Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by a CAG repeat ... more Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by a CAG repeat expansion within the androgen receptor (AR) gene. Toxic nuclear accumulation of mutant AR has been observed in tissues other than nervous system including cardiac muscle. Moreover, CAG polymorphism length within AR has been associated with an increased risk of heart disease. To test the hypothesis of the presence of cardiomyopathy in SBMA, a full cardiac protocol was applied to 25 SBMA patients. Patients' age ranged between 32 and 75 years. Cardiologic examination, 12-lead ECG, and echocardiography showed no abnormalities other than those consistent with hypertensive heart disease. One patient showed frequent supraventricular premature beats in absence of other significant arrhythmias at the 24-h ECG Holter. Our findings do not support the hypothesis of a primary cardiomyopathy in SBMA.
Seric IgM autoreactivity in 100 multiple sclerosis (MS) and 106 control (70 of whom had other neu... more Seric IgM autoreactivity in 100 multiple sclerosis (MS) and 106 control (70 of whom had other neurological diseases) patients was assessed either by immunohistochemistry on normal human CNS tissue or to GD2, GD1a, GD3 by ELISA and thin layer chromatography (TLC) techniques. By double immunohistochemistry, we found that 44% of the total MS population showed seric IgM reactivity to oligodendrocytes and myelin, this finding being particularly frequent in patients with secondary progressive MS. In the non-MS cohort, positive signals were seen only in one patient. In all cases, extraction of lipids from CNS sections abolished the immunoreactivity. Among the gangliosides investigated by ELISA, anti-GD2-like IgM autoantibodies were detected in the serum of 30% of MS patients, a subgroup of whom (below 10%) reacted also with GD1a and/or GD3. More than 85% of MS cases with anti-GD2-like IgM immunoreactivity by ELISA showed also IgM anti-oligodendrocyte/myelin staining by immunohistochemistry...
A typical pathophysiological abnormality in dystonia is cocontraction of antagonist muscles, with... more A typical pathophysiological abnormality in dystonia is cocontraction of antagonist muscles, with impaired reciprocal inhibitory mechanisms in the spinal cord. Recent experimental data have shown that inhibitory interactions between antagonist muscles have also a parallel control at the level of the sensorimotor cortex. The aim of this work was to study heteronymous effects of a median nerve stimulus on the corticospinal projections to forearm muscles in dystonia. We used the technique of antagonist cortical inhibition, which assesses the conditioning effect of median nerve afferent input on motor evoked potentials (MEPs) elicited by transcranial magnetic stimulation (TMS) in ipsilateral forearm extensor muscles at rest. Nine healthy subjects and 10 patients with torsion dystonia participated in the study. MEPs and somatosensory evoked potentials were normal in patients. In healthy subjects, median nerve stimulation at 15‐ to 18‐msec intervals inhibited the test MEPs in forearm exte...
Our purpose was to test the effect of botulinum toxin injections on hypertonic pelvic floor muscl... more Our purpose was to test the effect of botulinum toxin injections on hypertonic pelvic floor muscles of patients suffering from genital pain syndromes. We report two cases of women complaining of a genital pain syndrome resistant to pharmacological therapies and rehabilitation exercises associated with a documented involuntary tonic contraction of the levator ani muscle as a defense reaction triggered by vulvar pain. We performed botulinum toxin injections into the levator ani with the intent to relieve pelvic muscular spasms. Within a few days after the injections both the patients reported a complete resolution of the painful symptomatology, lasting for several months. Our experience suggests that botulinum injections are indicated in patients with genital pain syndrome with documented pelvic muscle hyperactivity, whose symptoms arise not only from genital inflammation and lesions, but also, and sometimes chiefly, from levator ani myalgia.
