IN THE NATIONAL INSTITUTE OF PSYCHIATRY AND NEUROLOGY,
Clinic for Neurogenetical and Neuromuscular Diseases
Clinical Neurogenetics Laboratory
Muscle and Nerve Biopsy Center
The Neuromuscular Division has been established about 20 years ago and it draws patients from the central, western and southern part of the country. It has an active patient population of about 400 with an approximate weekly average new patient load of approximately 5. Here the neuromuscular team consists of 2 clinicians, 2 electrophysiologists, 2 neuropathologists and 1 molecular biologists. It maintains liaison with other neuromuscular units in Hungary and abroad. The Neurogenetics Division is the only one center in Hungary specializing on the inherited CNS, muscle and peripheral nerve diseases. This center serves the Hungarian population. The center was established for 2 years having now 2 MDs. The number of in- and outpatients in care is approximately 200.
This brand new laboratory started its activity in the summer 2002. The main profiles of the laboratory are molecular diagnosis of neuromuscular and cerebrovascular disorders. The following investigations have been developed.
Mitochondrial gene diagnostics (detection of mtDNA point mutations and deletions)
Duchenne and Becker muscular dystrophy, protein and gene diagnostics
Sarcoglycanopathies, protein diagnostics
Spinal muscular atrophy, gene diagnostics
ApoE screening, Leiden mutation screening
MTHFR mutation screening
CADASIL mutation screening
Non-radioactive and radioactive methods for amplification, detection and quantification of DNA and RNA fragments. Quantitative detection of proteins with Western blot.
The academic members of the staff. 1 MD, PhD and 1 PhD.
This division has been established cc. 25 years ago. During its activity the team has collected several thousand muscle and nerve biopsy specimens. This lab is the only muscle and nerve biopsy center in Budapest. It provides state of the art interpretation of histochemical, immunohistochemical and electron microscopic sections of muscle and nerve biopsies.
The members of the staff are 2 MD, PhDs.
Our neuromuscular and neurogenetic clinics follow state-of the art diagnostic and therapeutic practice and we constantly contribute to the scientific literature with new observations and new knowledge. These activities include scientific presentations at national and international meetings and Congresses as well as publications in international journals. Our scientific focus was on mitochondrial diseases and various forms of muscular dystrophy’s. In recent years our experimental work focused on the following topics.
Preimplantation diagnosis in miochondrial diseases
Dystrophic/utrophin gene transfer to muscle in genetic dystrophin deficiency models using electroporation for the gene transfer.
The role the investigation of therapeutic effect of proinflammatory cytokines in transient and prominent ischaemic cerebral events.
The morphological and genetic characterization of roma neuropathies (Lom and CCFDN)
Skeletal muscle abnormalities in patients with congenital club feet.
Molecular neurology at the OPNI is looking forward to a bright future. We plan to expand the horizons of our diagnostic and research profile and develop teaching activities for various types of students including postdoctoral fellows . We shall initiate a scientific seminar and journal club series, foster the visit of foreign scientists and will pursue a vigorous program of competing for peer-reviewed research grants.
Dr. Maria J. Molnar
Head of Dept. of Molecular Neurology
National Institute of Psychiatry and Neurology
Hüvösvölgyi Str. 116