Article
Multidisciplinary Sciences
Shaishav Dhage, Maryam Ferdousi, Safwaan Adam, Jan Hoong Ho, Alise Kalteniece, Shazli Azmi, Uazman Alam, Georgios Ponirakis, Ioannis Petropoulos, Andrew J. Atkinson, Andrew Marshall, Maria Jeziorska, Handrean Soran, Rayaz A. Malik
Summary: The study demonstrates the worsening of diabetic neuropathy across various measures, especially with corneal confocal microscopy (CCM), despite improvements in HbA1c and LDL-C. It further supports the utility of CCM as a rapid, non-invasive surrogate measure of diabetic neuropathy.
SCIENTIFIC REPORTS
(2021)
Review
Medicine, General & Internal
Mary A. Kelley, Kevin V. Hackshaw
Summary: Small fiber neuropathy is a type of peripheral neuropathy caused by damage to small A-delta and C nerve fibers. Diagnosis usually involves skin biopsies, and while there is no clear phenotype in fibromyalgia to suggest who may have SFN, research shows it may be correlated with severe cases.
Article
Dermatology
A. L. Akabane, G. P. Snnith
Summary: This study aimed to characterize dermatologic manifestations in patients with SFN and found a wide range of clinical features that affect the skin, with characteristic findings affecting the extremities. Symptoms included pain, numbness, edema, skin color changes, hair loss, Raynaud's phenomenon, erythromelalgia, itch, and localized eczematous dermatitis.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2022)
Article
Clinical Neurology
Tabea Seeliger, Henrike Neelke Dreyer, Janna Margaretha Siemer, Lena Boenig, Stefan Gingele, Maike Franziska Dohrn, Nils Prenzler, Diana Ernst, Torsten Witte, Thomas Skripuletz
Summary: Sjogren's syndrome is a potentially treatable cause of Small Fiber Neuropathy (SFN). This study found no significant differences in symptoms and cerebrospinal fluid parameters between SFN patients with and without Sjogren's syndrome. However, SFN patients with Sjogren's syndrome had lower intraepidermal nerve fiber densities, suggesting a different pathomechanism.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Marta Francisca Corra, Mafalda Sousa, Ines Reis, Fabiana Tanganelli, Nuno Vila-Cha, Ana Paula Sousa, Rui Magalhaes, Paula Sampaio, Ricardo Taipa, Luis Maia
Summary: An automated method for fast and reliable detection of small nerve fibers in skin biopsies has been developed, showing clear advantages over classical manual techniques. This method reduces operator-dependency, improves diagnostic accuracy, and saves time.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2021)
Article
Clinical Neurology
G. Piscosquito, V Provitera, S. Mozzillo, G. Caporaso, I Borreca, A. Stancanelli, F. Manganelli, L. Santoro, M. Nolano
Summary: This study introduces a new parameter, inter-fibre distance, to improve the diagnostic efficiency of SFN. The results showed that while there was not a significant difference in inter-fibre distances between patients and healthy controls, patients had a significantly higher relative standard deviation. Through ROC analysis, an inter-fibre distance of 350 μm was identified as a measure that can better differentiate patients from controls.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Clinical Neurology
Nadine Egenolf, Caren Meyer zu Altenschildesche, Luisa Kress, Katja Eggermann, Barbara Namer, Franziska Gross, Alexander Klitsch, Tobias Malzacher, Daniel Kampik, Rayaz A. Malik, Ingo Kurth, Claudia Sommer, Nurcan Uceyler
Summary: This case-control study suggests that the diagnosis of small fiber neuropathy (SFN) in patients with pain of uncertain origin can be primarily based on the results of neurological examination and distal intraepidermal nerve fiber density (IENFD), with further detailed phenotyping recommended in specialized centers. Abnormal distal IENFD and neurological examination were the most common indicators of small fiber disease, with additional tests like corneal confocal microscopy (CCM) and pain-related evoked potentials (PREP) increasing the number of patients with small fiber impairment. Genetic testing revealed potentially pathogenic gene variants in a subset of the index patients.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2021)
Review
Clinical Neurology
Dev Nathani, Judith Spies, Michael H. Barnett, John Pollard, Min-Xia Wang, Claudia Sommer, Matthew C. Kiernan
Summary: Nerve biopsy is a crucial step in evaluating patients with neuropathic symptoms, but not all patients receive a definitive pathological diagnosis, highlighting the importance of appropriate patient selection and techniques. In addition to nerve biopsy, concurrent muscle and skin biopsies may enhance diagnostic yield in certain cases. Recent advancements in diagnostics, particularly in genomics, have influenced the changing indications for nerve biopsy.
