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Sabrina Matà

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Retrospective observational study on the use of acetyl-l-carnitine in ALS

Journal of Neurology

ALCAR (Acetyl-L-carnitine) is a donor of acetyl groups and increases the intracellular levels of ... more ALCAR (Acetyl-L-carnitine) is a donor of acetyl groups and increases the intracellular levels of carnitine, the primary transporter of fatty acids across the mitochondrial membranes. In vivo studies showed that ALCAR decrease oxidative stress markers and pro-inflammatory cytokines. In a previous double-blind placebo-controlled phase II trial showed positive effects on self-sufficiency (defined as a score of 3+ on the ALSFRS-R items for swallowing, cutting food and handling utensils, and walking) ALSFRS-R total score and FVC. We conducted an observational, retrospective, multicentre, case–control study to provide additional data on the effects of ALCAR in subjects with ALS in Italy. Subjects treated with ALCAR 1.5 g/day or 3 g/day were included and matched with not treated subjects by sex, age at diagnosis, site of onset, and time from diagnosis to baseline, (45 subjects per group). ALCAR 3 g/day vs not treated: 22 not treated subjects (48.9%) were still alive at 24 months after base...

Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy

Journal of Neurology, Neurosurgery & Psychiatry

BackgroundTo assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Societ... more BackgroundTo assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) clinical criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) to include within their classification the whole spectrum of clinical heterogeneity of the disease and to define the clinical characteristics of the unclassifiable clinical forms.MethodsThe 2021 EAN/PNS clinical criteria for CIDP were applied to 329 patients fulfilling the electrodiagnostic (and in some cases also the supportive) criteria for the diagnosis of CIDP. Clinical characteristics were reviewed for each patient not strictly fulfilling the clinical criteria (‘unclassifiable’).ResultsAt study inclusion, 124 (37.5%) patients had an unclassifiable clinical presentation, including 110 (89%) with a typical CIDP-like clinical phenotype in whom some segments of the four limbs were unaffected by weakness (‘incomplete typical CIDP’), 10 (8%) with a mild distal, symmetric, sensory or sensorim...

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies

Genes

Thanks to advances in gene sequencing, RYR1-related myopathy (RYR1-RM) is now known to manifest i... more Thanks to advances in gene sequencing, RYR1-related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to develop a novel unsupervised cluster analysis method in a large patient population. The objective was to analyze the main RYR1-related characteristics to identify distinctive features of RYR1-RM and, thus, offer more precise genotype–phenotype correlations in a group of potentially life-threatening disorders. We studied 600 patients presenting with a suspicion of inherited myopathy, who were investigated using next-generation sequencing. Among them, 73 index cases harbored variants in RYR1. In an attempt to group genetic variants and fully exploit information derived from genetic, morphological, and clinical datasets, we performed unsupervised cluster analysis in 64 probands carrying monoallelic variants. Most of the 73 patients with positive molecular diagnoses were clinic...

[Asn31(N-beta-D-Glucopyranosyl)]hMOG(30-50): an antigen to identify anti-hMOG peptide antibodies in multiple sclerosis patients

Tubular Aggregates Myopathy: case description

Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients

Frontiers in Neuroscience, 2021

ObjectiveTo study the possible implication of the two biomarkers, intermediate alleles (IAs) of t... more ObjectiveTo study the possible implication of the two biomarkers, intermediate alleles (IAs) of the Huntingtin (HTT) gene and neurofilament light chain (NfL) levels in plasma, in amyotrophic lateral sclerosis (ALS) patients.MethodsWe analyzed IAs in a cohort of 106 Italian ALS patients and measured the plasma NfL levels in 20% of the patients of the cohort. We correlated the two biomarkers with clinical phenotypes.ResultsIntermediate alleles were present in 7.5% of the patients of our cohort, a frequency higher than that reported in general population. Plasma NfL levels increased with age at onset (p < 0.05). Patients with bulbar onset (BO) had higher plasma NfL concentration (CI −0.61 to −0.06, p = 0.02) and a later age at onset of the disease (CI −24.78 to −4.93, p = 0.006) with respect to the spinal onset (SO) form. Additionally, two of the patients, with IAs and plasma NfL concentration lower with respect to normal alleles’ carriers, presented an age at onset higher than the ...

