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ABSTRACT: AIM: The association between migraine and cerebrovascular disease is well documented in younger migraine patients, especially those with aura. Prevalence estimates of vascular risk factors among elderly migraine sufferers are lacking. The present study was designed to estimate the prevalence of vascular risk factors in the elderly population with late onset of migraine without aura. METHODS: The medical records of 163 patients aged 50 years and older suffering from migraine without aura were assessed for vascular risk factors, including hypertension, elevated serum lipid levels, diabetes mellitus and cardiovascular disease. Prevalence was estimated and compared with age- and sex-matched vascular risk factor estimates for the general population extracted from the 2003-2004 Israeli National Health Interview Survey, and to a group of patients matched by age suffering from migraine with aura. RESULTS: Among women with migraine without aura, hypertension, hyperlipidemia and diabetes mellitus were significantly less prevalent than among women without migraine without aura. Prevalence estimates for vascular risk factors did not differ by migraine among males. The group of older patients suffering from migraine with aura showed a higher incidence of vascular risk factors in respect to the group of migraine patients without aura. CONCLUSIONS: The findings of the present study might have an important clinical relevance, suggesting another pathophysiological process in respect to patients suffering from migraine with aura, and this evidence might have different therapeutic implications. Geriatr Gerontol Int 2013; ●●: ●●-●●.
Geriatrics & Gerontology International 05/2013;
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ABSTRACT: Abstract Traumatic brain injury (TBI) is a major cause of seizures in the general population. Several studies have shown an increased risk of epilepsy after traumatic brain injury, depending on risk factors, such as severity, time post trauma, etc. The aim of our study was to evaluate the appearance of late seizures after a very mild head trauma or whiplash injury. All patients admitted to the emergency room after a very mild head trauma or whiplash injury during 2008-2010 were evaluated prospectively within 24 hours of the event and followed up one year later for evaluation of seizure appearance. The appearance of seizures in the head trauma or whiplash injury group was compared to a control group of orthopedic injury patients. A total of 2,999 patients were included in the study - 2005 patients with involvement of head and spine trauma and 994 in an orthopedic control group. Three patients (0.1%) out of the whole study group developed seizures: 2 (0.18%) in the head trauma group and 1 (0.1%) in the control group. The conclusion of the study was that post trauma seizure incidence is not significantly different in patients with very mild head or spine trauma and is similar respective to subjects with no non head or cervical spine injury. This may have medico-legal repercussions.
Journal of neurotrauma 12/2012; · 4.25 Impact Factor
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ABSTRACT: Transthyretin (TTR)-associated familial amyloid polyneuropathy (FAP) is an autosomal dominant multisystem disease with neurological and extra-neurological manifestations. It is caused by various mutations in the TTR gene leading to the formation of insoluble amyloid.
To describe the clinical and genetic findings in patients with TTR-associated FAP in Israel.
We evaluated eight patients clinically and genetically during the years 2006 to 2011.
At onset, all the patients exhibited sensory loss of the lower and upper limbs, five patients experienced muscle pain, and one patient had lower limb weakness. Five patients had autonomic nervous system manifestations, and four demonstrated evidence of amyloid cardiomyopathy. Nerve conduction studies showed sensorimotoraxonal neuropathy in all patients. Sural nerve biopsies were obtained in five patients; only three biopsies revealed amyloid deposit. In four patients of Yemenite descent, genetic analysis of the TTR gene demonstrated ser77tyr mutation. One patient of Tunisian descent and one Ashkenazi patient harbored the val30met mutation. One patient of Iranian descent showed val32ala mutation, and another Ashkenazi patient showed phe33leu mutation.
TTR-associated FAP is a progressive and fatal disease that exists in the Israeli population and is unproportionally common among Yemenite Jews. This disease may be under-diagnosed and should be considered in the differential diagnosis of any patient with rapidly progressive neuropathy, especially with autonomic involvement or extra-neural features. The absence of amyloid in nerve biopsy should not rule out the diagnosis.