Article
Clinical Neurology
Heidrun H. Kraemer, Patrick Buecker, Astrid Jeibmann, Henning Richter, Angela Rosenbohm, Johanna Jeske, Panoraia Baka, Christian Geber, Matthias Wassenberg, Tanja Fangerau, Uwe Karst, Anne Schaenzer, Christoph van Thriel
Summary: Small fiber neuropathy (SFN) affects nerve fibers causing neuropathic pain. The underlying cause of idiopathic SFN (iSFN) remains unknown in 30% of cases. This study investigated the prevalence of dermal gadolinium (Gd) deposits and their effects on nerve fiber density and clinical parameters in iSFN patients exposed to Gd-based contrast agents (GBCA).
JOURNAL OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Elena K. Enax-Krumova, Iris Dahlhaus, Jonas Goerlach, Kristl G. Claeys, Federica Montagnese, Llka Schneider, Dietrich Sturm, Tanja Fangerau, Hannah Schlierbach, Angela Roth, Julia V. Wanschitz, Wolfgang N. Loescher, Anne-Katrin Guettsches, Stefan Vielhaber, Rebecca Hasseli, Lea Zunk, Heidrun H. Kraemer, Andreas Hahn, Benedikt Schoser, Angela Rosenbohm, Anne Schaenzer
Summary: Pain is a common symptom in patients with late onset Pompe disease (LOPD), and the relationship between small nerve fiber involvement and pain needs further exploration.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Clinical Neurology
Andrea Maier, Romina Kapfenberger, Istvan Katona, Joachim Weis, Jorg B. Schulz, Roman Rolke
Summary: In this retrospective analysis of autoimmune autonomic neuropathy (AAN) patients, it was found that neuropathic pain was not as common as sensory loss. Sensory loss was widely distributed, mainly affecting cold and warm detection thresholds and the thermal sensory limen. Serostatus was not a significant predictor of small fiber deficit in AAN.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Eleonora Galosi, Pietro Falco, Giuseppe Di Pietro, Caterina Leone, Nicoletta Esposito, Gianfranco De Stefano, Giulia Di Stefano, Andrea Truini
Summary: This study tested the accuracy of the Small Fiber Neuropathy Symptoms Inventory Questionnaire (SFN-SIQ) in diagnosing pure SFN and found that it has good discriminative ability, making it useful for screening patients with suspected SFN and determining the need for further diagnostic tests.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2022)
Review
Clinical Neurology
Franco Gemignani, Maria F. Bellanova, Elena Saccani, Giovanni Pavesi
Summary: The clinical spectrum of NLD-SFN is varied and often atypical, with treatment primarily based on managing neuropathic pain. Research in the future is expected to clarify the interconnected aspects of phenotypic characterization, diagnostic criteria, and pathophysiology.
