Abstract

The purpose of this research program is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. A genetic outreach program allows the identification and characterization of patients and families with hereditary neurological diseases. Specific research accomplishments in the past year include the following: (1) collaboration in the identification of the genetic defect responsible for spinocerebellar ataxia type 20; (2) a collaborative genetic outreach program in Bamako, Mali; (3) collaboration in the identification and evaluation of candidate genes for Larsson-Linderholm syndrome, familial autoimmune myasthenia gravis, Charcot-Marie-Tooth disease type 2C, and a new form of hereditary spastic paraplegia.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Intramural Research (Z01)
Project #
1Z01NS002974-10
Application #
7735279
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
10
Fiscal Year
2008
Total Cost
$1,212,953
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