The present study describes a case of subacute thyroiditis characterized by involvement of ocular... more The present study describes a case of subacute thyroiditis characterized by involvement of ocular motility that appeared many months before bioumoral findings of the disease. The authors believe that when the etiological diagnosis of an ophthalmoparesis, especially when isolated, is uncertain, one must carefully evaluate the function of the thyroid and levels of the specific antibodies, in order to start the appropriate treatment.
It is well established that cerebral blood flow (CBF) is low in patients with high hematocrit and... more It is well established that cerebral blood flow (CBF) is low in patients with high hematocrit and is high in anemic patients. An inverse relationship between CBF and hematocrit has been found. Furthermore, if hematocrit is reduced, CBF increases. There is some debate as to whether these observations are due to viscosity or to oxygen carrying capacity of the blood. In order to further elucidate this problem, CBF, blood viscosity and hematocrit were measured in 4 patients with paraproteinemias before and after paraproteins had been removed by plasmapheresis without changes in hematocrit. After plasmapheresis, blood viscosity significantly decreases and CBF increases by a mean of 24.4 ml/100 g/min. Mean arterial blood pressure and hematocrit were not influenced by plasmapheresis. These results indicate that blood viscosity is an important factor in determining CBF. This does not exclude the role of oxygen transport as an associated factor, but it is evident that oxygen transport and blood viscosity are independent variables in the control of CBF.
Juergens SM,Kurland LT,Okazaki H,et al.ALS in Rochester,Minnesota,1925-1977.Neurology .1980;30:46... more Juergens SM,Kurland LT,Okazaki H,et al.ALS in Rochester,Minnesota,1925-1977.Neurology .1980;30:463-470. ... Swash M.ALS and motor neuron disorders today and tomorrow.Amyotroph Lateral Scler Other Motor Neuron Disord.2001 ;2:171-172.
Botulism is an acute neurologic disorder that causes potentially life-threatening neuroparalysis ... more Botulism is an acute neurologic disorder that causes potentially life-threatening neuroparalysis resulting in weakness and laccid paralysis. In addition to the autonomic nervous system, botulism may involve only the cranial nerves, thus posing special diagnostic problems. Almost all cranial nerves are not easily testable. The anatomical and physiological characteristics of the spinal accessory nerve makes it very suitable to electrophysiological diagnosis of cranial botulism. Although with a working diagnosis of botulism, treatment should not be delayed pending neurophysiological tests, electrophysiological studies including spinal accessory nerve may assist in diagnostic differentiation between cranial botulism and other disorders with similar clinical presentations such as Miller-Fisher and myasthenia gravis.
Midshaft clavicular fractures are usually treated non-operatively with sling or figure-of-eight b... more Midshaft clavicular fractures are usually treated non-operatively with sling or figure-of-eight bandage. Most studies report few neurogenic complications not distinguishing between fracture related plexopathies and device related neuropathies. A 68 years old man, wearing figure-of-eight bandage since five weeks because of displaced right midshaft clavicular fracture, underwent to our observation complaining numbness and weakness in right forearm/hand. Neurophysiological examination showed motor conduction blocks (CB), without evident demyelination, between Erb-point and axilla in radial (−81%), median (−62%) and ulnar (−86%) nerves. Distal CMAPs and SAPs were reduced. Three weeks after bandage removal median and radial CB improved (
Introduction Chronic ataxic neuropathy with anti-disialosyl IgM antibodies (CANDA) is a rare diso... more Introduction Chronic ataxic neuropathy with anti-disialosyl IgM antibodies (CANDA) is a rare disorder for which the pathological, neurophysiological, and therapeutic evidence remains anecdotal and controversial. Methods This report on CANDA focuses on the neurophysiological patterns and treatment responses shared by two cases. One patient underwent nerve ultrasound follow-up. A comprehensive review of the literature highlighted the diverse experiences with different treatment options. Results Response to different therapies was similar in both patients: intravenous immunoglobulins achieved a favorable response albeit with significant wearing-off fluctuations; treatment with subcutaneous immunoglobulins (SCIg) was an effective alternative leading to a clinical response for at least 2 years. Rituximab, which was trialed in both patients, was not continued long enough to determine its efficacy in modifying the disease course and/or modulating responsiveness to immunoglobulins. Steroids caused clinical worsening in both patients. Conclusions Immunoglobulin therapy appeared as the most effective in the treatment of these two patients. SCIg provided an effective treatment option for the long-term management of CANDA.
