Τίτλος:
Novel mutations and repeated findings of mutations in familial Alzheimer
disease
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Twenty-one unrelated patients with a history of suspected familial
Alzheimer disease (FAD) were screened for mutations in PSEN1, PSEN2, and
APP, the known FAD genes encoding the presenilins (PS1 and PS2) and the
amyloid precursor protein (APP). The mutation detection rate was 57%.
Of the nine pathogenic mutations found in 12 cases, three were in APP,
one in PSEN2, and five in PSEN1, including two novel Greek mutations
(L113Q and N135S). Whereas our findings suggest the possibility of
single founders for the majority of mutations, we found evidence of
recurrence of the APP mutations V717L and V717I.
Συγγραφείς:
Finckh, U
Kuschel, C
Anagnostouli, M
Patsouris, E and
Pantes, GV
Gatzonis, S
Kapaki, E
Davaki, P
Lamszus, K
and Stavrou, D
Gal, A
Λέξεις-κλειδιά:
familial Alzheimer disease; FAD; mutation; recurrent mutation; founder;
APP; PSEN1; PSEN2
DOI:
10.1007/s10048-005-0211-x
