المؤلفون: Giovanni Rizzo, Vincenzo Donadio, Cesa Scaglione, Sabina Capellari, Alex Incensi, E. Fileccia, Rocco Liguori, Patrizia Avoni

المساهمون: Donadio, Vincenzo, Incensi, Alex, Rizzo, Giovanni, Scaglione, Cesa, Capellari, Sabina, Fileccia, Enrico, Avoni, Patrizia, Liguori, Rocco

المصدر: Journal of Neuropathology & Experimental Neurology. 76:384-389

مصطلحات موضوعية: Male, 0301 basic medicine, Topography, Pathology, medicine.medical_specialty, Thoracic spine, Biopsy, Disease, Motor symptoms, Functional Laterality, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Phosphorylated α-synuclein, Skin biopsy, medicine, Humans, Phosphorylation, Aged, Skin, Aged, 80 and over, Dopamine Plasma Membrane Transport Proteins, Movement Disorders, medicine.diagnostic_test, business.industry, Parkinson Disease, General Medicine, Middle Aged, Neostriatum, Substantia Nigra, Spine (zoology), 030104 developmental biology, Neurology, Positron-Emission Tomography, alpha-Synuclein, Biomarker (medicine), Female, α synuclein, Neurology (clinical), Topographical distribution, Diagnostic test assessment, business, Idiopathic Parkinson disease, Biomarkers, 030217 neurology & neurosurgery

الوصف: Phosphorylated α-synuclein (p-syn) in skin nerves mainly in the proximal sites is a promising neurodegenerative biomarker for idiopathic Parkinson disease (IPD). However, the p-syn spine distribution particularly in patients with unilateral motor dysfunctions remains undefined. This study aimed to investigate in IPD p-syn differences between left and right cervical spine sites in patients with prevalent unilateral motor symptoms, and cervical and thoracic spine sites in patients with bilateral motor symptoms. We enrolled 28 IPD patients fulfilling clinical diagnostic criteria associated with abnormal nigro-striatal DatScan and cardiac MIBG: 15 with prevalently unilateral motor symptoms demonstrated by DatScan; 13 with bilateral motor symptoms and DatScan abnormalities. Patients underwent skin biopsy searching for intraneural p-syn deposits: skin samples were taken from C7 paravertebral left and right sites in unilateral patients and from cervical (C7) and thoracic (Th12) paravertebral spine regions in bilateral patients. Unilateral patients displayed 20% of abnormal p-syn deposits in the affected motor site, 60% in both sites and 20% only in the non-affected site. P-syn was found in all patients in C7 but in only 62% of patients in Th12. Our data showed that cervical p-syn deposits displayed a uniform distribution between both sides not following the motor dysfunction in unilateral patients, and skin nerve p-syn deposits demonstrated a spine gradient with the cervical site expressing the highest positivity.

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c876dca17abe8c1ad44ffd876320e2d7Test
https://doi.org/10.1093/jnen/nlx021Test

المؤلفون: Vincenzo Donadio, Roberto D'Angelo, Rocco Liguori, Maria Pia Giannoccaro, Alex Incensi, Rita Rinaldi, E. Fileccia

المساهمون: Fileccia, E, Rinaldi, R., Liguori, R., Incensi, A., D’Angelo, R., Giannoccaro, Mp., Donadio, V.