The usual semiotic sign of motor neuron damage is hypotrophy of target muscle. However, in rare c... more The usual semiotic sign of motor neuron damage is hypotrophy of target muscle. However, in rare cases, a motor neuron damage results in hypertrophy: this is principally due to a chronic triggering of spontaneous activity in affected motor units, with continuous or subcontinuous activation of target muscular fibers. Muscular neurogenic hypertrophy was reported during radiculopathy, mononeuropathy, focal myelopathy, tethered cord syndrome, chronic inflammatory demyelinating polyneuropathy. In this report we present classification of muscular neurogenic hypertrophy, based on topography, etiology and type of spontaneous activity possibly observed. We present also two cases: the first one due to spondyloarthrosis associated with T11-T12 discopathy, the second one due to ischiatic nerve neuropathy related to proximal femur fracture.
s of the 13th European Congress of Clinical Neurophysiology / Clinical Neurophysiology 119 (2008)... more s of the 13th European Congress of Clinical Neurophysiology / Clinical Neurophysiology 119 (2008), S1–S131 S15 TUO09 The acute block of the medial forebrain bundle causes the emerging of pathological low frequency oscillation within the basal ganglia: an in vivo study in normal rats Salvatore Galati 1, Teresa Procopio 1 , Francesco Marzetti 1 , Paolo Stanzione 2 , Alessandro Stefani 1 1Dipartment of Neuroscience, University of Rome “Tor Vergata”; 2IRCCS, Fondazione Santa Lucia, Rome Experimental evidences in Parkinson’s disease (PD) patients have shown abnormally synchronized oscillatory activity in several structures of the basal ganglia (BG)–cortical loop. This excessive synchronization correlates with motor deficit, and is suppressed by dopaminergic therapies or by deep-brain stimulation (DBS).In normal rats under urethane anaesthesia Subthalamic nucleus (STN) firing discharge correlates with slow wave cortex activity (SWA) around 1 Hz. In animals rendered parkinsonian by 6-OHDA intoxication, other BG structures, such as globus pallidus (GP) and substantia nigra reticulata (SNr), become correlated with the cortex. In order to understand the origin of the coherence between BG and cortex at low frequency, we simultaneously performed the electrocorticogram (ECoG), and single unit recordings from GP, STN and SNr before and after the acute tetrodotoxin (TTX)-induced block of the medial forebrain bundle (MFB). We found that the acute block of substantia nigra compacta (SNc) signalling causes a fast (3-6 min) and a clear cut increase of coherence between cortex/GP and cortex/SNr paralleled by a significant increase of firing rate in STN and in GP but not in SNr. Following TTX block, STN inactivation by local muscimol injection reverses the coherence between cortex and GP/SNr. Our data demonstrate that: i) it is possible to generate low frequency oscillation (LFO) in a normal BG network by acute block of the SNc signalling mimicking parkinsonian state; ii) in this condition the cortex drives the GP/SNr activity through the STN; iii) SNc exerts a direct or indirect inhibitory tone on GP. In conclusion we hypothesize that GP represents the core relay structures of the BG physiologically floating between the inhibitory control of striatum and SNc and excitatory inputs from STN. The impairment of this control lets prevail cortical influence over BG in PD. This could lead to a failure of the main BG function i.e. the motor program selection. TUO10 Usefulness of the Bereitschaft potential in suspected spinal myoclonus Ravi Knight, Daniela Murgia, Carla Cordivari National Hospital for Neurology and Neurosurgery Spinal myoclonus is caused by segmental dysfunction of the spinal motor inhibitory pathways, and is frequently associated with structural cord lesions. However abnormal paroxysmal movements in a segmental distribution may also be caused by voluntary activation. Purpose: To study the effect of cortical activation of paroxysmal movements in patients with suspected spinal myoclonus, in a tertiary neurological referral centre. Method: Observational neurophysiological assessment of patients with suspected spinal myoclonus, in whom detailed neuraxial imaging and antineuronal antibodies were negative. 