The Israel Medical Association journal: IMAJ 11/2012; 14(11):662-5. · 1.02 Impact Factor
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ABSTRACT: BACKGROUND: In rare cases of cervical myelopathy, there may be a discrepancy between the sensory level and the site of cord lesion. This phenomenon is not well recognized. This study sought to investigate the characteristics of patients presenting with a false localizing thoracic sensory level. METHODS: The databases of the neurology clinics of two major tertiary medical centers were reviewed for all patients who presented in 2000-2010 with a main complaint of paraparesis and a thoracic sensory level. Those whose initial thoracic magnetic resonance scan showed no spinal cord pathology were included in the study. RESULTS: Twelve patients (mean age, 52±31 years) met the study criteria. In all cases, the pathological lesion was visualized on magnetic resonance imaging of the cervical spine or brain. Eight patients had a compressive lesion of the spinal cord and 4 had demyelinating lesions. The difference between the false localizing sensory level and the level of the cervical lesion ranged from 6 to 11 segments. CONCLUSION: Patients with a sensory thoracic level and normal findings on thoracic magnetic resonance imaging should be further evaluated with cervical spinal cord and, sometimes, brain imaging to search for potentially treatable lesions.
Clinical neurology and neurosurgery 05/2012; · 1.30 Impact Factor
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Ron Dabby
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ABSTRACT: Voltage-gated sodium channels play a pivotal role in pain transmission. They are widely expressed in nociceptive neurons, and participate in the generation of action potentials. Alteration in ionic conduction of these channels causes abnormal electrical firing, thus renders neurons hyperexcitable. So far, mutations in the Na(v)1.7 sodium channel, which is expressed in the dorsal root ganglia cells and sympathetic neurons, have been described to cause perturbations in pain sensation. Until recently, gain-of-function Na(v)1.7 mutations were known to cause two neuropathic pain syndromes: inherited erythromelalgia and paroxysmal extreme pain syndrome. These syndromes are inherited in a dominant trait; they usually begin in childhood or infancy, and are characterized by attacks of severe neuropathic pain accompanied with autonomic symptoms. Recently, small fiber neuropathy and chronic nonparoxysmal pain have been described in patients harboring gain-of-function mutations in Na(v)1.7 channel. Loss-of-function mutations in Na(v)1.7 are extremely rare, and invariably cause congenital inability to perceive pain.
Current Neurology and Neuroscience Reports 02/2012; 12(1):76-83. · 3.45 Impact Factor
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ABSTRACT: Mutations in the potassium channel gene KCNQ2, usually cause benign familial neonatal epilepsy. This is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have normal psychomotor development and spontaneous remission of seizures by 12 months of age. Since Rett and Teubel reported the first family in 1964 and the identification of KCNQ2 gene mutations in this family by Zimprich et al. in 2006, phenotypic variability has been recognized including: later onset of seizures, myokymia in isolation or accompanied by seizures, neurological deficit and mental retardation. We report a mother and son with an atypical presentation of familial neonatal epilepsy. The mother has persistent epilepsy and subnormal intelligence. The son developed a severe dyskinesia clinically compatible with multifocal myoclonus in the neonatal period that only responded to carbamazepine. He also has ataxia and delayed psychomotor development. EMG revealed a spontaneous occurrence of repetitive normal motor potentials in different muscle groups. Genetic analysis identified a heterozygous missense mutation in KCNQ2 in the child and his mother. CONCLUSION: KCNQ2 mutations can present with a neonatal onset multifocal myoclonus-like dyskinesia.
European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 12/2011; 16(4):356-60. · 2.01 Impact Factor
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ABSTRACT: Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystem disorder caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3.
To describe the clinical, electrophysiologic and pathologic findings in patients with myotonic dystrophy 2.
We evaluated 10 patients genetically, clinically and electrophysiologically during the years 2007 to 2008.
All patients were of Jewish European ancestry. Among affected individuals, eight patients had symptoms of proximal muscle weakness, two had muscle pain, and two exhibited myotonia. On physical examination six patients had severe weakness of hip flexor muscles. Seven individuals underwent cataract surgery, and cardiac involvement was seen in one case. On the initial electromyographic (EMG) examination five patients demonstrated myotonic discharges; repeated studies showed these discharges in nine cases. Six muscle biopsies showed non-specific pathological changes. Seven patients had an affected first-degree relative with either a diagnosed or an undiagnosed muscular disorder consistent with an autosomal dominant trait.
DM2 may often present with proximal muscle weakness without myotonia. EMG may initially fail to show myotonic discharges, but these discharges may eventually show in most cases on repeated EMG. Thus, DM2 may be underdiagnosed and should be included in the differential diagnosis of adult patients of Jewish European ancestry presenting with proximal lower limb weakness.