Weight and height gain after intrathecal baclofen pump implantation in children with spastic tetr... more Weight and height gain after intrathecal baclofen pump implantation in children with spastic tetraparesis' SIR-Chronic intrathecal baclofen (ITB) infusion is widely used to treat severe spasticity of cerebral and spinal origin in children. ITB therapy effectively improves spasticity, decreases muscle tone, increases the range of hamstring motion, and prevents musculoskeletal contractures both in spastic paraparesis and tetraparesis, thus improving hygiene and facilitating caregivers' duties. 1, 2 Children with spasticity are often below the normal centile for height and weight when compared with healthy children without disability of the same age and sex. Nutritional problems in patients with moderate to severe cerebral palsy (CP) seem to arise mainly from mild or severe feeding dysfunction. 3, 4 Little is known about the role in malnutrition of other factors, such as spasticity. In 2001 a report 5 suggested that by improving spasticity ITB therapy may also reduce caloric expenditure, thus normalizing children's growth. We retrospectively collected weight and height data for three children who attended our service and underwent implantation of an ITB pump (Syncromed Model EL, 8627-10, Medtronic Inc, Minneapolis, USA). All children had spastic quadriplegia: patient 1, following post-anoxic damage after a cardiocirculatory arrest at age of 2 years and 6 months; patient 2, as a result of having CP; and patient 3, due to having chromosomal encephalopathy (deletion 22q11.2). Children's age, sex, weight, height, and spasticity outcome measures are listed in Table I. The following scales were performed in order to assess spasticity: modified Ashworth scale; Penn Spasm Frequency Score; and Deep Tendon Reflexes Scale (see Table I legend for relative scores). Firstly, these three patients show that ITB therapy markedly improves spasticity, thus helping to improve childcare and, thereby, inducing secondary benefits in general terms. Secondly, they show that ITB therapy achieves excellent benefits in terms of growth, with a conspicuous gain in weight and height.
This is a PDF file of an article that has undergone enhancements after acceptance, such as the ad... more This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
The aim of this short communication is to discuss the mechanism, modality and treatment of ifosfa... more The aim of this short communication is to discuss the mechanism, modality and treatment of ifosfamide encephalopathy. We present the case of a 52-year-old woman treated with this alkylating agent who developed severe neurotoxicity. It was resolved with administration of Methylene blue, abundant intravenous hydration and interruption of ifosfamide.
Background Law 219/2017 was approved in Italy in December 2017, after a years-long debate on the ... more Background Law 219/2017 was approved in Italy in December 2017, after a years-long debate on the autonomy of healthcare choices. This Law, for the first time in Italian legislation, guarantees the patient’s right to request for withdrawal of life-sustaining treatments, including mechanical ventilation (MV). Objective To investigate the current status of MV withdrawal in amyotrophic lateral sclerosis (ALS) patients in Italy and to assess the impact of Law 219/2017 on this practice. Methods We conducted a Web-based survey, addressed to Italian neurologists with expertise in ALS care, and members of the Motor Neuron Disease Study Group of the Italian Society of Neurology. Results Out of 40 ALS Italian centers, 34 (85.0%) responded to the survey. Law 219/2017 was followed by an increasing trend in MV withdrawals, and a significant increase of neurologists involved in this procedure (p 0.004). However, variations across Italian ALS centers were observed, regarding the inconsistent involv...
Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active. Methods: A total of 14 healthy volunteers were enrolled (3 females and 11 males, mean age 28.5 years). Both upper limbs by were used for examination. The stimulation cite of FDP was at elbow and the recording cite of FDP was 8 cm distal from elbow and just above the contracted FDP muscle. We evaluated the baseline-to-peak amplitude of CMAPs of FDPs. The CMAPs of FDPs by median nerve stimulation (FDPm) and ulnar nerve stimulation (FDPu), and other routine CMAPs were recorded. Additionally, we evaluated the summed amplitude of FDPm and FDPu (FDPsum). We analyzed the relationships between FDPm and FDPu amplitude and the others; grip strength, other routine CMAP amplitude and so forth. Results: The CMAPs of FDPs were recorded from 28 arms from 14 healthy individuals. All individuals completed the examinations. The test-retest analysis of CMAPs of FDPs showed that the grip power was highly correlated with FDPm, FDPu, FDPsum, lateral pinch strength and chuck pinch strength, whereas ADM and APB were not correlated with FDPm, FDPu, FDPsum, grip power, lateral pinch strength and chuck pinch strength. Age was not related with any CMAPs amplitude. The FDPm, FDPu and FDPsum might be novel and useful measurement of muscle strength. Conclusion: Because evaluating the muscle strength of FDP is difficult, electrophysiological evaluation of FDP would be a good indicator of muscle strength. Although the nerve innervation of FDPs were independent by individuals, that the FDP CMAPs were correlated with grip power and other pinch strengths could be a powerful tool of novel muscle measurement.
