Clinical and laboratory studies are conducted to determine etiology (infection, immunity and/or genetics) for chronic diseases of the peripheral and central nervous system). Current studies include amyotrophic lateral sclerosis, (ALS), polymyositis/dermatomyositis, demyelinating polyneuropathies, progressive multifocal leukoencephalopathy, and myasthenia gravis. Combined clinical data, genetic information, HLA and MLC typing and studies of virus serology and virus isolation are performed. The nature of oligoclonal bands found in the CSF of patients with chronic neurological diseases is under investigation. A neuromuscular disease that occurs in patients who have had poliomyelitis at an early age has been clinically defined; the possibility that this might be due to a late polio virus infection or an abnormal immunoregulation and an immune reaction to neuronal cells is under investigation. IgM monoclonal band has been identified in the spinal fluid of patients with paraproteinemic polyneuropathies and an abnormal blood-CSF was found. The pathogenetic mechanisms of patients with a chronic, sensory, """"""""ataxic"""""""" neuropathy were examined and the role of proprioceptive afferent inputs for their postural maintenance was investigated. The metabolic activity of the cortex in ALS patients is being studied using the PET scan and 18F 2-deoxy-D-glucose; hypometabolism was demonstrated not only in the motor but also in the paramotor and sensory cortex, suggesting that ALS is a rather generalized process affecting many cortical regions. The effect of aging on the neuromuscular systems is being investigated electrophysiologically and morphologically, in the muscle and nerve biopsies of normal elderly patients and patients with Alzheimer's disease. Muscle biopsies from patients with nephropathic cystinosis and renal Fanconi syndrome were studied morphologically and biochemically. Signs of a metabolic lipid storage myopathy due to carnitine deficiency were found; this prompted us to start a therapeutic study with carnitine replacement.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Intramural Research (Z01)
Project #
1Z01NS002038-13
Application #
4696806
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
13
Fiscal Year
1985
Total Cost
Indirect Cost
City
State
Country
United States
Zip Code
Dalakas, Marinos C; Rakocevic, Goran; Salajegheh, Mohammad et al. (2009) Placebo-controlled trial of rituximab in IgM anti-myelin-associated glycoprotein antibody demyelinating neuropathy. Ann Neurol 65:286-93
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Goudeau, Bertrand; Rodrigues-Lima, Fernando; Fischer, Dirk et al. (2006) Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Hum Mutat 27:906-13
Dalakas, Marinos C (2006) Therapeutic targets in patients with inflammatory myopathies: present approaches and a look to the future. Neuromuscul Disord 16:223-36
Dalakas, Marinos C (2006) The role of high-dose immune globulin intravenous in the treatment of dermatomyositis. Int Immunopharmacol 6:550-6
Briani, C; Doria, A; Sarzi-Puttini, P et al. (2006) Update on idiopathic inflammatory myopathies. Autoimmunity 39:161-70
Vasconcelos Jr, Olavo M; Prokhorenko, Olga A; Kelley, Kay F et al. (2006) A comparison of fatigue scales in postpoliomyelitis syndrome. Arch Phys Med Rehabil 87:1213-7
Dalakas, Marinos C (2006) Inflammatory, immune, and viral aspects of inclusion-body myositis. Neurology 66:S33-8

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