المصدر: Clinical Autonomic Research. 27:51-55

مصطلحات موضوعية: Male, medicine.medical_specialty, Neurology, Anti-GAD antibodie, Glutamate decarboxylase, Neural Conduction, Gastroenterology, Endocrine and Autonomic System, Autonomic neuropathy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Diabetes mellitus, Skin biopsy, Humans, Medicine, Autoantibodies, medicine.diagnostic_test, Glutamate Decarboxylase, Endocrine and Autonomic Systems, business.industry, Middle Aged, Anti-glutamic acid decarboxylase antibodie, medicine.disease, Pathophysiology, Post-ganglionic autonomic neuropathy, Autonomic nervous system, Endocrinology, Peripheral neuropathy, Autonomic Nervous System Diseases, 030220 oncology & carcinogenesis, Autonomic Fibers, Postganglionic, Cholinergic, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصف: Purpose: Antibodies to glutamic acid decarboxylase (GAD-Abs) have been associated with several conditions, rarely involving the autonomic nervous system. Here, we describe two patients complaining of autonomic symptoms in whom a post-ganglionic autonomic neuropathy has been demonstrated in association with significantly elevated serum and CSF GAD-Abs levels. Methods: Patients underwent nerve conduction studies, sympathetic skin response testing, evaluation of autonomic control of the cardiovascular system and skin biopsy. Also, serum screening to exclude predisposing causes of peripheral neuropathy was performed. Anti-GAD65 antibodies were evaluated in serum and CSF. Results: GAD-Abs titer was increased in both serum and CSF in both patients. Sympathetic skin response was absent and skin biopsy revealed a non-length-dependent small-fiber neuropathy with sympathetic cholinergic and adrenergic post-ganglionic damage in both patients. Nerve conduction studies and evaluation of autonomic control of the cardiovascular system were normal in both patients. Both patients were treated with steroids with good, but partial, (patient 2) recovery of the autonomic dysfunctions. Conclusions: Although the pathophysiological mechanisms involved are not fully defined, GAD-abs positivity in serum and CSF should be searched in patients with autonomic neuropathy when no other acquired causes are evident. This positivity may help to clarify autoimmune etiology and, subsequently, to consider immunomodulatory treatment.

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4011173b15ee8e556f272cb45844eb83Test
https://doi.org/10.1007/s10286-016-0390-6Test

المؤلفون: Elena Pasini, Rocco Liguori, Patrizia Avoni, Vincenzo Donadio, Veria Vacchiano

المساهمون: Vacchiano, Veria, Liguori, Rocco, Pasini, Elena, Avoni, Patrizia, Donadio, Vincenzo

المصدر: Annals of Allergy, Asthma & Immunology. 120:433-435

مصطلحات موضوعية: Male, Risk, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Injections, Subcutaneous, Immunology, subcutaneous immunoglobulin treatment (SCIg), Immunoglobulins, Chronic inflammatory demyelinating polyneuropathy, Normal values, Subcutaneous immunoglobulin, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Thromboembolism, Internal medicine, medicine, Humans, Immunology and Allergy, 030212 general & internal medicine, Aged, Thrombotic risk, biology, business.industry, medicine.disease, Thromboembolic risk, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, biology.protein, chronic inflammatory demyelinating polyneuropathy (CIDP), intravenous immunoglobulin treatment (IVIg), Antibody, business, 030217 neurology & neurosurgery, thrombotic risk

الوصف: n.a.

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98cec9ec8319ec92e0e96ccbc5b8c182Test
https://doi.org/10.1016/j.anai.2018.01.013Test

المؤلفون: Giovanni Rizzo, Rossella Infante, Vincenzo Donadio, Rocco Liguori, Cesa Scaglione, Alex Incensi

المساهمون: Infante R., Scaglione C., Incensi A., Rizzo G., Liguori R., Donadio V.

المصدر: Journal of neuropathology and experimental neurology. 79(7)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Biopsy, Longitudinal Studie, Disease, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Orthostatic vital signs, Hypotension, Orthostatic, 0302 clinical medicine, Dermis, A-Synuclein, Skin biopsy, Medicine, Humans, Longitudinal Studies, Phosphorylation, Pathological, 030304 developmental biology, Aged, Skin, Alpha-synuclein, Synucleinopathies, 0303 health sciences, Orthostatic hypotension, medicine.diagnostic_test, business.industry, Parkinson Disease, Multiple system atrophy, General Medicine, nervous system diseases, Autonomic nervous system, medicine.anatomical_structure, Neurology, chemistry, alpha-Synuclein, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Human