Expanding the clinical and genetic spectrum of pathogenic variants in STIM1

Muscle & Nerve, 2021

Introduction/AimsStromal interaction molecule 1 (STIM1) is a reticular Ca2+ sensor composed of a ... more Introduction/AimsStromal interaction molecule 1 (STIM1) is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Autosomal dominant mutations in STIM1 cause tubular aggregate myopathy and Stormorken syndrome or its variant York platelet syndrome. In this study we aimed to expand the features related to new variants in STIM1.MethodsWe performed a cross‐sectional study of individuals harboring monoallelic STIM1 variants recruited at five tertiary centers involved in a study of inherited myopathies analyzed with a multigene‐targeted panel.ResultsWe identified seven individuals (age range, 26‐57 years) harboring variants in STIM1, including five novel changes: three located in the EF‐hand domain, one in the sterile α motif (SAM) domain, and one in the cytoplasmatic region of the protein. Functional evaluation of the pathogenic variants using a heterologous expression system and measuring store‐operated calcium entry demonstrated their causative role and suggested a link ...

The Italian multicenter experience with edaravone in amyotrophic lateral sclerosis

Journal of Neurology, 2020

Anyone can freely access the full text of works made available as "Open Access". Works made avail... more Anyone can freely access the full text of works made available as "Open Access". Works made available under a Creative Commons license can be used according to the terms and conditions of said license. Use of all other works requires consent of the right holder (author or publisher) if not exempted from copyright protection by the applicable law.

A case of limbic encephalitis evolving into a frontotemporal dementia‐like picture

Psychogeriatrics, 2019

A case of limbic encephalitis evolving into a frontotemporal dementia-like picture Autoimmune enc... more A case of limbic encephalitis evolving into a frontotemporal dementia-like picture Autoimmune encephalitis (AE) is a group of diseases caused by immunomediated brain damage. Different antibodies (Abs) directed against surface neuronal antigens are involved in the pathogenesis of AE. Abs directed against the receptor B for gamma-aminobutyric acid (GABA-BR) and against the contactin-associated protein-2 (CASPR2) occur with clinical and radiological features of limbic encephalitis (LE). 1 Usually patients respond to immunotherapy and/or to the treatment of a concomitant cancer; however, behavioural and memory changes may be found at follow-up. Recently some cases of overt frontotemporal dementia (FTD) associated with neuronal-surface Abs have been described, 2,3 supporting the hypothesis that immunological processes are involved in its pathophysiology. A 71-yearold man was evaluated in 2010 because of a 5-month history of memory deficit referred by an informant. Neuropsychological tests showed deficits in memory encoding and retrieval: Mini-Mental Test Examination (MMSE) score 29 (neuropsychological test results reported as supporting information). Tests performed 1 month before were in the normal range, suggesting a subacute onset of objectifiable cognitive symptoms. Brain magnetic resonance imaging (MRI) on T2 fluidattenuated inversion recovery-weighted imaging (WI) showed signal increase in temporo-mesial areas, suggestive of LE (Fig. 1a). The diagnosis was supported by the occurrence of left hippocampal hypermetabolism detected by an 18 fluorodeoxyglucose-positron emission tomography (FDG-PET) scan (Fig. 1b), whereas frontal metabolism was preserved (Fig. 1c). An electroencephalography (EEG) showed unspecified theta waves involving the temporal lobes. Thyroid hormones, folate, B 12 vitamin and serum sodium concentration were normal. Autoantibody panel, including onconeural Abs was negative. An adenomatous polyp and a low-grade papillary urothelial carcinoma were found and removed at the conclusion of an extensive cancer work-up. According to Graus, 4 this case was compatible with 'paraneoplastic LE', then it was decided to avoid immunosuppressive therapy. Cognitive impairment remained

Acute Symptomatic Sinus Bradycardia in High-Dose Methylprednisolone Therapy in a Woman With Inflammatory Myelitis: A Case Report and Review of the Literature

Clinical Medicine Insights: Case Reports, 2019

High dose corticosteroid therapy is widely used as attack therapy of inflammatory central nervous... more High dose corticosteroid therapy is widely used as attack therapy of inflammatory central nervous system disorders and can induce several adverse reactions. Bradycardia is an infrequent event after corticosteroids administration and is often asymptomatic. We report a case of a woman admitted to the neurological department of our hospital for paraesthesias of the lower limbs. She received adiagnosis of inflammatory myelitis and high dose corticosteroid therapy was prescribed. During the therapy she complained of chest tightness, dyspnoea, weakness and malaise. An electrocardiogram revealed sinus bradycardia. A significant increase in body weight, probably due to plasma volume expansion, was detected. Bradycardia and high blood pressure spontaneously resolved in few days. We provide a collection and a statistical analysis of literature data about steroid induced bradycardia. We found that higher total doses are associated with lower pulse rate and symptomatic bradycardia. Bradycardia ...

Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline

Journal of Alzheimer's disease : JAD, Jan 30, 2017

A new risk gene associated with amyotrophic lateral sclerosis (ALS) has recently been identified:... more A new risk gene associated with amyotrophic lateral sclerosis (ALS) has recently been identified: the Tank-binding kinase 1 (TBK1) gene. Up to now, 90 TBK1 variants have been described in ALS patients with or without frontotemporal dementia (FTD), thus making TBK1 the third or fourth most frequent genetic cause of ALS and FTD. A point mutation analysis in a cohort of 69 Italian ALS patients was performed in order to analyze the frequency of TBK1 mutations and the correlation with clinical phenotypes. The analysis identified the novel variant p.Tyr424Asp in a patient with a rapid progression of the disease. Our data supports the implication of TBK1 in ALS pathogenesis in Italy.

Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (The PATH Study): study protocol for a randomized controlled trial

Trials, Jul 25, 2016

Subcutaneous administration of Ig (SCIg) has gained popularity as an alternative route of adminis... more Subcutaneous administration of Ig (SCIg) has gained popularity as an alternative route of administration but has never been rigorously examined in chronic inflammatory demyelinating polyneuropathy (CIDP). The primary objective of the PATH study (Polyneuropathy and Treatment with Hizentra) is to determine the efficacy of two different doses of SCIg IgPro20 (0.2 g/kg bw or 0.4 g/kg bw) in a 24-week maintenance treatment of CIDP in comparison to placebo. The primary efficacy endpoint will be the proportion of patients who show CIDP relapse (1-point deterioration on the adjusted Inflammatory Neuropathy Cause and Treatment (INCAT) disability score) or are withdrawn within 24 weeks after randomization for any reason. IVIg-dependent adult patients with definite or probable CIDP according to the European Federation of Neurological Societies/Peripheral Nerve Society who fulfil the inclusion and exclusion criteria will be eligible. Based on sample-size calculation and relapse assumptions in t...

Association between acute motor axonal neuropathy and septic shock due to Acinetobacter baumannii

Le infezioni in medicina : rivista periodica di eziologia, epidemiologia, diagnostica, clinica e terapia delle patologie infettive, 2015

In this report, we describe a case of acute motoral axonal neuropathy (AMAN) following septic sho... more In this report, we describe a case of acute motoral axonal neuropathy (AMAN) following septic shock due to Acinetobacter baumannii. The aetiology of AMAN is still not fully clarified. An association with a potential infection by Campylobacter jejuni, resulting in stimulation of autoimmune response against gangliosides mediated by a phenomenon of molecular mimicry, is believed to play a major role. Since the lipopolysaccharide of A. baumannii has a structure that is similar to that of C. jejuni, we hypothesise that the infection by A. baumannii in our patient may have had a pathogenic role in the development of the neurological picture via a mechanism of molecular mimicry.

ERPs and RTs during performance of concurrent tasks of increasing difficulties

Electroencephalography and Clinical Neurophysiology, 1995

each stimulus intensity. The examination was considered pathological when wave latencies and/or i... more each stimulus intensity. The examination was considered pathological when wave latencies and/or interpeak intervals had increased more than 2 S.D. with respect to data obtained in controls, or when one of the components was absent. Twenty patients (83.3%) had normal BAEPs. These data do not support the hypothesis of acoustic pathway/brain-stem involvement in Bell's palsy. 86. Eighth cranial nerve involvement in multiple sclerosis (MS): BAEP and MRI follow-up of a patient.-R Bergamaschi, A.