20 patients (mean age 52y, males11, females 9) were recruited, and detailed neurophsyioloical assessment with EEG-EMG backaveraging was performed. Results: EEG-EMG backaveraging cortical pre-potentials associated with the abnormal movements in all of these. Intramuscular botulinum toxin injection very rapidly abolished these movements in some cases. Conclusion: Whilst segmental spinal cord pathology has to be excluded in segmental movement disorders, neurophysiological evaluation with EEGEMG back-averaging will help to rule out organic pathology in some cases. TUO11 Changes in the activity of the basal ganglia during movement observation Manuel Alegre 1, Miguel Valencia 1 , Maria C. Rodríguez-Oroz 1 , Jorge Guridi 1, Jorge Iriarte 1, José A. Obeso 1, Julio Artieda 1 1CIMA, Universidad de Navarra; 2Clinical Neurophysiology Section, Neurosurgery Section and Department of Neurology, Clínica Universitaria
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic var... more Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–phenotype correlation has been extensively discussed, and caution is recommended when interpreting the clinical significance of any mutation in a single patient. As there is no evidence that environmental factors can modulate the phenotype, the observed clinical variability in PD suggests that genetic variants other than pathogenic GAA mutations influence the mechanisms of muscle damage/repair and the overall clinical picture. Genes encoding proteins involved in glycogen synthesis and catabolism may represent excellent candidates as phenotypic modifiers of PD. The genes analyzed for glycogen synthesis included UGP2, glycogenin (GYG1-muscle, GYG2, and other tissues), glycogen synthase (GYS1-muscle and GYS2-liver), GBE1, EPM2A, NHLRC1, GSK3A...
The present study describes a case of subacute thyroiditis characterized by involvement of ocular... more The present study describes a case of subacute thyroiditis characterized by involvement of ocular motility that appeared many months before bioumoral findings of the disease. The authors believe that when the etiological diagnosis of an ophthalmoparesis, especially when isolated, is uncertain, one must carefully evaluate the function of the thyroid and levels of the specific antibodies, in order to start the appropriate treatment.
It is well established that cerebral blood flow (CBF) is low in patients with high hematocrit and... more It is well established that cerebral blood flow (CBF) is low in patients with high hematocrit and is high in anemic patients. An inverse relationship between CBF and hematocrit has been found. Furthermore, if hematocrit is reduced, CBF increases. There is some debate as to whether these observations are due to viscosity or to oxygen carrying capacity of the blood. In order to further elucidate this problem, CBF, blood viscosity and hematocrit were measured in 4 patients with paraproteinemias before and after paraproteins had been removed by plasmapheresis without changes in hematocrit. After plasmapheresis, blood viscosity significantly decreases and CBF increases by a mean of 24.4 ml/100 g/min. Mean arterial blood pressure and hematocrit were not influenced by plasmapheresis. These results indicate that blood viscosity is an important factor in determining CBF. This does not exclude the role of oxygen transport as an associated factor, but it is evident that oxygen transport and blood viscosity are independent variables in the control of CBF.
Juergens SM,Kurland LT,Okazaki H,et al.ALS in Rochester,Minnesota,1925-1977.Neurology .1980;30:46... more Juergens SM,Kurland LT,Okazaki H,et al.ALS in Rochester,Minnesota,1925-1977.Neurology .1980;30:463-470. ... Swash M.ALS and motor neuron disorders today and tomorrow.Amyotroph Lateral Scler Other Motor Neuron Disord.2001 ;2:171-172.