The Israel Medical Association journal: IMAJ 12/2011; 13(12):745-7. · 1.02 Impact Factor
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Clinical neurology and neurosurgery 07/2011; 113(6):518-9. · 1.30 Impact Factor
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ABSTRACT: Prophylactic antiepileptic treatment in patients with non-traumatic, non-aneurysmatic spontaneous intracerebral hemorrhage (SICH) is controversial. The purpose of our study was to assess the occurrence of seizures and neurologic outcome in SICH patients who were treated with valproic acid or a placebo for a period of one month and follow-up of one year in a hospital inpatient neurologic department and ambulatory clinic settings. The study is a prospective randomized, double-blind, placebo-controlled clinical trial. The patients were treated for one month with either valproic acid (VPA) or placebo immediately after a SICH and were followed-up for one year to evaluate seizure rate and neurologic function as measured by the National Institutes of Health Stroke Scale (NIHSS). Seventy-two patients participated in the study--36 were treated with VPA and 36 with placebo. During follow-up, 21% of the patients developed seizures. A by-treatment difference in incident seizures was not detected. However, a difference between reduction in early seizures and late one was observed in the VPA group. VPA-treated patients exhibited improved neurological outcome as measured by NIHSS. Early prophylaxis with VPA in SICH patients did not prevent the occurrence of seizures post intracerebral hemorrhage, but was found to reduce early seizures. VPA-treated patients had improved NIHSS scores, suggesting that this treatment may confer some neuroprotective effect. Further studies with a larger number of patients and with other antiepileptic drugs are needed to properly clarify this finding.
Epilepsy research 05/2011; 95(3):227-31. · 2.48 Impact Factor
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ABSTRACT: Gain-of-function mutations in the SCN9A gene (encoding to NaV1.7 voltage-gated sodium channel) cause two rare paroxysmal pain disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEDP). These phenotypes are characterized by episodic extreme localized pain with cutaneous autonomic signs. So far, no other phenotypes have been associated with mutation in the SCN9A gene.
To investigate mutations in the SCN9A gene in patients with chronic non-paroxysmal neuropathic pain.
9 patients with chronic severe unexplained neuropathic pain.
Of the nine patients one had predicted pathologic mutations in the SCN9A gene. This patient had a heterozygous change of n.4648 T-C in exon 27 resulting in a substitution of W1550R, a highly conserved amino acid, predicting damage in the transmembrane S2 region, repeat IV. This mutation was not found in 50 controls.
SCN9A mutations cause pain syndromes other than IEM and PEPD. These mutations should be considered in patients with resistant unexplained chronic neuropathic pain.
Journal of the neurological sciences 02/2011; 301(1-2):90-2. · 2.32 Impact Factor
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ABSTRACT: Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown. The goal of this study was to unravel new clues on the biological pathways leading to HIBM by proteomic comparison. Muscle cultures and biopsies were analyzed by two dimensional gel electrophoresis (2-DE) and the same biopsy extracts by isobaric tag for relative and absolute quantitation (iTRAQ). Proteins that were differentially expressed in all HIBM specimens versus all controls in each analysis were identified by mass spectrometry. The muscle cultures 2-DE analysis yielded 41 such proteins, while the biopsies 2-DE analysis showed 26 differentially expressed proteins. Out of the 400 proteins identified in biopsies by iTRAQ, 41 showed altered expression. In spite of the different nature of specimens (muscle primary cultures versus muscle biopsies) and of the different methods applied (2D gels versus iTRAQ) the differentially expressed proteins identified in each of the three analyses where related mainly to the same pathways, ubiquitination, stress response and mitochondrial processes, but the most robust cluster (30%) was assigned to cytoskeleton and sarcomere organization. Taken together, these findings indicate a possible novel function of GNE in the muscle filamentous apparatus that could be involved in the pathogenesis of HIBM.
