In addition to clinical and educational activity, The Department of neuromuscular diseases and spinal cord diseases is also engaged in intensive scientific research activities. The research is predominantly focused on the fields of neuroimmunology, electrophysiology and neuroepidemiology of the neuromuscular diseases. The most intensive research activities are performed in the field of investigation of muscle dystrophies, familial forms of amyotrophic lateral sclerosis (ALT) and hereditary neuropathies, along with genetic counseling of the affected patients and their family members. The following important research segment is the field of neuroimmunology that included determination of antiglycolipid  and antiglycoprotein antibodies in the blood and cerebrospinal fluid of patients with the acquired immune-mediated neuropathies and detection of antineuronal antibodies in patients with different paraneoplastic syndrome. Additionally, within the mandatory screening of patients with myasthenia gravis, determination of different serum autoantibodies in also planned  (anti-AChR, anti-MuSK, anti-titin and anti-ryanodine antibodies). As for the field of electrophysiology the investigations are based on the methods of early detection of initial forms of polyneuropathies in cases in which conventional electromyoneurography results are within normal range, as well as on defining of electrophysiological profile of certain subpopulations of patients with myasthenia gravis. In accordance with contemporary approach to patient treatment, in addition to usual neuroepidemiological research methods, the particular attention is also paid to motor neuron diseases. Over the last several years, a part of our research activities is related to investigation of the autonomous nervous system function and cognitive disorders in patients with myotonic dystrophy and motor neuron disease, as well as to analysis of different laboratory parameters (insulin resistance, leptin serum level, tau protein and beta-amyloid in CSF) in patients suffering from myotonic dystrophy and analysis of tau protein and beta-amyloid in CSF of ALS patients.

Cooperation in the field of research has been established not only with other research institutions in the country but also with international institutions (Italy, Germany, Sweden, Netherlands, England and Macedonia). The results of the research studies carried so far have been presented at a large number of professional meetings held in the country and abroad and published in numerous national and international scientific journals. The researchers from the Department have contributed significantly to a number of multicenter clinical trials.

IMMUNOLOGICAL LABORATORY FOR PERIPHERAL NERVOUS SYSTEM DISEASES

A laboratory dealing with diagnosis and investigation of the acquired, immune-mediated neuropathies, paraneoplastic syndromes and myasthenia gravis has been operating within the Department of Neuromuscular Diseases since 2008.

The laboratory performs the following analyses:

• determination of antiglycolipid (GM1, GD1a, GD1b and sulfatides) antibodies using  ELISA method in serum and CSF of patients with acquired, inflammatory neuropathies.
• detection of serum and CSF antibodies to protein and glycoprotein antigens of myeline and axons of the central and peripheral nervous system using IMMUNOBLOT method.  The method is intended to be used for detection of anti-MAG antibodies in patients with polyneuropathy associated with monoclonal gammopathy and different hematological diseases.