Intravenous versus subcutaneous immunoglobulin therapy in multifocal motor neuropathy

http://isrctn.org/>, 2012

Highlights  Higher mean serum IgG levels are reached when using the subcutaneous route after a s... more Highlights  Higher mean serum IgG levels are reached when using the subcutaneous route after a switch from the intravenous immunoglobulin replacement.  Intravenous immunoglobulin replacement and subcutaneous immunoglobulin replacement offer comparable protection against infections.  Subcutaneous immunoglobulin administration, at the steady state, allows to achieve a lower variability of IgG serum levels than Intravenous administration.

Plasma exchange for anti GAD associated non paraneoplastic limbic encephalitis

Transfusion and Apheresis Science, 2008

Limbic encephalitis (LE) is a neurological syndrome usually presenting in a paraneoplastic form. ... more Limbic encephalitis (LE) is a neurological syndrome usually presenting in a paraneoplastic form. Recently many cases were reported with no concurring neoplasia, presenting with specific antibodies for voltage-gated potassium channel or for neuronal membrane antigens. Anti-glutamic acid decarboxylase (GAD) antibodies act against GABAergic receptors of the central nervous system. These antibodies were found in coeliac disease serum and in neurologic patients. We are reporting a case of a 21-year-old coeliac woman manifesting complex multiple-daily partial drug-resistant seizures for 7 years. The diagnosis was of a non paraneoplastic limbic encephalitis, unresponsive to high dose cortisone and IGIV infusion. The use of therapeutic plasma exchange (TPE) has resulted in an improvement in symptoms with quite a long disease-free period of time. When the frequency of the procedures was decreased, seizures appeared again and, after suspension of TPE, the clinical status worsened. The role of TPE in the treatment of LE still has to be defined.

Recombinant MOG from baculovirus inhibits anti-hMOG(30-50) antibodies detected by the synthetic antigen [Asn31(Glc)]hMOG(30-50)

Peptides for the New Millennium

Myelin oligodendrocyte glycoprotein (MOG) is a candidate autoantigen in multiple sclerosis (MS). ... more

Intravenous immune globulin usage for neurological and neuromuscular disorders: an academic centre, 4 years experience

Neurological Sciences, 2009

Intravenous immune globulin (IVIg) use for labeled and unlabeled indications has grown in the las... more Intravenous immune globulin (IVIg) use for labeled and unlabeled indications has grown in the last years. Aim of this study was to evaluate the IVIg usage profile for neurological inpatients in a single academic medical centre, over a long period of time. We retrospectively reviewed all approved IVIg transfusions for neurological disorders at Careggi Hospital from 2003 to 2006. The pharmacy records were then cross-referenced with patient medical records to determine the indication for IVIg administration. From 2003 to 2006 we observed a tremendous increase in IVIg administration, in the annual number of treated patients and in the mean annual courses. Fifty-seven patients (24%) received a long-term IVIg treatment, which accounted for 61% of the total IVIg consumption. The use of IVIg continues to expand despite concerns on future availability and long-term safety; alternative treatment strategies in chronic neurological disorders which require long-term, potentially indefinite therapy are warranted.

2011 Meeting of the Peripheral Nerve Society June 25-29, 2011 Potomac, Maryland

Journal of the Peripheral Nervous System, 2011

Ataxia with oculomotor apraxia type 2 (AOA2) is caused by mutations in the SETX gene encoding Sen... more

Motor nerve damage is associated with anti-ganglioside antibodies in diabetes

Journal of the Peripheral Nervous System, 2004

Few reports exist on the association between the humoral immune response to glycolipids and neuro... more Few reports exist on the association between the humoral immune response to glycolipids and neuropathic findings in diabetes. To address this issue, we assayed serum anti-GM1, GD1b, GD1a, and sulfatides IgG and IgM in a group of 85 non-selected diabetic patients, and correlated these antibodies to clinical and electrophysiological findings. Diabetic patients had higher mean titers of anti-GM1 (IgM), GD1b, GD1a, and sulfatide (IgG) antibodies when compared to healthy controls. Patients with a positive titer of anti-ganglioside antibodies had significant alterations of motor conduction parameters. The statistical significance increased when considering those patients with both antiganglioside reactivity and a high value for glycosylated hemoglobin. Production of antibodies to ganglioside may follow the exposure of hidden motor nerve epitopes in damaged motor nerves and contribute to the neuropathy.