PLoS ONE 01/2011; 6(1):e16334. · 4.09 Impact Factor
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ABSTRACT: We report on acute painful neuropathy following reduction of high serum glucose levels in six diabetic patients, aged 27-52 (5 males). Initial glucose levels ranging between 270 and 600 mg/dL decreased to 60-160 mg/dL following insulin, pharmacologic or dietary treatment. Four patients had long-standing untreated diabetes (3-5 years). All six patients experienced severe excruciating neuropathic pain 2-4 weeks after initiation of treatment. Pain was generalized in all, starting in the feet in 4 cases. Pain intensity prompted the use of combination therapy with various anti-neuropathic pain agents. Symptoms gradually improved in all patients, allowing discontinuation of symptomatic therapy within 3-8 months. We conclude that acute painful neuropathy can complicate the correction of high glucose levels in diabetic patients. Therefore, careful correction of glucose levels should be considered in patients with long-standing uncontrolled diabetes.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 10/2008; 63(10):707-9. · 2.24 Impact Factor
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ABSTRACT: Catamenial epilepsy (CE) is characterized by epileptic seizures in the female occurring rhythmatically with the menstrual cycle. Hormonal mechanisms have been proposed as a cause of this epileptic form. Few reports about the efficacy of anti-epileptic drugs (AEDs) have been published. We studied prospectively women with CE who were treated with lamotrigine (LTG) for a period of 3 months in order to evaluate its efficacy, measuring the progesterone levels before and after LTG at the same time. LTG seemed to be efficacious in 66% of women, meaning the disappearance of seizures or reduction of 50% or more of the number of seizures. The reported side effects were few and mild, and the drug was well tolerated. Serum progesterone levels were found to rise during LTG treatment.
Seizure 05/2008; 17(6):531-4. · 1.80 Impact Factor
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ABSTRACT: To describe the clinical course and steroid responsiveness of a patient with subacute proximal symmetric weakness, very high serum creatine kinase activity, and myopathic pattern with fibrillations in the electromyogram, whose muscle biopsy showed necrotizing myopathy, with practically no inflammation.
Case report.
Academic research.
Diagnosis of muscular dystrophy was suggested; nevertheless, steroid treatment was initiated, and the patient recovered and gained normal strength. However, after a few years he stopped treatment, and all symptoms recurred. He developed severe proximal weakness of all limbs. Another biopsy showed similar findings, with no inflammation; still, he responded favorably to steroids and immunosuppressive medications. Currently on a low dose of prednisone and methotrexate, he has no neurological deficit.
The absence of inflammation in muscle biopsy may lead to misdiagnosis of muscular dystrophy; however, if the clinical impression is that of inflammatory myopathy, an immunomodulatory treatment should be initiated. During the past century, there has been much controversy about the diagnosis of polymyositis (PM). The debate is still ongoing. We present hereby a patient with typical course and clinical features of PM who underwent two muscle biopsies, several years apart, which showed necrotizing myopathy, practically without inflammation, leading to misdiagnosis of muscular dystrophy. This report brings up the dispute regarding the role of muscle biopsy in the diagnosis of PM.
Journal of clinical neuromuscular disease 04/2008; 9(3):341-4.
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ABSTRACT: To evaluate the loss of autonomic nerve fibers in patients with clinical pure small-fiber sensory neuropathy, we performed skin punch biopsies in 17 and 15 age- and sex-matched controls. Biopsies were taken 10 cm above the lateral malleolus, and 5-mum sections were stained with hematoxylin and eosin and the panaxonal marker protein gene product (PGP) 9.5. Positively stained fibers, represented as dots, innervating the erector pili muscles, arterioles, and sweat glands (SG) were counted. The ratios between the number of nerve fibers and nuclei of each structure were calculated. The autonomic innervation was significantly reduced in the patients' group compared with controls in all the examined autonomic-innervated structures: SG (0.27 +/- 0.15 vs. 0.66 +/- 0.37, p = 0.001), arterioles (0.38 +/- 0.32 vs. 0.86 +/- 0.45, p=0.002), and the erector pili muscle (0.58 +/- 0.27 vs. 1.23 +/- 0.87, p = 0.036). Our results suggest that autonomic involvement occurs in patients with sensory small-fiber neuropathy and that punch skin biopsy using thin sections is a simple and convenient method to detect these dermal autonomic small-fiber abnormalities.
Journal of the Peripheral Nervous System 07/2007; 12(2):98-101. · 2.80 Impact Factor
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ABSTRACT: Guillain-Barré syndrome, an autoimmune disorder of the peripheral nervous system, is divided into several subtypes according to clinico-pathologic findings and epidemiologic characteristics. A pure motor variant without involvement of the sensory nerves has been reported in rare cases. This report details the clinical, immunologic, and serial electrophysiologic findings of two patients with an acute, exclusively motor, axonal neuropathy.
