102 research outputs found
Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease (Journal of Neurology, (2023), 270, 11, (5561-5568), 10.1007/s00415-023-11911-y)
No full textThe article Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease, written by Marta Bellofatto, Luca Gentile, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano C. Previtali, Marina Scarlato, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Flavio Villani, Eleonora Cavalca, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Giuseppe Didato, Chiara Pisciotta, Davide Pareyson and for the Italian C. M. T. Network was originally published electronically on the publisher’s internet portal on 04 August 2023 without open access. With the author(s)’ decision to opt for Open Choice the copyright of the article changed on 19 August 2023 to © The Authors 2023 and this article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit. The original article has been corrected
Postural instability in Charcot-Marie-Tooth 1A disease
No full textThe aim of this study was to evaluate the influence of somatosensory impairment, distal muscle weakness and foot deformities on the balance in 21 CMT1A patients using a baropodometric platform. Stabilometric analysis by measuring sway area and velocity of a centre of pressure (CoP) both at open and closed eyes were used to assess postural imbalance. Static analysis, by measuring the load and the plantar surface of forefoot, midfoot and hindfoot was used to define the footprint shape and to assess as a whole foot deformities. Stabilometric and static results were compared with those of a control group. In CMT1A patients, stabilometric findings were correlated with static parameters, Achilles' tendon retraction, distal muscle strength and CMT examination score (CMTES). CMT1A patients compared to controls had lower plantar surface and load on midfoot, and higher load on a forefoot. CMT1A patients had a greater postural instability, since they had a higher CoP velocity, both at open and closed eyes. Moreover, the CoP velocity correlated inversely with the strength of ankle dorsi-flexion muscles and directly with CMTES as whole and with the item "motor symptoms legs". Postural imbalance was not correlated with sensory impairment and foot deformities as expressed by static analysis and Achilles' tendon retraction. In this study we demonstrated an altered balance in CMT1A patients during upright standing. The imbalance in our CMT patients seems to be related to the weakness of ankle dorsi-flexor muscles rather than sensory impairment or foot deformities. These results could be due to a mildly affected CMT1A population, evaluated in an early stage of the disease
Role of Imaging in Chronic Inflammatory Demyelinating Polyneuropathy: A Systematic Review
No full textIntroduction: Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is a treatable immune-mediated neuropathy with a relapsing-remitting course and symmetrical proximal and distal weakness. Diagnosis relies on nerve conduction studies (NCS) to detect demyelination but can be difficult in atypical cases. In such instances, nerve ultrasound (US) and MRI of the brachial and lumbosacral plexuses help improve diagnostic accuracy and guide treatment. This review examines the role of imaging in CIDP, focusing on its contribution to diagnosis, prognosis, and follow-up. Methods: A total of 183 articles were identified in the PubMed database using the search terms: “CIDP AND imaging,” “CIDP AND ULTRASOUND,” and “CIDP AND MRI.” Based on predefined inclusion criteria, 106 articles were selected for review (63 related to US and 43 to MRI). From each included study, data were extracted on the study population, imaging protocols used, outcome measures applied, and main findings relevant to the review's aim. Results: The most used ultrasound and MRI protocols, along with their associated outcome measures, are discussed. Furthermore, the roles of each imaging modality in diagnosis, prognosis, and follow-up are analysed. Conclusion: Although NCS remain the primary instrumental test for the diagnosis of CIDP, US and MRI can be valuable adjuncts in cases with diagnostic uncertainty. Additionally, these imaging modalities may be more useful than NCS in prognostic evaluation, helping in predict treatment response and monitoring subclinical disease activity
Acute onset anti-MAG neuropathy and paradoxical worsening to rituximab: a challenging case
No full textBackground and aim: Anti-myelin-associated glycoprotein (anti-MAG) neuropathy is typically a chronic, progressive, predominantly sensory distal and demyelinating neuropathy, with ataxia and postural tremor Methods and results: Herein we describe an atypical case of anti-MAG neuropathy, characterized by acute lower limb weakness and severe ataxia with difficulty in stance and walking, resembling a Guillain-Barrè Syndrome. The presence of disproportionate distal nerve conduction slowing, and an IgM k monoclonal component have arisen the suspect of anti-MAG neuropathy, confirmed by high titer anti-MAG antibody. Rituximab treatment was started, and patient experienced a dramatic clinical worsening which was rescued by Plasma Exchange. Interpretation: We described an atypical case of anti-MAG neuropathy that was challenging in diagnosis and therapeutic management
Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report
