6533b7d8fe1ef96bd1269b0e
RESEARCH PRODUCT
A second family with familial AD and the V717L APP mutation has a later age at onset
John CollingeAlison K. GodboltNick C. FoxJohn BeckMartin N. RossorLisa Cipolottisubject
MalePediatricsmedicine.medical_specialtyMutation Missensemedicine.disease_causeAmyloid beta-Protein PrecursorAlzheimer DiseaseValineInternal medicinemedicineAmyloid precursor proteinHumansAge of OnsetAgedAge of Onset Aged Alzheimer Disease/genetics Alzheimer Disease/physiopathology Amino Acid Substitution Amyloid beta-Protein Precursor/genetics Female Humans Malle Middle Aged Mutation Missense PedigreeMutationSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicabiologyMean ageMiddle AgedPedigreeEndocrinologyAmino Acid Substitutionbiology.proteinFemaleNeurology (clinical)Isoleucinedescription
Four mutations have been reported at the 717 codon of the amyloid precursor protein (APP), with valine substituted by isoleucine, glycine, phenylalanine, and leucine. While several families with the isoleucine substitution have been described, the other substitutions have been reported in only one family each worldwide. A family with the V717L APP mutation has been previously reported,1 with a mean age at onset of 38 years (range 35 to 39), based on four affected family members, and a mean age at death of 46 years (range 40 to 50). We have identified a second family with a later mean age at onset of 50 years (range 48 to 57) and mean age at death of 61 years (range 57 to 68). Family 171 is white and originates from England. We assessed Patients 3.1 and 3.4 and gathered information on other affected family members from medical records and the family (figure). Presymptomatic data are reported for Patient 3.4. Genetic …
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2006-02-27 | Neurology |