الوصف: The aim of our study was to assess the distribution of phosphorylated α-synuclein (p-syn) deposits in a patient affected by early stage Parkinson disease and orthostatic hypotension through a longitudinal skin biopsy study. We found widespread p-syn spatial diffusion from deep autonomic dermis nerve bundles to autonomic terminals, suggesting a centrifugal spread of p-syn from ganglia to the innervation target structures. Furthermore, the case suggests the possibility of discriminating synucleinopathies at an early stage of disease by means of skin biopsy. If confirmed, these data support skin biopsy as a useful and promising tool for the diagnosis, longitudinal evaluation, and pathological understanding of Parkinson disease.

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608adfcc467b31de702cf4f38bfbf318Test
https://pubmed.ncbi.nlm.nih.gov/32529258Test

المؤلفون: Matteo Foschi, Veria Vacchiano, Patrizia Avoni, Alex Incensi, Stella Battaglia, Vincenzo Donadio, Elena Panzeri, Maria Teresa Bassi, Rocco Liguori, Giovanni Rizzo

المساهمون: Foschi, Matteo, Vacchiano, Veria, Avoni, Patrizia, Incensi, Alex, Battaglia, Stella, Donadio, Vincenzo, Panzeri, Elena, Bassi, Maria Teresa, Liguori, Rocco, Rizzo, Giovanni

المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, adrenomyelopathy, small fiber neuropathy, Case Report, lcsh:RC346-429, 03 medical and health sciences, Myelopathy, 0302 clinical medicine, medicine, 030212 general & internal medicine, Adrenocortical Insufficiency, brain development defects, skin biopsy, lcsh:Neurology. Diseases of the nervous system, Subclinical infection, medicine.diagnostic_test, adrenoleukodystrophy, business.industry, Genetic disorder, ABCD1, brain development defect, MRI, very long chain fatty acids, medicine.disease, Neurology, Skin biopsy, Nerve conduction study, Adrenoleukodystrophy, Neurology (clinical), business, Asymptomatic carrier, 030217 neurology & neurosurgery

الوصف: X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: asymptomatic carriers, Addison only, cerebral x-ALD, and myelopathy with/without evidence of peripheral axonopathy (Adrenomyeloneuropathy). We report on two cases of adult x-ALD, with atypical phenotypes: (Case 1) A 37-years-old male with a 2-years-long history of spastic paraparesis, urinary urgency, and subclinical adrenocortical insufficiency. As an atypical finding, the MRI showed multiple congenital brain development defects. (Case 2) A 63-years-old male with a previous diagnosis of Addison disease, with a 6-years-long history of spastic paraparesis. Two years later, he complained of severe and disabling burning pain in his feet. A nerve conduction study was normal, but a skin biopsy revealed autonomic and somatic small fiber neuropathy. In both cases, genetic testing disclosed hemizygous mutation in ABCD1 associated with x-ALD: c.1394-2A > G and p.(Thr254Met), respectively. While case 1 supports the key role of peroxisome functions in brain development, case 2 points to a possible selective and clinically relevant peripheral small fiber degeneration in x-ALD myelopathy.

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3bfa7d7e4cd0113ac21780491dffa6Test
http://hdl.handle.net/11585/687043Test

المؤلفون: Giuseppe Plazzi, Claudia Sommer, Geert Mayer, W. H. Oertel, Annette Janzen, Kathrin Doppler, Vincenzo Donadio, Alex Incensi, Jens Volkmann, Rocco Liguori, Elena Antelmi, Anastasia Kuzkina, Giovanni Rizzo

المساهمون: Donadio, V, Doppler, K, Incensi, A, Kuzkina, A, Janzen, A, Mayer, G, Volkmann, J, Rizzo, G, Antelmi, E, Plazzi, G, Sommer, C, Liguori, R, Oertel, W H

