Abstract

We were the first group to identify multiple mutations in the desmin gene that caused myofibrillar myopathy. In addition, we have described a new variant of hereditary amyotrophic lateral sclerosis associated with a mutation in the SOD1 gene. Additionally, we have characterised a distinct form of prion encephalopathy caused by a novel mutation in the PRNP gene. We also presented evidence for digenic inheritance of malignant hyperthermia susceptibility in a large American family by detecting a novel mutation in the RYR1 gene and a strong linkage to the 7q11.23-21.1 region. We are CLIA-certified to perform genetic testing for spinocerebellar ataxias, desmin myopathy and prion diseases; 209 patients were tested during FY99. - Desmin myopathy; spastic paraplegia; spino-cerebellar ataxia; prion diseases.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Intramural Research (Z01)
Project #
1Z01NS002973-01
Application #
6228064
Study Section
Special Emphasis Panel (OCD)
Project Start
Project End
Budget Start
Budget End
Support Year
1
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
National Institute of Neurological Disorders and Stroke
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Platonov, Fedor A; Tyryshkin, Kathrin; Tikhonov, Dmitriy G et al. (2016) Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1. Neurogenetics 17:179-85
Goldfarb, Lev G; Dalakas, Marinos C (2009) Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest 119:1806-13
Vladimirtsev, Vsevolod A; Nikitina, Raisa S; Renwick, Neil et al. (2007) Family clustering of Viliuisk encephalomyelitis in traditional and new geographic regions. Emerg Infect Dis 13:1321-6
Salajegheh, M; Rakocevic, G; Raju, R et al. (2007) T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis. Neurology 69:1672-9
Olive, Montse; Armstrong, Judith; Miralles, Francesc et al. (2007) Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene. Neuromuscul Disord 17:443-50
Kostera-Pruszczyk, Anna; Pruszczyk, Piotr; Kaminska, Anna et al. (2007) Diversity of cardiomyopathy phenotypes caused by mutations in desmin. Int J Cardiol :
Bar, Harald; Goudeau, Bertrand; Walde, Sarah et al. (2007) Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. Hum Mutat 28:374-86
Dalakas, Marinos C; Rakocevic, Goran; Shatunov, Alexey et al. (2007) Inclusion body myositis with human immunodeficiency virus infection: four cases with clonal expansion of viral-specific T cells. Ann Neurol 61:466-75
Pruszczyk, Piotr; Kostera-Pruszczyk, Anna; Shatunov, Alexey et al. (2007) Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. Int J Cardiol 117:244-53
Fischer, Dirk; Clemen, Christoph S; Olive, Montse et al. (2006) Different early pathogenesis in myotilinopathy compared to primary desminopathy. Neuromuscul Disord 16:361-7

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