We continue to explore the clinical, laboratory, neuropsyche and imaging features of at-risk members of families with Familial Presenile Dementia with Neuroserpin Storage. At the NIH Clinical Center we have seen 15 members of this family with full clinical evaluations. This project continues to be a long term exploration of the natural history of family members at risk so one year into the project is too early to draw conclusions about clinical features that exclude or include likely affected status. Our work with these families has clearly revealed the need for a future protocol that would explore the counselling issues in offering these families presymptomatic diagnosis. This is a complex counselling situation, with similarities to counselling patients with Huntington's Disease. These families provide not only rich clinical insight but the opportunity to understand the controversy surrounding presymptomatic testing in late onset neurodegenerative disorders.
| 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 |
