The Complex Unit of the Neurological Clinic and Neurometabolic Diseases, belonging to the Department of Neurological and Motor Sciences of the Siena University Hospital, carries out clinical and laboratory activities in the field of neurodegenerative, neurogenetic and neurometabolic diseases, including morphological, immunohistochemical and ultrastructural analysis of muscle and nerve and genetic analysis of numerous hereditary neurological diseases (muscular dystrophies, congenital myopathies, mitochondrial myopathies, leukodystrophies and vascular leukoencephalopathies). It is also a regional reference center for Rare Neurological Diseases and member of three "European Reference Networks" (ERN) for rare diseases: - rare neurodegenerative diseases (ERN-RND), - neuromuscular diseases (ERN- NMD) and metabolic diseases (ERN-Metab).
Profile of staff engaged in the project
Alessandro Malandrini He currently holds the position of Associate Professor at the Department of Medicine, Surgery and Neuroscience at the University of Siena. He is in charge of the Neuropathology Laboratory where histological, immunohistochemical and ultrastructural analysis of peripheral nerve and muscle biopsies are performed. Prof Malandrini also runs a General Neurology and Neuromuscular Diseases clinic. From a scientific point of view he has always studied rare neurogenetic diseases and, in particular, neuromuscular diseases.
Andrea Mignarri Surgeon, specialist in Neurology, PhD in Neuroscience. He currently works as a 1st level Medical Director at the Complex Unit of Neurological Clinic and Neurometabolic Diseases for the Siena University Hospital particularly dealing with Rare Neurological Diseases, Neurodegenerative Diseases, Parkinson's Disease, Electromyography. He has experience in the neurological clinical field (with particular reference to rare neurogenetic and neurometabolic diseases, neuromuscular diseases, movement disorders and neurodegenerative diseases), instrumental diagnostics (with particular reference to electromyography) and research in the same areas of his clinical expertise. Author of 55 publications in peer-reviewed international journals and 58 papers (oral communications and posters) at congresses in the neurological field. Reviewer of scientific articles in international neurological journals.
Diego Lopergolo Born in Rome in 1986, he graduated in 2013 in Medicine at the “Sapienza” University of Rome. From 2011 to 2012 he attended the Saint Luc University Clinic (Université Catholique de Louvain, Brussels) at the Neurology Service. From 2010 to 2015, he attended the Motor and EMG Rehabilitation Unit of the Neurology and Psychiatry Department of the "Sapienza" University of Rome carrying out clinical and research activities in the field of amyotrophic lateral sclerosis, rare neuromuscular diseases, peripheral neuropathies and myasthenia gravis. From 2016 to 2020, he attended the School of Specialization in Medical Genetics of the University of Siena during which he followed the dedicated clinic for rare neuromuscular diseases, acquired clinical and research experience mainly in hereditary neuromuscular, neurodegenerative and neurodevelopmental disorders and in the analysis of next generation sequencing data. Since 2020, he has been attending the Tuscan PhD School of Neuroscience at the University of Siena. He has participated since 2012 in national and international congresses of neurological and genetic relevance. He is the author of publications in peer reviewed scientific journals in the prevalent neurological and neurodevelopmental field.
Gianna Berti Born in Siena on May 20, 1962. Degree in Biological Sciences. In service at the Research Sector of the Department of Medical, Surgical and Neuroscience University of Siena. Open-Term Technical Administrative Staff member, grade D (D1) in the Technical, Technical-Scientific and Data Processing Area. She works as a biologist dealing with research and diagnostics for genetic neuro-brain-myopathies and degenerative diseases of the central and peripheral nervous system. As head of the Ultrastructural, Histochemistry and Immunohistochemistry section of the Neuropathology laboratory, she coordinates the structure to make it more functional with the use of new, constantly evolving tools.
Giovanni Serni Master's Degree in Healthcare Professions and Diagnostic Techniques. Since 1990, he is in service in various laboratories of Clinical Pathology and Bacteriology. Since 2001, he is in permanent service at the University of Siena in the laboratory of Neuropathology of the Unit of Neurometabolic Diseases of the Siena University Hospital. He holds a C6 qualification as Technical, Technical-Scientific and Data Processing Area of the technical administrative staff, affiliated as a Biomedical Laboratory Technician with D3 qualification. He collaborates with research groups for Neuromuscular Diseases in the fields of neurobiochemistry, neurogenetics, neuropathology for the diagnosis of Genetic Neuro-Brain-Myopathies and degenerative diseases of the Central and Peripheral Nervous System.
Nila Volpi Confirmed Researcher of Human Anatomy (BIO/16) at the Department of Medical, Surgical and Neuroscience Sciences, University of Siena (Previous affiliation: Department of Biomedical Sciences). From a scientific point of view, she has always been involved in the clinical-pathological study in muscle and peripheral nervous system diseases with autoimmune or toxic genesis. In addition, Dr. Volpi deals with the morphological and immunocytochemical characterization in genetic diseases of the muscles and peripheral nerve.
Patrizia Formichi Graduated in biology, now serving in the Department of Medical, Surgical and Neuroscience Sciences of the University of Siena. She is employed as a Permanent Administrative Technician cat. D (D2). In agreement with the Siena University Hospital as a professional technical collaborator, she deals with the diagnostics of neurodegenerative diseases. From a scientific point of view, she deals with the study of apoptosis in rare neurogenetic diseases.