مصطلحات موضوعية: Male, Pathology, Biopsy, animal diseases, multiple system atrophy, REM Sleep Behavior Disorder, Thigh, environment and public health, RBD, 0302 clinical medicine, 030212 general & internal medicine, Phosphorylation, Skin, Aged, 80 and over, medicine.diagnostic_test, Middle Aged, Immunohistochemistry, REM sleep behaviour disorder, Parkinson disease, medicine.anatomical_structure, Neurology, skin biopsy, α-synuclein deposits, alpha-Synuclein, Female, Adult, medicine.medical_specialty, Concordance, 03 medical and health sciences, Atrophy, MSA, medicine, Humans, Peripheral Nerves, Aged, Synucleinopathies, Reproducibility, Dementia with Lewy bodies, business.industry, Reproducibility of Results, medicine.disease, nervous system diseases, nervous system, Skin biopsy, α synuclein, Neurology (clinical), Nervous System Diseases, business, 030217 neurology & neurosurgery

الوصف: BACKGROUND AND PURPOSE Visualization of phosphorylated α-synuclein at serine 129 (p-syn) in skin nerves is a promising test for the in vivo diagnosis of synucleinopathies. Here the aim was to establish the intra- and inter-laboratory reproducibility of measurement of intraneural p-syn immunoreactivity in two laboratories with major expertise (Wurzburg and Bologna). METHODS In total, 43 patients affected by Parkinson's disease (PD 21 patients), dementia with Lewy bodies (DLB 1), rapid eye movement sleep behaviour disorder (RBD 11), multiple system atrophy (MSA-P 4) and small fibre neuropathy (SFN 6) were enrolled. Skin biopsy was performed at the C7 paravertebral spine region and distal skin sites (thigh or leg). The analysis was standardized in both laboratories and carried out blinded on a single skin section double stained with antibodies to p-syn and the pan-axonal marker protein gene product 9.5. Fifty skin sections were randomly selected for the analysis: 25 from C7 and 25 from distal sites. Differently classified sections were re-evaluated to understand the reasons for the discrepancy. RESULTS The intra-laboratory analysis showed an excellent reproducibility both in Wurzburg (concordance of classification 100% of sections; K = 1; P

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f2dde384848e8ebdeb120b67a3e1eeTest
http://hdl.handle.net/11562/1008802Test

المؤلفون: Monica Moresco, Marco Filardi, Fabio Pizza, Vincenzo Donadio, Rocco Liguori, Luigi Ferini-Strambi, Alex Incensi, Stefano Vandi, Giuseppe Plazzi, Yuri L Sosero, Elena Antelmi, Sara Marelli, Raffaele Ferri

المساهمون: Antelmi, E., Pizza, F., Donadio, V., Filardi, M., Sosero, Y. L., Incensi, A., Vandi, S., Moresco, M., Ferri, R., Marelli, S., Ferini-Strambi, L., Liguori, R., Plazzi, G., Antelmi, Elena, Pizza, Fabio, Donadio, Vincenzo, Filardi, Marco, Sosero, Yuri L, Incensi, Alex, Vandi, Stefano, Moresco, Monica, Ferri, Raffaele, Marelli, Sara, Ferini-Strambi, Luigi, Liguori, Rocco, Plazzi, Giuseppe

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1872-1876 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Biopsy, Polysomnography, REM sleep behavior disorder, Neurosciences. Biological psychiatry. Neuropsychiatry, narcolepsy, REM Sleep Behavior Disorder, Brief Communication, Gastroenterology, RBD, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, biomarkers, RC346-429, Pathological, Aged, Skin, medicine.diagnostic_test, business.industry, General Neuroscience, NARCOLEPSY, Middle Aged, medicine.disease, Pathophysiology, 030104 developmental biology, BIOMARKERS, REM SLEEP BEHAVIOR DISORDER, Skin biopsy, Sleep behavior, alpha-Synuclein, Female, Neurology. Diseases of the nervous system, Neurology (clinical), Corrigendum, business, Brief Communications, 030217 neurology & neurosurgery, Biomarkers, RC321-571, Narcolepsy