Retrospective observational study on the use of acetyl-l-carnitine in ALS

Journal of Neurology

ALCAR (Acetyl-L-carnitine) is a donor of acetyl groups and increases the intracellular levels of ... more ALCAR (Acetyl-L-carnitine) is a donor of acetyl groups and increases the intracellular levels of carnitine, the primary transporter of fatty acids across the mitochondrial membranes. In vivo studies showed that ALCAR decrease oxidative stress markers and pro-inflammatory cytokines. In a previous double-blind placebo-controlled phase II trial showed positive effects on self-sufficiency (defined as a score of 3+ on the ALSFRS-R items for swallowing, cutting food and handling utensils, and walking) ALSFRS-R total score and FVC. We conducted an observational, retrospective, multicentre, case–control study to provide additional data on the effects of ALCAR in subjects with ALS in Italy. Subjects treated with ALCAR 1.5 g/day or 3 g/day were included and matched with not treated subjects by sex, age at diagnosis, site of onset, and time from diagnosis to baseline, (45 subjects per group). ALCAR 3 g/day vs not treated: 22 not treated subjects (48.9%) were still alive at 24 months after base...

Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy

Journal of Neurology, Neurosurgery & Psychiatry

BackgroundTo assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Societ... more BackgroundTo assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) clinical criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) to include within their classification the whole spectrum of clinical heterogeneity of the disease and to define the clinical characteristics of the unclassifiable clinical forms.MethodsThe 2021 EAN/PNS clinical criteria for CIDP were applied to 329 patients fulfilling the electrodiagnostic (and in some cases also the supportive) criteria for the diagnosis of CIDP. Clinical characteristics were reviewed for each patient not strictly fulfilling the clinical criteria (‘unclassifiable’).ResultsAt study inclusion, 124 (37.5%) patients had an unclassifiable clinical presentation, including 110 (89%) with a typical CIDP-like clinical phenotype in whom some segments of the four limbs were unaffected by weakness (‘incomplete typical CIDP’), 10 (8%) with a mild distal, symmetric, sensory or sensorim...

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies

Genes

Thanks to advances in gene sequencing, RYR1-related myopathy (RYR1-RM) is now known to manifest i... more Thanks to advances in gene sequencing, RYR1-related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to develop a novel unsupervised cluster analysis method in a large patient population. The objective was to analyze the main RYR1-related characteristics to identify distinctive features of RYR1-RM and, thus, offer more precise genotype–phenotype correlations in a group of potentially life-threatening disorders. We studied 600 patients presenting with a suspicion of inherited myopathy, who were investigated using next-generation sequencing. Among them, 73 index cases harbored variants in RYR1. In an attempt to group genetic variants and fully exploit information derived from genetic, morphological, and clinical datasets, we performed unsupervised cluster analysis in 64 probands carrying monoallelic variants. Most of the 73 patients with positive molecular diagnoses were clinic...

[Asn31(N-beta-D-Glucopyranosyl)]hMOG(30-50): an antigen to identify anti-hMOG peptide antibodies in multiple sclerosis patients

Tubular Aggregates Myopathy: case description

Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients

Frontiers in Neuroscience, 2021

ObjectiveTo study the possible implication of the two biomarkers, intermediate alleles (IAs) of t... more ObjectiveTo study the possible implication of the two biomarkers, intermediate alleles (IAs) of the Huntingtin (HTT) gene and neurofilament light chain (NfL) levels in plasma, in amyotrophic lateral sclerosis (ALS) patients.MethodsWe analyzed IAs in a cohort of 106 Italian ALS patients and measured the plasma NfL levels in 20% of the patients of the cohort. We correlated the two biomarkers with clinical phenotypes.ResultsIntermediate alleles were present in 7.5% of the patients of our cohort, a frequency higher than that reported in general population. Plasma NfL levels increased with age at onset (p < 0.05). Patients with bulbar onset (BO) had higher plasma NfL concentration (CI −0.61 to −0.06, p = 0.02) and a later age at onset of the disease (CI −24.78 to −4.93, p = 0.006) with respect to the spinal onset (SO) form. Additionally, two of the patients, with IAs and plasma NfL concentration lower with respect to normal alleles’ carriers, presented an age at onset higher than the ...