Botulism is an acute neurologic disorder that causes potentially life-threatening neuroparalysis ... more Botulism is an acute neurologic disorder that causes potentially life-threatening neuroparalysis resulting in weakness and laccid paralysis. In addition to the autonomic nervous system, botulism may involve only the cranial nerves, thus posing special diagnostic problems. Almost all cranial nerves are not easily testable. The anatomical and physiological characteristics of the spinal accessory nerve makes it very suitable to electrophysiological diagnosis of cranial botulism. Although with a working diagnosis of botulism, treatment should not be delayed pending neurophysiological tests, electrophysiological studies including spinal accessory nerve may assist in diagnostic differentiation between cranial botulism and other disorders with similar clinical presentations such as Miller-Fisher and myasthenia gravis.
Midshaft clavicular fractures are usually treated non-operatively with sling or figure-of-eight b... more Midshaft clavicular fractures are usually treated non-operatively with sling or figure-of-eight bandage. Most studies report few neurogenic complications not distinguishing between fracture related plexopathies and device related neuropathies. A 68 years old man, wearing figure-of-eight bandage since five weeks because of displaced right midshaft clavicular fracture, underwent to our observation complaining numbness and weakness in right forearm/hand. Neurophysiological examination showed motor conduction blocks (CB), without evident demyelination, between Erb-point and axilla in radial (−81%), median (−62%) and ulnar (−86%) nerves. Distal CMAPs and SAPs were reduced. Three weeks after bandage removal median and radial CB improved (
Introduction Chronic ataxic neuropathy with anti-disialosyl IgM antibodies (CANDA) is a rare diso... more Introduction Chronic ataxic neuropathy with anti-disialosyl IgM antibodies (CANDA) is a rare disorder for which the pathological, neurophysiological, and therapeutic evidence remains anecdotal and controversial. Methods This report on CANDA focuses on the neurophysiological patterns and treatment responses shared by two cases. One patient underwent nerve ultrasound follow-up. A comprehensive review of the literature highlighted the diverse experiences with different treatment options. Results Response to different therapies was similar in both patients: intravenous immunoglobulins achieved a favorable response albeit with significant wearing-off fluctuations; treatment with subcutaneous immunoglobulins (SCIg) was an effective alternative leading to a clinical response for at least 2 years. Rituximab, which was trialed in both patients, was not continued long enough to determine its efficacy in modifying the disease course and/or modulating responsiveness to immunoglobulins. Steroids caused clinical worsening in both patients. Conclusions Immunoglobulin therapy appeared as the most effective in the treatment of these two patients. SCIg provided an effective treatment option for the long-term management of CANDA.
The usual semiotic sign of motor neuron damage is hypotrophy of target muscle. However, in rare c... more The usual semiotic sign of motor neuron damage is hypotrophy of target muscle. However, in rare cases, a motor neuron damage results in hypertrophy: this is principally due to a chronic triggering of spontaneous activity in affected motor units, with continuous or subcontinuous activation of target muscular fibers. Muscular neurogenic hypertrophy was reported during radiculopathy, mononeuropathy, focal myelopathy, tethered cord syndrome, chronic inflammatory demyelinating polyneuropathy. In this report we present classification of muscular neurogenic hypertrophy, based on topography, etiology and type of spontaneous activity possibly observed. We present also two cases: the first one due to spondyloarthrosis associated with T11-T12 discopathy, the second one due to ischiatic nerve neuropathy related to proximal femur fracture.
