0000000000313177

AUTHOR

Alison K. Godbolt

showing 2 related works from this author

A second family with familial AD and the V717L APP mutation has a later age at onset

2006

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 …

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)IsoleucineNeurology
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MRS SHOWS ABNORMALITIES BEFORE SYMPTOMS IN FAMILIAL ALZHEIMER DISEASE

2006

Background: Pathologic change in Alzheimer disease (AD) begins some years before symptoms. MRS has the potential to detect metabolic abnormalities reflecting this early pathologic change. Presenilin 1 (PS1) and amyloid precursor protein (APP) mutation carriers have a nearly 100% risk of developing AD and may be studied prior to symptom onset. Methods: Short echo time proton MR spectra were acquired from a midline posterior cingulate voxel in presymptomatic carriers of PS1 or APP mutations (“presymptomatic mutation carriers” [PMCs]; n = 7) and age- and sex-matched control subjects (n = 6). Ratios of N-acetyl aspartate (NAA), myo-inositol (MI), and choline-containing compounds (Cho) to creati…

AdultMalemedicine.medical_specialtyPathologyMagnetic Resonance SpectroscopyAlzheimer disease brain metabolism nuclear magnetic resonance spectroscopyAdolescentNeuropsychological TestsCreatineGastroenterologyPresenilinCentral nervous system diseasechemistry.chemical_compoundDegenerative diseaseAlzheimer DiseaseReference ValuesInternal medicinemental disordersmedicineHumansFamilySymptom onsetAge of OnsetChildSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicaBrainInfantMiddle Agedmedicine.diseaseControl subjectsnervous system diseasesnervous systemchemistryChild PreschoolCarrier StateFemaleNeurology (clinical)Alzheimer's diseaseGeometric meanPsychology
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