Novel mutations and repeated findings of mutations in familial Alzheimer disease.
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Novel mutations and repeated findings of mutations in familial Alzheimer disease. / Finckh, Ulrich; Kuschel, Christian; Anagnostouli, Maria; Patsouris, Efstratios; Pantes, George V; Gatzonis, Stylianos; Kapaki, Elisabeth; Davaki, Panagiota; Lamszus, Katrin; Stavrou, Dimitrios; Gal, Andreas.
In: NEUROGENETICS, Vol. 6, No. 2, 2, 2005, p. 85-89.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Novel mutations and repeated findings of mutations in familial Alzheimer disease.
AU - Finckh, Ulrich
AU - Kuschel, Christian
AU - Anagnostouli, Maria
AU - Patsouris, Efstratios
AU - Pantes, George V
AU - Gatzonis, Stylianos
AU - Kapaki, Elisabeth
AU - Davaki, Panagiota
AU - Lamszus, Katrin
AU - Stavrou, Dimitrios
AU - Gal, Andreas
PY - 2005
Y1 - 2005
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 6
SP - 85
EP - 89
JO - NEUROGENETICS
JF - NEUROGENETICS
SN - 1364-6745
IS - 2
M1 - 2
ER -