Abstract

The purpose of the Neurogenetics Branch is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. Particular areas of research interest include the polyglutamine expansion diseases (Huntingtons disease, Kennedys disease, and spinocerebellar ataxia), spinal muscular atrophy, Charcot-Marie-Tooth disease, myotonia congenita, muscular dystrophy, hereditary motor neuron disease, and Friedreichs ataxia. The disease mechanisms are studied in cell culture and other model systems. Gene transfer techniques are being investigated as potential treatment. A related area of investigation is the mechanism of androgen effects on muscle strength and motor neuron survival. A genetic outreach program is intended to identify and characterize patients and families with hereditary neurological diseases. - hereditary neurological disease, motor neuron disease, polyglutamine expansion, Charcot-Marie-Tooth disease, muscular dystrophy

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Intramural Research (Z01)
Project #
1Z01NS002974-01
Application #
6228065
Study Section
Special Emphasis Panel (NGB)
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

Traore, M; Landoure, G; Motley, W et al. (2009) Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. Neurogenetics 10:319-23
Brewer, Megan; Changi, Febriani; Antonellis, Anthony et al. (2008) Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region. Neurogenetics 9:191-5
Pierson, T M; Zimmerman, R A; Tennekoon, G I et al. (2008) Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity. Neuropediatrics 39:123-7
Mochel, Fanny; Knight, Melanie A; Tong, Wing-Hang et al. (2008) Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet 82:652-60
van de Leemput, Joyce; Chandran, Jayanth; Knight, Melanie A et al. (2007) Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet 3:e108
Sumner, C J; Kolb, S J; Harmison, G G et al. (2006) SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology 66:1067-73
Lorenzo, D N; Forrest, S M; Ikeda, Y et al. (2006) Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5. Neurology 67:2084-5
Sumner, Charlotte J (2006) Therapeutics development for spinal muscular atrophy. NeuroRx 3:235-45
Kolb, Stephen J; Gubitz, Amelie K; Olszewski Jr, Robert F et al. (2006) A novel cell immunoassay to measure survival of motor neurons protein in blood cells. BMC Neurol 6:6
Jeng, Linda Jo Bone; Balice-Gordon, Rita J; Messing, Albee et al. (2006) The effects of a dominant connexin32 mutant in myelinating Schwann cells. Mol Cell Neurosci 32:283-98

Showing the most recent 10 out of 72 publications