s of the 13th European Congress of Clinical Neurophysiology / Clinical Neurophysiology 119 (2008)... more s of the 13th European Congress of Clinical Neurophysiology / Clinical Neurophysiology 119 (2008), S1–S131 S15 TUO09 The acute block of the medial forebrain bundle causes the emerging of pathological low frequency oscillation within the basal ganglia: an in vivo study in normal rats Salvatore Galati 1, Teresa Procopio 1 , Francesco Marzetti 1 , Paolo Stanzione 2 , Alessandro Stefani 1 1Dipartment of Neuroscience, University of Rome “Tor Vergata”; 2IRCCS, Fondazione Santa Lucia, Rome Experimental evidences in Parkinson’s disease (PD) patients have shown abnormally synchronized oscillatory activity in several structures of the basal ganglia (BG)–cortical loop. This excessive synchronization correlates with motor deficit, and is suppressed by dopaminergic therapies or by deep-brain stimulation (DBS).In normal rats under urethane anaesthesia Subthalamic nucleus (STN) firing discharge correlates with slow wave cortex activity (SWA) around 1 Hz. In animals rendered parkinsonian by 6-OHDA intoxication, other BG structures, such as globus pallidus (GP) and substantia nigra reticulata (SNr), become correlated with the cortex. In order to understand the origin of the coherence between BG and cortex at low frequency, we simultaneously performed the electrocorticogram (ECoG), and single unit recordings from GP, STN and SNr before and after the acute tetrodotoxin (TTX)-induced block of the medial forebrain bundle (MFB). We found that the acute block of substantia nigra compacta (SNc) signalling causes a fast (3-6 min) and a clear cut increase of coherence between cortex/GP and cortex/SNr paralleled by a significant increase of firing rate in STN and in GP but not in SNr. Following TTX block, STN inactivation by local muscimol injection reverses the coherence between cortex and GP/SNr. Our data demonstrate that: i) it is possible to generate low frequency oscillation (LFO) in a normal BG network by acute block of the SNc signalling mimicking parkinsonian state; ii) in this condition the cortex drives the GP/SNr activity through the STN; iii) SNc exerts a direct or indirect inhibitory tone on GP. In conclusion we hypothesize that GP represents the core relay structures of the BG physiologically floating between the inhibitory control of striatum and SNc and excitatory inputs from STN. The impairment of this control lets prevail cortical influence over BG in PD. This could lead to a failure of the main BG function i.e. the motor program selection. TUO10 Usefulness of the Bereitschaft potential in suspected spinal myoclonus Ravi Knight, Daniela Murgia, Carla Cordivari National Hospital for Neurology and Neurosurgery Spinal myoclonus is caused by segmental dysfunction of the spinal motor inhibitory pathways, and is frequently associated with structural cord lesions. However abnormal paroxysmal movements in a segmental distribution may also be caused by voluntary activation. Purpose: To study the effect of cortical activation of paroxysmal movements in patients with suspected spinal myoclonus, in a tertiary neurological referral centre. Method: Observational neurophysiological assessment of patients with suspected spinal myoclonus, in whom detailed neuraxial imaging and antineuronal antibodies were negative. 20 patients (mean age 52y, males11, females 9) were recruited, and detailed neurophsyioloical assessment with EEG-EMG backaveraging was performed. Results: EEG-EMG backaveraging cortical pre-potentials associated with the abnormal movements in all of these. Intramuscular botulinum toxin injection very rapidly abolished these movements in some cases. Conclusion: Whilst segmental spinal cord pathology has to be excluded in segmental movement disorders, neurophysiological evaluation with EEGEMG back-averaging will help to rule out organic pathology in some cases. TUO11 Changes in the activity of the basal ganglia during movement observation Manuel Alegre 1, Miguel Valencia 1 , Maria C. Rodríguez-Oroz 1 , Jorge Guridi 1, Jorge Iriarte 1, José A. Obeso 1, Julio Artieda 1 1CIMA, Universidad de Navarra; 2Clinical Neurophysiology Section, Neurosurgery Section and Department of Neurology, Clínica Universitaria
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic var... more Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–phenotype correlation has been extensively discussed, and caution is recommended when interpreting the clinical significance of any mutation in a single patient. As there is no evidence that environmental factors can modulate the phenotype, the observed clinical variability in PD suggests that genetic variants other than pathogenic GAA mutations influence the mechanisms of muscle damage/repair and the overall clinical picture. Genes encoding proteins involved in glycogen synthesis and catabolism may represent excellent candidates as phenotypic modifiers of PD. The genes analyzed for glycogen synthesis included UGP2, glycogenin (GYG1-muscle, GYG2, and other tissues), glycogen synthase (GYS1-muscle and GYS2-liver), GBE1, EPM2A, NHLRC1, GSK3A...
Uploads
Papers by Fabio Giannini