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 evaluation of novel mutations for lafora body disease and spinocerebellar ataxia type 20, and candidate genes for familial autoimmune myasthenia gravis (ENOX), Charcot-Marie-Tooth disease type 2C (TRPV4), and a new form of hereditary spastic paraplegia mapped to chromosome 19.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIANS002974-11
Application #
7969580
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
11
Fiscal Year
2009
Total Cost
$988,642
Indirect Cost

  Institution

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

  Publications

Jerath, Nivedita U; Mankodi, Ami; Crawford, Thomas O et al. (2018) Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Muscle Nerve 57:749-755
Guinto, Cheick O; Diarra, Salimata; Diallo, Salimata et al. (2017) A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss. Ann Clin Transl Neurol 4:272-275
Geiger, Joshua T; Schindler, Alice B; Blauwendraat, Cornelis et al. (2017) TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia. Case Rep Neurol 9:216-221
Roda, Ricardo H; Schindler, Alice B; Blackstone, Craig (2017) SCA8 should not be tested in isolation for ataxia. Neurol Genet 3:e150
Landouré, Guida; Samassékou, Oumar; Traoré, Mahamadou et al. (2016) Genetics and genomic medicine in Mali: challenges and future perspectives. Mol Genet Genomic Med 4:126-34
Darnell, Andrew J; Austin, Howard; Bluemke, David A et al. (2016) A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research. Am J Hum Genet 98:435-41
Rinaldi, Carlo; Schmidt, Thomas; Situ, Alan J et al. (2015) Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. JAMA Neurol 72:561-70
Donkervoort, Sandra; Hu, Ying; Stojkovic, Tanya et al. (2015) Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. Hum Mutat 36:48-56
Grunseich, Christopher; Schindler, Alice B; Chen, Ke-Lian et al. (2015) Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. J Neurol 262:1066-8
de Dios, John Karl L; Shrader, Joseph A; Joe, Galen O et al. (2014) Atypical presentation of GNE myopathy with asymmetric hand weakness. Neuromuscul Disord 24:1063-7

Showing the most recent 10 out of 36 publications