gratefully acknowledge their generous contributions. We thank Ilknur Yıldız, Selda Dağdeviren, Irmak Şahbaz, Alireza Khodadadi Jamayran, Helena Alstermark, and Anna Birve for their excellent technical assistance. We extend our thanks to Professor Jeffrey D. Macklis (Harvard Medical School, MA, USA) and Professor Peter Andersen (Umea University, Umea, Sweden) for their constructive contributions to this study; to Professor Coşkun Özdemir and Dr Sevtap Savaş for the critical reading of the manuscript; and to Cemile Koçoğlu, Fulya Akçimen, and Hamid Hamzeiy for their assistance in the preparation of the figures and tables. Last but not least, we cordially thank our patients, their families, and the Turkish ALS Association for their invaluable cooperation. This study is dedicated to the memory of our esteemed collaborator Dr Hilmi Özçelik, who passed away on May 2, 2013. Appendix A

Choroid plexus is an intraventricular plexus of tissue which is responsible for secretion of cerebrospinal fluid. Calcification of choroid plexus is found to be associated with age and gender. One of novel and popular glycoprotein that involves in inhibition of mineralization is human fetuin-A. In our study, we investigated plasma levels of fetuin-A in subjects with and without choroid plexus calcification. For this purpose, 41 subjects with choroid plexus calcification and 41 age and gender matched subjects with normal appearing choroid plexus were recruited. Calcified and normal choroid plexus tissue identified on computed tomography images. Overnight fasting venous blood samples were collected to measure serum fetuin-A levels using a human fetuin-A enzyme-linked immunosorbent assay kit. Statistically significant difference concerning the median concentration of fetuin-A was found between subjects with and without choroid plexus calcification (p: 0.040). Significance was also present between male subgroups (p: 0.017) and 18-27 years age subgroups (p: 0.025). Our results suggest that fetuin-A has an potent role in calcification process of choroid plexus. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

Although cerebral venous thrombosis (CVT) is mostly seen in young adults, it is a disease that affects all age groups, has a broad range of symptoms, and usually carries a good prognosis. Extensive tests and examinations are needed to determine its etiology. Even in the presence of a marked risk factor, genetic thrombotic factors should be systematically investigated. Thrombotic gene mutations are among the most important hereditary causes of coagulation defects. Single gene mutations may be observed, as well as multiple gene mutations can rarely be detected. Here, we report three patients with cerebral venous thrombosis who had multiple gene mutations.

Plasma levels of the oxidants xanthine oxidase, nitric oxide and malondialdehyde and the antioxidants superoxide dismutase, glutathione peroxidase and glutathione reductase, together with total superoxide scavenger activity and non-enzymatic superoxide scavenger activity, were determined in 19 patients with acute ischaemic stroke and 20 controls. Compared with controls, superoxide dismutase, total superoxide scavenger activity, glutathione peroxidase and glutathione reductase activities were significantly lower, and nitric oxide and malondialdehyde levels significantly higher, in acute stroke patients. Xanthine oxidase showed a slight but non-significant increase in stroke patients compared with controls. There was no significant difference in non-enzymatic superoxide scavenger activity between the two groups. There was a positive correlation between glutathione reductase levels and Glasgow Coma Scale scores, and a negative correlation between malondialdehyde levels and non-enzymatic superoxide scavenger activity. These findings suggest that oxidative stress in patients with acute ischaemic stroke may be the result of an imbalance in oxidant/antioxidant homeostasis.

The diaphragm pacing system (DPS) is a life quality improving operation in amyotrophic lateral sclerosis (ALS) patients who need mechanical ventilation or have chronic respiratory insufficiency. This procedure is gaining in popularity, and the number of centers implanting diaphragm pacing systems (DPS) is increasing. DPS delays the need for a ventilation machine in the early stages of Amyotrophic lateral sclerosis (ALS) disease. In this case study, we present a young female ALS patient. A DPS was implanted after respiratory insufficiency began. In the one-year follow-up period following her operation, her need for ventilatory support disappeared.