Pediatric Neurology 05/2007; 36(4):271-3. · 1.52 Impact Factor
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ABSTRACT: The clinical significance of occipital intermittent rhythmic delta activity (OIRDA) on the electroencephalogram has not been fully established. Recent studies suggest that this pattern occurs almost exclusively in children and is probably of epileptic origin in most cases. We sought to characterize the electrographic features and clinical correlates of occipital intermittent rhythmic delta activity.
A review of 697 consecutive pediatric electroencephalograms detected occipital intermittent rhythmic delta activity in 24 studies. Mean patient age was 7.96 years.
Recent convulsions and absence seizures constituted the main indications for the study. Concomitant, independent epileptiform activity was noted in half of the cases. This activity was focal in all but one case. Conversely, in most cases of absence seizures, epileptiform activity intermixed with occipital intermittent rhythmic delta activity. Furthermore, the frequency of the occipital rhythmic discharges in studies of children with absences was generally faster (3-4 Hz) than in localization-related epilepsy (2-3 Hz). Most patients were awake when occipital intermittent rhythmic delta activity occurred. Chronic encephalopathy was seen in one child only. Analysis of neuroimaging studies in eight cases revealed no structural pathology associated with occipital intermittent rhythmic delta activity.
Occipital intermittent rhythmic delta activity is probably an epileptiform pattern, although it is noted occasionally in encephalopathic children. Its electrographic characteristics appear to differ between localization-related epilepsy and primary generalized epilepsy, particularly absence seizures.
Epilepsia 03/2007; 48(2):330-4. · 3.96 Impact Factor
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ABSTRACT: Heroin-related peripheral nervous injury has scarcely been reported, mostly as compressive neuropathy. Rarely, other types of peripheral nervous system (PNS) injury have been recognized, such as plexopathy, polyradiculopathy, mononeuropathy, and rhabdomyolysis. These complications are usually not related to local trauma, but the nature of nerve injury remains unknown. Immunologic mechanisms have been proposed, although generally there is no laboratory evidence of inflammation and usually there is no improvement following steroid therapy. We describe six patients who developed acute PNS injury following intravenous or intranasal heroin self-administration with no evidence of compression injury or inflammation. Four patients had plexopathy (two lumbosacral and two brachial), and two had symmetric distal axonal sensorimotor neuropathy affecting the lower extremities. Of the six patients, five had concomitant rhabdomyolysis (creatine kinase, CK: 5,000-100,000 U/l) and one patient with brachial plexopathy had normal CK levels. The neurological deficit was noticed 3-36 h after heroin administration. Electromyography in five patients was consistent with sensorimotor axonal loss either confined to the affected plexus or with a diffuse distribution in the legs in the two patients with neuropathy. We propose that a toxic mechanism may be responsible for non-compression cases of acute neuropathy following heroin abuse.
Journal of the Peripheral Nervous System 01/2007; 11(4):304-9. · 2.80 Impact Factor
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ABSTRACT: We describe a novel form of myopathy in a mother and her two daughters from an inbred Samaritan family. The patients displayed severe neonatal hypotonia, lethargy and dysmorphic features. Motor milestones were delayed; however, the hypotonia and muscle weakness gradually improved during the first 2 years of life and independent walking was achieved by 18 months. The mother at the age of 23 years shows myopathic facies and minimal proximal weakness. Her intelligence is normal. Her muscle biopsy revealed central nuclei and disruption of the intermyofibrillary network with moth eaten and spiral fibers. Mutations in SMN, MTM1 and the myotonic dystrophy genes were excluded. We suggest this is a new benign form of congenital myopathy. Inheritance is probably autosomal recessive.
European Journal of Paediatric Neurology 08/2006; 10(4):182-5. · 2.12 Impact Factor
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ABSTRACT: Small-fiber neuropathy is often idiopathic and commonly follows a chronic course. Treatment is often effective in treating the core symptom of pain, but it has no effect on the pathologic process. We describe four patients with acute small-fiber neuropathy who responded dramatically to steroid therapy. All patients had acute onset neuropathic pain, normal nerve conduction studies, and evidence of small-fiber dysfunction in quantitative sensory testing and skin biopsy. Symptoms were distal and symmetrical in three patients and generalized in one patient. In two cases, the neuropathy presented as an erythromelalgia-like syndrome. Marked clinical improvement occurred 1-2 weeks after oral prednisone therapy was initiated. Three patients remained symptom free, and one patient experienced recurrence of neuropathy after prednisone was tapered.
Journal of the Peripheral Nervous System 04/2006; 11(1):47-52. · 2.80 Impact Factor