Expanding the clinical and genetic spectrum of pathogenic variants in STIM1

Muscle & Nerve, 2021

Introduction/AimsStromal interaction molecule 1 (STIM1) is a reticular Ca2+ sensor composed of a ... more Introduction/AimsStromal interaction molecule 1 (STIM1) is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Autosomal dominant mutations in STIM1 cause tubular aggregate myopathy and Stormorken syndrome or its variant York platelet syndrome. In this study we aimed to expand the features related to new variants in STIM1.MethodsWe performed a cross‐sectional study of individuals harboring monoallelic STIM1 variants recruited at five tertiary centers involved in a study of inherited myopathies analyzed with a multigene‐targeted panel.ResultsWe identified seven individuals (age range, 26‐57 years) harboring variants in STIM1, including five novel changes: three located in the EF‐hand domain, one in the sterile α motif (SAM) domain, and one in the cytoplasmatic region of the protein. Functional evaluation of the pathogenic variants using a heterologous expression system and measuring store‐operated calcium entry demonstrated their causative role and suggested a link ...

The Italian multicenter experience with edaravone in amyotrophic lateral sclerosis

Journal of Neurology, 2020

Anyone can freely access the full text of works made available as "Open Access". Works made avail... more Anyone can freely access the full text of works made available as "Open Access". Works made available under a Creative Commons license can be used according to the terms and conditions of said license. Use of all other works requires consent of the right holder (author or publisher) if not exempted from copyright protection by the applicable law.

A case of limbic encephalitis evolving into a frontotemporal dementia‐like picture

Psychogeriatrics, 2019

A case of limbic encephalitis evolving into a frontotemporal dementia-like picture Autoimmune enc... more A case of limbic encephalitis evolving into a frontotemporal dementia-like picture Autoimmune encephalitis (AE) is a group of diseases caused by immunomediated brain damage. Different antibodies (Abs) directed against surface neuronal antigens are involved in the pathogenesis of AE. Abs directed against the receptor B for gamma-aminobutyric acid (GABA-BR) and against the contactin-associated protein-2 (CASPR2) occur with clinical and radiological features of limbic encephalitis (LE). 1 Usually patients respond to immunotherapy and/or to the treatment of a concomitant cancer; however, behavioural and memory changes may be found at follow-up. Recently some cases of overt frontotemporal dementia (FTD) associated with neuronal-surface Abs have been described, 2,3 supporting the hypothesis that immunological processes are involved in its pathophysiology. A 71-yearold man was evaluated in 2010 because of a 5-month history of memory deficit referred by an informant. Neuropsychological tests showed deficits in memory encoding and retrieval: Mini-Mental Test Examination (MMSE) score 29 (neuropsychological test results reported as supporting information). Tests performed 1 month before were in the normal range, suggesting a subacute onset of objectifiable cognitive symptoms. Brain magnetic resonance imaging (MRI) on T2 fluidattenuated inversion recovery-weighted imaging (WI) showed signal increase in temporo-mesial areas, suggestive of LE (Fig. 1a). The diagnosis was supported by the occurrence of left hippocampal hypermetabolism detected by an 18 fluorodeoxyglucose-positron emission tomography (FDG-PET) scan (Fig. 1b), whereas frontal metabolism was preserved (Fig. 1c). An electroencephalography (EEG) showed unspecified theta waves involving the temporal lobes. Thyroid hormones, folate, B 12 vitamin and serum sodium concentration were normal. Autoantibody panel, including onconeural Abs was negative. An adenomatous polyp and a low-grade papillary urothelial carcinoma were found and removed at the conclusion of an extensive cancer work-up. According to Graus, 4 this case was compatible with 'paraneoplastic LE', then it was decided to avoid immunosuppressive therapy. Cognitive impairment remained

Acute Symptomatic Sinus Bradycardia in High-Dose Methylprednisolone Therapy in a Woman With Inflammatory Myelitis: A Case Report and Review of the Literature

Clinical Medicine Insights: Case Reports, 2019

High dose corticosteroid therapy is widely used as attack therapy of inflammatory central nervous... more High dose corticosteroid therapy is widely used as attack therapy of inflammatory central nervous system disorders and can induce several adverse reactions. Bradycardia is an infrequent event after corticosteroids administration and is often asymptomatic. We report a case of a woman admitted to the neurological department of our hospital for paraesthesias of the lower limbs. She received adiagnosis of inflammatory myelitis and high dose corticosteroid therapy was prescribed. During the therapy she complained of chest tightness, dyspnoea, weakness and malaise. An electrocardiogram revealed sinus bradycardia. A significant increase in body weight, probably due to plasma volume expansion, was detected. Bradycardia and high blood pressure spontaneously resolved in few days. We provide a collection and a statistical analysis of literature data about steroid induced bradycardia. We found that higher total doses are associated with lower pulse rate and symptomatic bradycardia. Bradycardia ...

Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline

Journal of Alzheimer's disease : JAD, Jan 30, 2017

A new risk gene associated with amyotrophic lateral sclerosis (ALS) has recently been identified:... more A new risk gene associated with amyotrophic lateral sclerosis (ALS) has recently been identified: the Tank-binding kinase 1 (TBK1) gene. Up to now, 90 TBK1 variants have been described in ALS patients with or without frontotemporal dementia (FTD), thus making TBK1 the third or fourth most frequent genetic cause of ALS and FTD. A point mutation analysis in a cohort of 69 Italian ALS patients was performed in order to analyze the frequency of TBK1 mutations and the correlation with clinical phenotypes. The analysis identified the novel variant p.Tyr424Asp in a patient with a rapid progression of the disease. Our data supports the implication of TBK1 in ALS pathogenesis in Italy.

Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (The PATH Study): study protocol for a randomized controlled trial

Trials, Jul 25, 2016

Subcutaneous administration of Ig (SCIg) has gained popularity as an alternative route of adminis... more Subcutaneous administration of Ig (SCIg) has gained popularity as an alternative route of administration but has never been rigorously examined in chronic inflammatory demyelinating polyneuropathy (CIDP). The primary objective of the PATH study (Polyneuropathy and Treatment with Hizentra) is to determine the efficacy of two different doses of SCIg IgPro20 (0.2 g/kg bw or 0.4 g/kg bw) in a 24-week maintenance treatment of CIDP in comparison to placebo. The primary efficacy endpoint will be the proportion of patients who show CIDP relapse (1-point deterioration on the adjusted Inflammatory Neuropathy Cause and Treatment (INCAT) disability score) or are withdrawn within 24 weeks after randomization for any reason. IVIg-dependent adult patients with definite or probable CIDP according to the European Federation of Neurological Societies/Peripheral Nerve Society who fulfil the inclusion and exclusion criteria will be eligible. Based on sample-size calculation and relapse assumptions in t...

Association between acute motor axonal neuropathy and septic shock due to Acinetobacter baumannii

Le infezioni in medicina : rivista periodica di eziologia, epidemiologia, diagnostica, clinica e terapia delle patologie infettive, 2015

In this report, we describe a case of acute motoral axonal neuropathy (AMAN) following septic sho... more In this report, we describe a case of acute motoral axonal neuropathy (AMAN) following septic shock due to Acinetobacter baumannii. The aetiology of AMAN is still not fully clarified. An association with a potential infection by Campylobacter jejuni, resulting in stimulation of autoimmune response against gangliosides mediated by a phenomenon of molecular mimicry, is believed to play a major role. Since the lipopolysaccharide of A. baumannii has a structure that is similar to that of C. jejuni, we hypothesise that the infection by A. baumannii in our patient may have had a pathogenic role in the development of the neurological picture via a mechanism of molecular mimicry.

ERPs and RTs during performance of concurrent tasks of increasing difficulties

Electroencephalography and Clinical Neurophysiology, 1995

each stimulus intensity. The examination was considered pathological when wave latencies and/or i... more each stimulus intensity. The examination was considered pathological when wave latencies and/or interpeak intervals had increased more than 2 S.D. with respect to data obtained in controls, or when one of the components was absent. Twenty patients (83.3%) had normal BAEPs. These data do not support the hypothesis of acoustic pathway/brain-stem involvement in Bell's palsy. 86. Eighth cranial nerve involvement in multiple sclerosis (MS): BAEP and MRI follow-up of a patient.-R Bergamaschi, A.

