We continue to explore the clinical, laboratory, neuropsychiatric and imaging features of at-risk members of families with FamilialEncephalopathy with Neuroserpin Inclusion Bodies (FENIB). At the NIH Clinical Center we have seen 25 individuals at risk for this disorder for full clinical evaluations. The clinical facet of this project continues to be a long term exploration of the natural history of family members at risk. This will increase our insight into the pathophysiology and clinical presentation of FENIB. These families provide not only rich clinical insight but the opportunity to understand the controversy surrounding presymptomatic testing in late onset neurodegenerative disorders. Further clinical delineation, appropriate diagnostic and management strategies and assessment of counselling needs remain the clinical goals for this project. Dr. Lacbawan is currently developing a mouse model for FENIB which will further help to elucidate the phenotype and genotypic variation and possible therapeutic options under the direction of Dr. Muenke.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000156-06
Application #
7316023
Study Section
Molecular Genetics B Study Section (MGB)
Project Start
Project End
Budget Start
Budget End
Support Year
6
Fiscal Year
2006
Total Cost
Indirect Cost
Name
Human Genome Research
Department
Type
DUNS #
City
State
Country
United States
Zip Code
El-Jaick, Kenia B; Powers, Shannon E; Bartholin, Laurent et al. (2007) Functional analysis of mutations in TGIF associated with holoprosencephaly. Mol Genet Metab 90:97-111
Bendavid, C; Haddad, B R; Griffin, A et al. (2006) Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. J Med Genet 43:496-500