Imaging biomarkers as outcome measures for hereditary and acquired neuromuscular diseases

The generic term biomarkers applies to all detection methods used in the life sciences and may be defined as any detectable biologic parameter, whether biochemical, genetic, histologic, anatomic, physical, functional, or metabolic. By logical extension, we define imaging biomarkers as any anatomic, physiologic, biochemical, or molecular parameter detectable with one or more diagnostic imaging tools for establishing the presence and/or severity of disease. The importance of medical imaging for clinical decision making has been steadily increasing over the last four decades. Recently, there has also been an emphasis on medical imaging for preclinical decision making, i.e., for use in pharamaceutical and medical device development. There is also a drive towards quantification of imaging findings by using quantitative imaging biomarkers, which can improve sensitivity, specificity, accuracy and reproducibility of imaged characteristics used for diagnostic and therapeutic decisions. During the three-years Phd project, in collaboration with the Radiology Department of Poliliclinico San Martino/ Dipartimento di Scienze della Salute, the Neurology Unit of Policlinico San Martino / Dipartimento di Scienza della Salute and the Anatomy Departement of University of Barcelona/Campus Bellvitge, the clinical applications of new or recently developed imaging biomarkers based on High Resolution Ultrasound (HRUS) a Magnetic Resonance (MR) in the field of neuromuscular diseases have been indagated. The recent advancements in Ultrasound technology enabled a high resolution and Ultra-High resolution imaging of peripheral nerves. In this regard, the fascicular imaging application in the diagnosis of posterior interosseous nerve and the motor branch of median nerve have been subject of two clinical study. The availability of a 7 tesla MR in the Animal facility of Policlinico San Martino allowed an high-tech study on a murin model of Charcot-Marie-Tooth neuropathy 1B, providing new insight into the pathogenesis of this condition. Regarding the myopathies, a specific focus was sarcopenia and the Ultrasound-derived quantitative and semiquantitative parameters to identify this common condition, to stratify the disease severity and to facilitate the patient monitoring overtime.