Article
Clinical Neurology
Marcela Camara Machado-Costa, Miguel Mitne-Neto, Luiza Helena Degani Costa, Luciana Moura Alves, Acary Souza Bulle Oliveira, Mayana Zatz, Helga Cristina Almeida Silva
Summary: This study compared the neurologic evaluation, electrophysiological study, and skin biopsy results of ALS8 and sALS patients. The findings suggest that ALS8 patients have similar sensory involvement and intraepidermal nerve fiber density as sALS patients.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Young Gi Min, Woohee Ju, Ye-Eun Ha, Jae-Jun Ban, Je-Young Shin, Sung-Min Kim, Yoon-Ho Hong, Sung-Hye Park, Jung-Joon Sung
Summary: This study investigated the value of skin biopsy in immune-mediated neuropathies. By staining and scanning the biopsy samples, the researchers classified patients into three groups based on the site of the autoimmune process. This study highlights the importance of skin biopsy as a diagnostic aid.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2022)
Article
Clinical Neurology
Vincenzo Provitera, Valeria Iodice, Fiore Manganelli, Stefania Mozzillo, Giuseppe Caporaso, Annamaria Stancanelli, Ilaria Borreca, Marcello Esposito, Raffaele Dubbioso, Rosa Iodice, Floriana Vitale, Shiwen Koay, Ekawat Vichayanrat, Fernanda Valerio, Lucio Santoro, Maria Nolano
Summary: This study aimed to evaluate the involvement of postganglionic sudomotor function in patients with newly diagnosed MSA-P and PD, in order to differentiate the two conditions in the early stage. Results showed that patients with MSA-P had lower sweating output and density of sudomotor fibers compared to PD patients, and these measures were correlated with nonmotor symptoms.
Article
Virology
Domenico Acanfora, Maria Nolano, Chiara Acanfora, Camillo Colella, Vincenzo Provitera, Giuseppe Caporaso, Gabriele Rosario Rodolico, Alessandro Santo Bortone, Gennaro Galasso, Gerardo Casucci
Summary: Long-COVID-19 patients may experience decreased heart rate variability and autonomic nervous system dysfunction, indicating persistent symptoms and risks. The procoagulative state and elevated myocardial strain may explain the impaired vagal activity in these patients.
Meeting Abstract
Clinical Neurology
Shiwen Koay, Vincenzo Provitera, Ekawat Vichayanrat, Giuseppe Caporaso, Fernanda Valerio da Silvia, Lucio Santoro, Fiore Manganelli, Maria Nolano, Valeria Iodice
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Endocrinology & Metabolism
Vittoria Cianci, Angelo Pascarella, Sara Gasparini, Vincenzo Donadio, Rocco Liguori, Alex Incensi, Carmelo Massimiliano Rao, Claudio Franzutti, Giuseppe Scappatura, Umberto Aguglia, Edoardo Ferlazzo
Summary: Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene, leading to alpha-galactosidase A deficiency. This article describes the clinical characteristics of a patient with late-onset Fabry disease carrying a previously unidentified GLA gene variant.
METABOLIC BRAIN DISEASE
(2022)
Article
Biochemistry & Molecular Biology
Stefano Tozza, Daniele Severi, Giovanni Palumbo, Vincenzo Provitera, Lucia Ruggiero, Raffaele Dubbioso, Rosa Iodice, Maria Nolano, Fiore Manganelli
Summary: This study evaluated the role of QST in the multidisciplinary evaluation of late onset carriers, showing that thermal QST can serve as an important tool in detecting nerve fiber dysfunction. The study found that conducting stimulation tests on the foot and/or leg can increase the chances of detecting abnormal results, while investigating the hand can provide useful information in monitoring disease progression.
Article
Neurosciences
R. Liguori, V. Donadio, Z. Wang, A. Incensi, G. Rizzo, E. Antelmi, F. Biscarini, F. Pizza, Wq Zou, G. Plazzi
Summary: This study compared the diagnostic accuracy of immunofluorescence (IF) and aSyn-seed amplification assay (aSyn-SAA) in detecting pathological alpha-syn in idiopathic REM sleep behavior disorder (iRBD). IF showed good accuracy (89%), while skin- and CSF-based aSyn-SAA had lower accuracy (70% and 69%, respectively). However, IF showed significant agreement with CSF aSyn-SAA. These findings support the use of skin biopsy and aSyn-SAA as diagnostic tools for synucleinopathy in iRBD.