Aims. To evaluate the sensitivity (SE), specificity (SP), positive predictive value (PPV), and ne... more Aims. To evaluate the sensitivity (SE), specificity (SP), positive predictive value (PPV), and negative predictive value (NPV) of neurophysiological tests in patients with neurological diseases and pelvic floor symptoms. Methods. Sixty-four of 111 outpatients who came to our attention for pelvic floor symptoms presented with neurological disorders (32 lower motor neuron disease [LMND], 30 upper motor neuron disease [UMND], 2 with mixed clinical picture). Forty-seven patients with chronic pelvic pain served as controls. All underwent neurological/perineal clinical evaluation and a battery of neurophysiological tests: concentric-needle electromyography (CNEMG) of external anal sphincter (EAS) muscle, pudendal evoked potentials (pPEPs), sacral reflexes, and perineal sympathetic skin response (pSSR). Upper and lower limits of normal values were collected and compared to patients' data. SE, SP, PPV, and NPV were calculated for each neurophysiological exam. Results. CNEMG of the EAS s...
Background and purposeIn its initial stages, Guillain–Barré syndrome (GBS) is difficult to identi... more Background and purposeIn its initial stages, Guillain–Barré syndrome (GBS) is difficult to identify, because diagnostic criteria may not always be fulfilled. With this retrospective study, we wanted to identify the most common electrophysiological abnormalities seen on neurophysiological examination of GBS patients and its variants in the early phases.MethodsWe reviewed the clinical records of patients admitted to our Neurology Unit with a confirmed diagnosis of GBS. The study sample was divided in two subgroups according to whether the neurophysiological examination was performed: within 7 days (very early group) or within 7–15 days (early group). H reflex, F waves, and motor and sensory conduction parameters were judged abnormal if they were outside the normal range for at least two nerves. We evaluated neurophysiological findings in Miller–Fisher syndrome (MFS) separately.ResultsThe study sample comprised 36 patients. In GBS, the most frequent abnormal neurophysiological paramete...
The aim of this short communication is to discuss the mechanism, modality and treatment of ifosfa... more The aim of this short communication is to discuss the mechanism, modality and treatment of ifosfamide encephalopathy. We present the case of a 52-year-old woman treated with this alkylating agent who developed severe neurotoxicity. It was resolved with administration of Methylene blue, abundant intravenous hydration and interruption of ifosfamide.
Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by a CAG repeat ... more Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by a CAG repeat expansion within the androgen receptor (AR) gene. Toxic nuclear accumulation of mutant AR has been observed in tissues other than nervous system including cardiac muscle. Moreover, CAG polymorphism length within AR has been associated with an increased risk of heart disease. To test the hypothesis of the presence of cardiomyopathy in SBMA, a full cardiac protocol was applied to 25 SBMA patients. Patients' age ranged between 32 and 75 years. Cardiologic examination, 12-lead ECG, and echocardiography showed no abnormalities other than those consistent with hypertensive heart disease. One patient showed frequent supraventricular premature beats in absence of other significant arrhythmias at the 24-h ECG Holter. Our findings do not support the hypothesis of a primary cardiomyopathy in SBMA.
Seric IgM autoreactivity in 100 multiple sclerosis (MS) and 106 control (70 of whom had other neu... more Seric IgM autoreactivity in 100 multiple sclerosis (MS) and 106 control (70 of whom had other neurological diseases) patients was assessed either by immunohistochemistry on normal human CNS tissue or to GD2, GD1a, GD3 by ELISA and thin layer chromatography (TLC) techniques. By double immunohistochemistry, we found that 44% of the total MS population showed seric IgM reactivity to oligodendrocytes and myelin, this finding being particularly frequent in patients with secondary progressive MS. In the non-MS cohort, positive signals were seen only in one patient. In all cases, extraction of lipids from CNS sections abolished the immunoreactivity. Among the gangliosides investigated by ELISA, anti-GD2-like IgM autoantibodies were detected in the serum of 30% of MS patients, a subgroup of whom (below 10%) reacted also with GD1a and/or GD3. More than 85% of MS cases with anti-GD2-like IgM immunoreactivity by ELISA showed also IgM anti-oligodendrocyte/myelin staining by immunohistochemistry...