Get PDF: Antagonists of tumour necrosis factor α (TNFα) are a common therapeutic choice for autoimmune diseases. Although they are effective and relatively safe, an increasing number of immune-mediated adverse events have been reported. Among these, neurological adverse effectsm such as consisting of demyelinating events in the central and peripheral nervous system were described. Demyelination of the central nervous system is a rare complication after treatment with TNFα antagonists. Here, we report a case of multiple sclerosis under treatment with TNFα antagonists and discuss its etiopathogenesis. This 45-year-old female patient developed signs and symptoms suggestive of primary progressive multiple sclerosis during treatment with adalinumab for nodular cystic acne, and magnetic resonance imaging of the patient showed typical lesions of demyelinating disease
Correction to: Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy(Neurological Sciences, (2024), 10.1007/s10072-024-07494-9)
No full textThe article “Long‐term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real‐world experience in Italy”, written by Luca Gentile, Anna Mazzeo, Chiara Briani, Silvia Casagrande, Marcella De Luca1, Gian Maria Fabrizi, Christian Gagliardi, Chiara Gemelli, Francesca Forcina, Marina Grandis, Valeria Guglielmino, Giacomo Iabichella, Luca Leonardi, Alessandro Lozza, Fiore Manganelli, Roberta Mussinelli, Filomena My, Giuseppe Occhipinti, Silvia Fenu, Massimo Russo, Angela Romano, Alessandro Salvalaggio, Matteo Tagliapietra, Stefano Tozza, Giovanni Palladini, Laura Obici and Marco Luigetti, was originally published electronically on the publisher’s internet portal on 16 April 2024 without open access. With the author(s)’ decision to opt for Open Choice the copyright of the article changed on 27 July 2024 to © The Author(s) 2024 and the article is forthwith distributed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0. The original article has been corrected
A case of severe increase of liver enzymes in a ATTRv patient after one year of inotersen treatment
Get PDFBACKGROUND: Inotersen is an antisense oligonucleotide used to treat hereditary transthyretin amyloidosis (ATTRv). The most common drug-related adverse effects (AEs) include thrombocytopenia and glomerulonephritis. Hepatic damage is rare, but liver enzyme monitoring is mandatory. CASE REPORT: A 70-year-old man with ATTRv (Val30Met) treated with inotersen developed a severe increase of transaminases, with normal bilirubin and cholinesterase levels, that forced us to stop therapy. At the same time, other causes of acquired hepatitis were excluded, and the hypothesis of an inotersen-related hepatic toxicity was supported by the normalization of liver enzymes after 40 days from the drug interruption. DISCUSSION: Our case showed that 1-year inotersen treatment can stabilize neurological impairment and even improve quality of life and suggests to carefully monitor liver enzymes in order to avoid an inotersen-related hepatic dysfunction
Value of Antibody Determinations in Chronic Dysimmune Neuropathies
Get PDFChronic dysimmune neuropathies encompass a group of neuropathies that share immune-mediated pathomechanism. Chronic dysimmune antibody-related neuropathies include anti-MAG neuropathy, multifocal motor neuropathy, and neuropathies related to immune attack against paranodal antigens. Such neuropathies exhibit distinguishing pathomechanism, clinical and response to therapy features with respect to chronic inflammatory demyelinating polyradiculoneuropathy and its variants, which represent the most frequent form of chronic dysimmune neuropathy. This narrative review provides an overview of pathomechanism; clinical, electrophysiological, and biochemical features; and treatment response of the antibody-mediated neuropathies, aiming to establish when and why to look for antibodies in chronic dysimmune neuropathies
One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?
No full textAtaluren was approved for the treatment of nmDMD, both the efficacy and safety have been previously reported only from clinical trials but no report exists about real-life experience
Early predictive factors of disability in CIDP
No full textThe objective of this study was to identify early clinical, biochemical and electrophysiological prognostic factors of disability in CIDP. We evaluated a dataset from 60 CIDP patients that included sex, age of onset, type of onset, phenotype, disease duration, response to treatment, disability at the time of diagnosis assessed using the modified Rankin Scale (baseline mRS), cerebrospinal fluid protein levels and electrophysiological data. All patients had clinical assessment of disability through the mRS within the last 6 months (last mRS) before enrollment in the study. Stepwise forward logistic regression model was applied to evaluate the impact of clinical, biochemical and electrophysiological parameters on the last mRS, considered as binary outcome (absence or presence of severe disability, i.e., <4/≥4 mRS). Moreover, we used Spearman's rank correlation coefficient to evaluate the relationship between disease duration and last mRS. We observed a significant relationship between last mRS and baseline mRS [p = 0.015, z = 2.44, OR 5.15 (CI 1.38-19.22)] and age of onset [p = 0.017, z = 2.39, OR 1.13 (CI 1.02-1.27) per additional year of age of onset]. There was no correlation between disease duration and last mRS. Our data suggest that a worse clinical status at the beginning of disease and an older age at onset may be negative prognostic factors of long-term disability independent from disease duration
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