We continue to explore the clinical, laboratory, neuropsyche and imaging features of at-risk members of families with Familial Presenile Dementia with Neuroserpin Storage. Over the past year the name of the disorder has been changed to Familial Encephalopathy with Neuronal Inclusion Bodies (FENIB). At the NIH Clinical Center we have seen 22 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. The protocol this year was extended to a translation of the consent in Korean which will be used to include a Korean child affected with this disorder. This extension to the pediatric population 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 and assessment of counselling needs remain the clinical goals for this project. A parallel laboratory project includes the development of a mouse model for FENIB which will further help to elucidate the phenotype and genotypic variation.
| 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 |