A typical pathophysiological abnormality in dystonia is cocontraction of antagonist muscles, with... more A typical pathophysiological abnormality in dystonia is cocontraction of antagonist muscles, with impaired reciprocal inhibitory mechanisms in the spinal cord. Recent experimental data have shown that inhibitory interactions between antagonist muscles have also a parallel control at the level of the sensorimotor cortex. The aim of this work was to study heteronymous effects of a median nerve stimulus on the corticospinal projections to forearm muscles in dystonia. We used the technique of antagonist cortical inhibition, which assesses the conditioning effect of median nerve afferent input on motor evoked potentials (MEPs) elicited by transcranial magnetic stimulation (TMS) in ipsilateral forearm extensor muscles at rest. Nine healthy subjects and 10 patients with torsion dystonia participated in the study. MEPs and somatosensory evoked potentials were normal in patients. In healthy subjects, median nerve stimulation at 15‐ to 18‐msec intervals inhibited the test MEPs in forearm exte...
Our purpose was to test the effect of botulinum toxin injections on hypertonic pelvic floor muscl... more Our purpose was to test the effect of botulinum toxin injections on hypertonic pelvic floor muscles of patients suffering from genital pain syndromes. We report two cases of women complaining of a genital pain syndrome resistant to pharmacological therapies and rehabilitation exercises associated with a documented involuntary tonic contraction of the levator ani muscle as a defense reaction triggered by vulvar pain. We performed botulinum toxin injections into the levator ani with the intent to relieve pelvic muscular spasms. Within a few days after the injections both the patients reported a complete resolution of the painful symptomatology, lasting for several months. Our experience suggests that botulinum injections are indicated in patients with genital pain syndrome with documented pelvic muscle hyperactivity, whose symptoms arise not only from genital inflammation and lesions, but also, and sometimes chiefly, from levator ani myalgia.
Weight and height gain after intrathecal baclofen pump implantation in children with spastic tetr... more Weight and height gain after intrathecal baclofen pump implantation in children with spastic tetraparesis' SIR-Chronic intrathecal baclofen (ITB) infusion is widely used to treat severe spasticity of cerebral and spinal origin in children. ITB therapy effectively improves spasticity, decreases muscle tone, increases the range of hamstring motion, and prevents musculoskeletal contractures both in spastic paraparesis and tetraparesis, thus improving hygiene and facilitating caregivers' duties. 1, 2 Children with spasticity are often below the normal centile for height and weight when compared with healthy children without disability of the same age and sex. Nutritional problems in patients with moderate to severe cerebral palsy (CP) seem to arise mainly from mild or severe feeding dysfunction. 3, 4 Little is known about the role in malnutrition of other factors, such as spasticity. In 2001 a report 5 suggested that by improving spasticity ITB therapy may also reduce caloric expenditure, thus normalizing children's growth. We retrospectively collected weight and height data for three children who attended our service and underwent implantation of an ITB pump (Syncromed Model EL, 8627-10, Medtronic Inc, Minneapolis, USA). All children had spastic quadriplegia: patient 1, following post-anoxic damage after a cardiocirculatory arrest at age of 2 years and 6 months; patient 2, as a result of having CP; and patient 3, due to having chromosomal encephalopathy (deletion 22q11.2). Children's age, sex, weight, height, and spasticity outcome measures are listed in Table I. The following scales were performed in order to assess spasticity: modified Ashworth scale; Penn Spasm Frequency Score; and Deep Tendon Reflexes Scale (see Table I legend for relative scores). Firstly, these three patients show that ITB therapy markedly improves spasticity, thus helping to improve childcare and, thereby, inducing secondary benefits in general terms. Secondly, they show that ITB therapy achieves excellent benefits in terms of growth, with a conspicuous gain in weight and height.
This is a PDF file of an article that has undergone enhancements after acceptance, such as the ad... more This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
The aim of this short communication is to discuss the mechanism, modality and treatment of ifosfa... more The aim of this short communication is to discuss the mechanism, modality and treatment of ifosfamide encephalopathy. We present the case of a 52-year-old woman treated with this alkylating agent who developed severe neurotoxicity. It was resolved with administration of Methylene blue, abundant intravenous hydration and interruption of ifosfamide.
Background Law 219/2017 was approved in Italy in December 2017, after a years-long debate on the ... more Background Law 219/2017 was approved in Italy in December 2017, after a years-long debate on the autonomy of healthcare choices. This Law, for the first time in Italian legislation, guarantees the patient’s right to request for withdrawal of life-sustaining treatments, including mechanical ventilation (MV). Objective To investigate the current status of MV withdrawal in amyotrophic lateral sclerosis (ALS) patients in Italy and to assess the impact of Law 219/2017 on this practice. Methods We conducted a Web-based survey, addressed to Italian neurologists with expertise in ALS care, and members of the Motor Neuron Disease Study Group of the Italian Society of Neurology. Results Out of 40 ALS Italian centers, 34 (85.0%) responded to the survey. Law 219/2017 was followed by an increasing trend in MV withdrawals, and a significant increase of neurologists involved in this procedure (p 0.004). However, variations across Italian ALS centers were observed, regarding the inconsistent involv...
Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active. Methods: A total of 14 healthy volunteers were enrolled (3 females and 11 males, mean age 28.5 years). Both upper limbs by were used for examination. The stimulation cite of FDP was at elbow and the recording cite of FDP was 8 cm distal from elbow and just above the contracted FDP muscle. We evaluated the baseline-to-peak amplitude of CMAPs of FDPs. The CMAPs of FDPs by median nerve stimulation (FDPm) and ulnar nerve stimulation (FDPu), and other routine CMAPs were recorded. Additionally, we evaluated the summed amplitude of FDPm and FDPu (FDPsum). We analyzed the relationships between FDPm and FDPu amplitude and the others; grip strength, other routine CMAP amplitude and so forth. Results: The CMAPs of FDPs were recorded from 28 arms from 14 healthy individuals. All individuals completed the examinations. The test-retest analysis of CMAPs of FDPs showed that the grip power was highly correlated with FDPm, FDPu, FDPsum, lateral pinch strength and chuck pinch strength, whereas ADM and APB were not correlated with FDPm, FDPu, FDPsum, grip power, lateral pinch strength and chuck pinch strength. Age was not related with any CMAPs amplitude. The FDPm, FDPu and FDPsum might be novel and useful measurement of muscle strength. Conclusion: Because evaluating the muscle strength of FDP is difficult, electrophysiological evaluation of FDP would be a good indicator of muscle strength. Although the nerve innervation of FDPs were independent by individuals, that the FDP CMAPs were correlated with grip power and other pinch strengths could be a powerful tool of novel muscle measurement.
Aims. To evaluate the sensitivity (SE), specificity (SP), positive predictive value (PPV), and ne... more Aims. To evaluate the sensitivity (SE), specificity (SP), positive predictive value (PPV), and negative predictive value (NPV) of neurophysiological tests in patients with neurological diseases and pelvic floor symptoms. Methods. Sixty-four of 111 outpatients who came to our attention for pelvic floor symptoms presented with neurological disorders (32 lower motor neuron disease [LMND], 30 upper motor neuron disease [UMND], 2 with mixed clinical picture). Forty-seven patients with chronic pelvic pain served as controls. All underwent neurological/perineal clinical evaluation and a battery of neurophysiological tests: concentric-needle electromyography (CNEMG) of external anal sphincter (EAS) muscle, pudendal evoked potentials (pPEPs), sacral reflexes, and perineal sympathetic skin response (pSSR). Upper and lower limits of normal values were collected and compared to patients' data. SE, SP, PPV, and NPV were calculated for each neurophysiological exam. Results. CNEMG of the EAS s...
Background and purposeIn its initial stages, Guillain–Barré syndrome (GBS) is difficult to identi... more Background and purposeIn its initial stages, Guillain–Barré syndrome (GBS) is difficult to identify, because diagnostic criteria may not always be fulfilled. With this retrospective study, we wanted to identify the most common electrophysiological abnormalities seen on neurophysiological examination of GBS patients and its variants in the early phases.MethodsWe reviewed the clinical records of patients admitted to our Neurology Unit with a confirmed diagnosis of GBS. The study sample was divided in two subgroups according to whether the neurophysiological examination was performed: within 7 days (very early group) or within 7–15 days (early group). H reflex, F waves, and motor and sensory conduction parameters were judged abnormal if they were outside the normal range for at least two nerves. We evaluated neurophysiological findings in Miller–Fisher syndrome (MFS) separately.ResultsThe study sample comprised 36 patients. In GBS, the most frequent abnormal neurophysiological paramete...
The aim of this short communication is to discuss the mechanism, modality and treatment of ifosfa... more The aim of this short communication is to discuss the mechanism, modality and treatment of ifosfamide encephalopathy. We present the case of a 52-year-old woman treated with this alkylating agent who developed severe neurotoxicity. It was resolved with administration of Methylene blue, abundant intravenous hydration and interruption of ifosfamide.
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