Intravenous versus subcutaneous immunoglobulin therapy in multifocal motor neuropathy

http://isrctn.org/>, 2012

Highlights  Higher mean serum IgG levels are reached when using the subcutaneous route after a s... more Highlights  Higher mean serum IgG levels are reached when using the subcutaneous route after a switch from the intravenous immunoglobulin replacement.  Intravenous immunoglobulin replacement and subcutaneous immunoglobulin replacement offer comparable protection against infections.  Subcutaneous immunoglobulin administration, at the steady state, allows to achieve a lower variability of IgG serum levels than Intravenous administration.

Plasma exchange for anti GAD associated non paraneoplastic limbic encephalitis

Transfusion and Apheresis Science, 2008

Limbic encephalitis (LE) is a neurological syndrome usually presenting in a paraneoplastic form. ... more Limbic encephalitis (LE) is a neurological syndrome usually presenting in a paraneoplastic form. Recently many cases were reported with no concurring neoplasia, presenting with specific antibodies for voltage-gated potassium channel or for neuronal membrane antigens. Anti-glutamic acid decarboxylase (GAD) antibodies act against GABAergic receptors of the central nervous system. These antibodies were found in coeliac disease serum and in neurologic patients. We are reporting a case of a 21-year-old coeliac woman manifesting complex multiple-daily partial drug-resistant seizures for 7 years. The diagnosis was of a non paraneoplastic limbic encephalitis, unresponsive to high dose cortisone and IGIV infusion. The use of therapeutic plasma exchange (TPE) has resulted in an improvement in symptoms with quite a long disease-free period of time. When the frequency of the procedures was decreased, seizures appeared again and, after suspension of TPE, the clinical status worsened. The role of TPE in the treatment of LE still has to be defined.

Recombinant MOG from baculovirus inhibits anti-hMOG(30-50) antibodies detected by the synthetic antigen [Asn31(Glc)]hMOG(30-50)

Peptides for the New Millennium

Myelin oligodendrocyte glycoprotein (MOG) is a candidate autoantigen in multiple sclerosis (MS). ... more

Intravenous immune globulin usage for neurological and neuromuscular disorders: an academic centre, 4 years experience

Neurological Sciences, 2009

Intravenous immune globulin (IVIg) use for labeled and unlabeled indications has grown in the las... more Intravenous immune globulin (IVIg) use for labeled and unlabeled indications has grown in the last years. Aim of this study was to evaluate the IVIg usage profile for neurological inpatients in a single academic medical centre, over a long period of time. We retrospectively reviewed all approved IVIg transfusions for neurological disorders at Careggi Hospital from 2003 to 2006. The pharmacy records were then cross-referenced with patient medical records to determine the indication for IVIg administration. From 2003 to 2006 we observed a tremendous increase in IVIg administration, in the annual number of treated patients and in the mean annual courses. Fifty-seven patients (24%) received a long-term IVIg treatment, which accounted for 61% of the total IVIg consumption. The use of IVIg continues to expand despite concerns on future availability and long-term safety; alternative treatment strategies in chronic neurological disorders which require long-term, potentially indefinite therapy are warranted.

2011 Meeting of the Peripheral Nerve Society June 25-29, 2011 Potomac, Maryland

Journal of the Peripheral Nervous System, 2011

Ataxia with oculomotor apraxia type 2 (AOA2) is caused by mutations in the SETX gene encoding Sen... more

Motor nerve damage is associated with anti-ganglioside antibodies in diabetes

Journal of the Peripheral Nervous System, 2004

Few reports exist on the association between the humoral immune response to glycolipids and neuro... more Few reports exist on the association between the humoral immune response to glycolipids and neuropathic findings in diabetes. To address this issue, we assayed serum anti-GM1, GD1b, GD1a, and sulfatides IgG and IgM in a group of 85 non-selected diabetic patients, and correlated these antibodies to clinical and electrophysiological findings. Diabetic patients had higher mean titers of anti-GM1 (IgM), GD1b, GD1a, and sulfatide (IgG) antibodies when compared to healthy controls. Patients with a positive titer of anti-ganglioside antibodies had significant alterations of motor conduction parameters. The statistical significance increased when considering those patients with both antiganglioside reactivity and a high value for glycosylated hemoglobin. Production of antibodies to ganglioside may follow the exposure of hidden motor nerve epitopes in damaged motor nerves and contribute to the neuropathy.