الوصف: To search for discriminating biomarkers, 30 patients with idiopathic rapid‐eye‐movements sleep behavior disorder (iRBD) were compared with 17 patients with RBD within narcolepsy type 1. Both groups underwent extensive examinations, including skin biopsy searching for phosphorylated α‐synuclein deposits and whole‐night video‐polysomnography. Skin biopsy was positive for phosphorylated α‐synuclein deposits in 86.7% of iRBD patients and in none of narcoleptic patients. The analysis of video‐polysomnographic motor events showed differences in their occurrence throughout the night in the two groups. iRBD and RBD due to narcolepsy do have different clinical and pathological findings, confirming a different pathophysiology.

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::995c02c1f54ecd31ea3b74d1399633e1Test
http://hdl.handle.net/11562/1008479Test

المؤلفون: Giovanni Rizzo, M. Stanzani Maserati, Cesa Scaglione, Sabina Capellari, Omar M. A. El-Agnaf, Rocco Liguori, Alex Incensi, Roberta Pantieri, F. Del Sorbo, Nishant N. Vaikath, Antonio E. Elia, Vincenzo Donadio

المساهمون: Donadio, V., Incensi, A., El-Agnaf, O., Rizzo, G., Vaikath, N., Del Sorbo, F., Scaglione, C., Capellari, S., Elia, A., Stanzani Maserati, M., Pantieri, R., Liguori, R.

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, animal diseases, lcsh:Medicine, environment and public health, Epitope, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Atrophy, In vivo, Medicine, heterocyclic compounds, lcsh:Science, Pure autonomic failure, Synucleinopathies, Multidisciplinary, biology, business.industry, Dementia with Lewy bodies, lcsh:R, medicine.disease, nervous system diseases, 030104 developmental biology, nervous system, biology.protein, lcsh:Q, synucleinopathy, Antibody, business, 030217 neurology & neurosurgery

الوصف: We aimed to characterize in vivo α-synuclein (α-syn) aggregates in skin nerves to ascertain: 1) the optimal marker to identify them; 2) possible differences between synucleinopathies that may justify the clinical variability. We studied multiple skin nerve α-syn deposits in 44 patients with synucleinopathy: 15 idiopathic Parkinson’s disease (IPD), 12 dementia with Lewy Bodies (DLB), 5 pure autonomic failure (PAF) and 12 multiple system atrophy (MSA). Ten healthy subjects were used as controls. Antibodies against native α-syn, C-terminal α-syn epitopes such as phosphorylation at serine 129 (p-syn) and to conformation-specific for α-syn mature amyloid fibrils (syn-F1) were used. We found that p-syn showed the highest sensitivity and specificity in disclosing skin α-syn deposits. In MSA abnormal deposits were only found in somatic fibers mainly at distal sites differently from PAF, IPD and DLB displaying α-syn deposits in autonomic fibers mainly at proximal sites. PAF and DLB showed the highest p-syn load with a widespread involvement of autonomic skin nerve fibers. In conclusion: 1) p-syn in skin nerves was the optimal marker for the in vivo diagnosis of synucleinopathies; 2) the localization and load differences of aggregates may help to identify specific diagnostic traits and support a different pathogenesis among synucleinopathies.