NPJ PARKINSONS DISEASE
(2023)
Review
Biochemistry & Molecular Biology
Maria Pia Giannoccaro, Federico Verde, Luana Morelli, Giovanni Rizzo, Fortuna Ricciardiello, Rocco Liguori
Summary: Autoimmune encephalitis and neurodegenerative disorders share clinical features and antibodies against neuronal proteins may occur in both types of diseases. This article reviews the link between these antibodies and neurodegeneration, exploring the possibility of autoimmune encephalitis presenting as a neurodegenerative disease and the role of antibodies in the disease course. The long-term cognitive and neuroradiological changes associated with autoimmune encephalitis are also discussed, along with potential biomarkers for predicting cognitive outcome.
Article
Biology
Giulia Gianferrari, Ilaria Martinelli, Cecilia Simonini, Elisabetta Zucchi, Nicola Fini, Maria Caputo, Andrea Ghezzi, Annalisa Gessani, Elena Canali, Mario Casmiro, Patrizia De Massis, Marco Curro' Dossi, Silvia De Pasqua, Rocco Liguori, Marco Longoni, Doriana Medici, Simonetta Morresi, Alberto Patuelli, Maura Pugliatti, Mario Santangelo, Elisabetta Sette, Filippo Stragliati, Emilio Terlizzi, Veria Vacchiano, Lucia Zinno, Salvatore Ferro, Amedeo Amedei, Tommaso Filippini, Marco Vinceti, Jessica Mandrioli
Summary: This study analyzed the clinical and genetic features of elderly ALS patients (>80 years old). The results showed that they had worse clinical conditions, shorter survival time, and fewer genetic analyses. Therefore, multidisciplinary management should be more extensively applied to this fragile group of patients.
Article
Clinical Neurology
Sebastiano Giacomozzi, Valentina Barone, Elena Merli, Sara Contardi, Fortuna Ricciardiello, Maria Pia Giannoccaro, Rocco Liguori, Andrea Zini
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Matteo Tagliapietra, Alex Incensi, Moreno Ferrarini, Nazarena Mesiano, Alessandro Furia, Giovanni Rizzo, Rocco Liguori, Tiziana Cavallaro, Salvatore Monaco, Gian Maria Fabrizi, Vincenzo Donadio
Summary: Small fiber neuropathy is a common manifestation in RFC1 disease, with severe and widespread somatic denervation observed. Skin denervation may be an early feature of this disorder.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Andrea Mastrangelo, Veria Vacchiano, Corrado Zenesini, Edoardo Ruggeri, Simone Baiardi, Arianna Cherici, Patrizia Avoni, Barbara Polischi, Francesca Santoro, Sabina Capellari, Rocco Liguori, Piero Parchi
Summary: Recent studies have shown that ALS patients have higher levels of plasma GFAP compared to controls, and this marker is associated with cognitive decline. Plasma GFAP is an accurate biomarker for identifying Alzheimer's disease co-pathology in ALS, which can influence the cognitive phenotype.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Lisa Taruffi, Lorenzo Muccioli, Micaela Mitolo, Lorenzo Ferri, Carlo Descovich, Stefania Mazzoni, Roberto Michelucci, Raffaele Lodi, Rocco Liguori, Pietro Cortelli, Caterina Tonon, Francesca Bisulli
Summary: This study retrospectively observed the neurological manifestations of long COVID. The results showed that most patients had mild COVID-19 symptoms during the acute phase, and the neurological symptoms persisted afterwards. The most common neurological symptoms include fatigue, cognitive disorders, and olfactory dysfunction. These findings suggest the need for further research on therapeutic strategies.
NEUROPSYCHIATRIC DISEASE AND TREATMENT
(2023)
Meeting Abstract
Clinical Neurology
S. Koay, V. Provitera, E. Vichayanrat, G. Caporaso, F. Valerio, U. Thieme, A. Stancanelli, I. Borreca, L. Santoro, F. Manganelli, M. Nolano, V. Iodice
EUROPEAN JOURNAL OF NEUROLOGY
(2022)