Background Several studies have been conducted on the inflammatory aspects of migraine. Pentraxins are a novel and important part of innate immunity as a superfamily of acute phase proteins. In our study, we aimed to demonstrate the relationship between migraine and the serum levels of pentraxin-3 (PTX-3), C-reactive protein (CRP), fibrinogen and D-dimer. Methods We recruited 30 migraine patients (in both the attack and interictal period) and 30 healthy controls. Serum samples were obtained from all participants, and a brain MRI performed in the last six months was assessed regarding the presence of deep white matter lesions. Comparisons between the attack, interictal and control groups regarding the serum levels of PTX-3, CRP, fibrinogen and D-dimer were performed. The association between serum PTX-3 levels and migraine characteristics (disease duration, headache frequency, MRI findings, aura, family history, attack duration, and MIDAS score) was also assessed. Results We found higher serum levels of fibrinogen and PTX-3 in migraine attack patients compared with the interictal and control groups ( p = 0.03 and p Conclusions PTX-3 and fibrinogen exhibit different serum levels in patients undergoing a migraine attack compared with the interictal group and the controls. Participants with longer attacks and disease durations have lower serum levels of PTX-3, suggesting that inflammatory processes change along with disease progression.

PURPOSE: F-wave analysis may help affirm or disprove a compression neuropathy. In this study we have analysed the effects of focal median nerve injury on F wave in Carpal Tunnel Syndrome (CTS). METHOD: We studied 57 patients (100 hands) with clinical and electrophysiological CTS and 31 (62 hands) healthy subjects. Median nerve F-waves were evaluated following 10 supramaximal stimuli and recording from abductor pollicis brevis muscles. Minimum, maximum, and mean F-wave latencies, frequency of the F wave (F-p), chronodispersion (F-CD), mean F/M amplitude ratios (mF/M-amp) and F-wave conduction velocity (FwCV) were evaluated. RESULTS: The CTS patients showed prolonged F-wave latencies, decreased Fp, and an increase of the FCD as compared with normative values. Absent F wave was presented in 8 of 34 hands (23.5%) with severe CTS patients. In the severe group, the FwCV was significantly slower (p < 0.001) and the mF/M-amp was significantly higher (p < 0.001) than that of mild and moderate groups, respectively. Also, the mF/M-amp was significantly greater and Fp was lower in the axonal type than in the demyelinating type. The FCD was not different among groups. A strong positive correlations between mMDL with Fmin (r = 0.81, p < 0.000), Fmean (r = 0.80, p < 0.000) and Fmax (r = 0.71, p < 0.000) were revealed. CONCLUSION: Results support the differing effects of demyelinating and axonal injury on F-waves and suggest that the mF/M-amp ratio and FwCV, which is influenced by neuronal damages in the distal segment of the median nerve, is useful in the discrimination of CTS severity.

Objectives To assess nasal cycle, nasal mucosal pH and mucociliary clearance time in patients with Parkinson’s disease and healthy control subjects. Methods Patients with idiopathic Parkinson’s disease and healthy control subjects were recruited. Presence of the nasal cycle, nasal mucosa pH and mucociliary clearance time were investigated in all participants. Results The study included 27 patients and 24 control subjects. The nasal cycle was present in significantly fewer patients than controls. Nasal pH and mucociliary clearance time were significantly higher in patients than in controls. Conclusions Parkinson’s disease is associated with alterations in nasal cycle, nasal mucosa pH and mucociliary clearance time. Measurements of these nasal parameters may be useful for the early diagnosis of autonomic and olfactory dysfunction in Parkinson’s disease.

CONCLUSION: BCCAL may lead to important beneficial and hazardous histomorphological changes at the posterior communicating artery. The high neuron density of TGG may provide a beneficial effect by facilitating PComA enlargement via its vasodilatory properties for the increase of decreased cerebral circulation, although this situation may be hazardous for certain subjects with congenital or acquired cerebrovascular pathologies.

Myotonia congenita is a rare muscular disorder with autosomal dominant or autosomal recessive inheritance, and is characterized by painless myotonia. A 44-year-old mother presented at our clinic with a son and a daughter, all sharing the same complaints of difficulty in relaxing their hands and beginning to walk, and spasms during chewing. The family had also another 16-year-old daughter, but she had no such complaints. The mother reported that her father and 2 sisters had the same disease, but that her brother was healthy. Their pedigree analysis revealed that the disease was present for 3 generations and had an autosomal dominant trait. During the neurologic examination of cases, action and percussion myotonia were observed in the hand, arm, and leg muscles. Her asymptomatic daughter had also generalized myotonia. Needle electromyography of all cases revealed generalized myotonic discharges in the muscles examined. The cases are presented due to the presence of MC in 3 generations of the family. This case study reveals that EMG studies are useful in determining myotonic disorders in asymptomatic cases.