We have identified and published an additional cause of an atypical form of BVVL. In addition we have identified a known SCA mutation causing SCA14. We have in addition, identified the cause of recessive forms of ataxia in 8 in bred families, and this work has revealed 2 novel genetic loci and mutations for this disease, including GBA2 mutations as a cause of this disease. Our current efforts revolve around exome sequencing within families with neurological disease;this is primarily centered on young onset, and probably autosomal recessive, forms of common neurological diseases, with a focus on Parkinson's disease, Alzheimer's disease, frontotemporal dementia, atypical dementias, and ataxias.

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAAG000958-11
Application #
8736668
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
11
Fiscal Year
2013
Total Cost
$454,602
Indirect Cost
Name
National Institute on Aging
Department
Type
DUNS #
City
State
Country
Zip Code
Bras, Jose; Djaldetti, Ruth; Alves, Ana Margarida et al. (2016) Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation. Neurobiol Aging 46:236.e1-6
Kara, Eleanna; Tucci, Arianna; Manzoni, Claudia et al. (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 139:1904-18
Mehta, Shyamal H; Dickson, Dennis W; Morgan, John C et al. (2016) Juvenile onset Parkinsonism with ""pure nigral"" degeneration and POLG1 mutation. Parkinsonism Relat Disord 30:83-5
Lesage, Suzanne; Drouet, Valérie; Majounie, Elisa et al. (2016) Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet 98:500-13
Singleton, Andrew (2015) A new gene for Parkinson's disease: should we care? Lancet Neurol 14:238-9
Nichols, Noah; Bras, Jose M; Hernandez, Dena G et al. (2015) EIF4G1 mutations do not cause Parkinson's disease. Neurobiol Aging 36:2444.e1-4
Singleton, Andrew (2015) X-linked Parkinson's disease. Mov Disord 30:196
Lesage, Suzanne; Bras, Jose; Cormier-Dequaire, Florence et al. (2015) Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet 1:e9
Jansen, Iris E; Bras, Jose M; Lesage, Suzanne et al. (2015) CHCHD2 and Parkinson's disease. Lancet Neurol 14:678-9
Johnson, Janel O; Stevanin, Giovanni; van de Leemput, Joyce et al. (2015) A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. Mov Disord 30:262-6

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