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f942842b740910d6d9eb2336bc71c79Test
https://doi.org/10.1038/s41598-018-32588-8Test

المؤلفون: Vincenzo Donadio

المصدر: Clinical autonomic research : official journal of the Clinical Autonomic Research Society. 29(6)

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Neurology, Parkinson's disease, Synucleinopathies, Biopsy, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Autonomic Pathways, Pure autonomic failure, Skin, medicine.diagnostic_test, Endocrine and Autonomic Systems, business.industry, Dementia with Lewy bodies, Parkinson Disease, medicine.disease, Skin biopsy, Autonomic symptoms, α synuclein, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصف: The in vivo diagnosis of synucleinopathies is an important research aim since clinical diagnostic criteria show low accuracy. The skin innervation, especially the autonomic subdivision, is a useful region to search for abnormal α-syn aggregates in synucleinopathies since the peripheral sympathetic nerves can be the earliest-affected neural region and autonomic symptoms may precede the classical symptoms of these disorders. The major advantages of skin biopsy as an in vivo diagnostic tool for synucleinopathies are that it is an inexpensive and easy-to-perform technique requiring only limited facilities, and that it is repeatable in long-term studies as it causes only minor discomfort to the patient. This review analyzes current progress in this area of research that may facilitate the standardization of this method, potentially eliminating differences among laboratories in the implementation of the method. The most suitable and commonly used technique for identifying in vivo α-syn aggregates in skin nerves is indirect immunofluorescence, although several aspects of this approach need to be standardized, particularly when synucleinopathies without autonomic failure present a patchy distribution of abnormal α-syn aggregates in skin nerves. By contrast, synucleinopathies with autonomic failure may present widespread diffusion of abnormal aggregates in autonomic skin nerves.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b096f847d1c1d1ec2ad52cba514e39Test
https://pubmed.ncbi.nlm.nih.gov/30721384Test

المؤلفون: Juan Politei, Marco Caprini, Giovanni Dothel, Vincenzo Donadio, Martina Masotti, Roberto Rimondini, Rocco Liguori, Cecilia Delprete

المساهمون: Masotti, Martina, Delprete, Cecilia, Dothel, Giovanni, Donadio, Vincenzo, Rimondini, Roberto, Politei, Juan Manuel, Liguori, Rocco, Caprini, Marco

المصدر: Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society. 31(3)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Physiology, Colon, Globotriaosylceramide, Myenteric Plexus, Disease, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Nerve Fibers, enteropathic pain, α-Gal A null mice, Medicine, Animals, Myenteric plexus, Gastrointestinal wall, Mice, Knockout, Endocrine and Autonomic Systems, business.industry, Trihexosylceramides, Gastroenterology, medicine.disease, Fabry disease, gastrointestinal, Pathophysiology, 030104 developmental biology, medicine.anatomical_structure, chemistry, alpha-Galactosidase, Knockout mouse, neuronal fiber density, Cytokines, Fabry Disease, Female, Fiber density, business, Ubiquitin Thiolesterase, 030217 neurology & neurosurgery

الوصف: Background Fabry disease (FD) is a hereditary X-linked metabolic storage disorder characterized by deficient or absent lysosomal α-galactosidase A (α-Gal A) activity. This deficiency causes progressive accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3), in nearly all organ systems. Gastrointestinal (GI) symptoms can be very debilitating and are among the most frequent and earliest of the disease. As the pathophysiology of these symptoms is poorly understood, we carried out a morphological and molecular characterization of the GI tract in α-Gal A knockout mice colon in order to reveal the underlying mechanisms. Methods Here, we performed the first morphological and biomolecular characterization of the colon wall structure in the GI tract of the α-Gal A knock-out mouse (α-Gal A -/0), a murine model of FD. Key results Our data show a greater thickness of the gastrointestinal wall in α-Gal A (-/0) mice due to enlarged myenteric plexus' ganglia. This change is paralleled by a marked Gb3 accumulation in the gastrointestinal wall and a decreased and scattered pattern of mucosal nerve fibers. Conclusions and inferences The observed alterations are likely to be a leading cause of gut motor dysfunctions experienced by FD patients and imply that the α-Gal A (-/0) male mouse represents a reliable model for translational studies on enteropathic pain and GI symptoms in FD.

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f259122e8d4f5f2337c49867c70a8bTest
https://pubmed.ncbi.nlm.nih.gov/30609268Test