Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation
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Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation. / Lindquist, S.G.; Nielsen, J.E.; Stokholm, J.; Schwartz, M.; Batbayli, M.; Ballegaard, M.; Erdal, J.; Krabbe, K.; Waldemar, G.
I: Journal of the Neurological Sciences, Bind 268, Nr. 1-2, 2008, s. 124-130.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation
AU - Lindquist, S.G.
AU - Nielsen, J.E.
AU - Stokholm, J.
AU - Schwartz, M.
AU - Batbayli, M.
AU - Ballegaard, M.
AU - Erdal, J.
AU - Krabbe, K.
AU - Waldemar, G.
PY - 2008
Y1 - 2008
N2 - BACKGROUND: Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features. METHODS AND RESULTS: We report a family with a history of dementia compatible with autosomal dominant transmission. The disease course in the proband was not typical for Alzheimer's disease as the diagnosis was preceded by 8 years of an isolated amnesia. Further, the proband had epilepsy with complex partial seizures and central degenerative autonomic failure as determined by clinical physiology. Sequencing the three known causative Alzheimer genes revealed a pathogenic missense mutation, APP Thr714Ala (the Iranian mutation). CONCLUSIONS: The atypical clinical phenotype with long prodromal phase, autonomic failure and seizures in this new proband with the APP Thr714Ala mutation illustrates the clinical heterogeneity in families with identical pathogenic mutations Udgivelsesdato: 2008/5/15
AB - BACKGROUND: Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features. METHODS AND RESULTS: We report a family with a history of dementia compatible with autosomal dominant transmission. The disease course in the proband was not typical for Alzheimer's disease as the diagnosis was preceded by 8 years of an isolated amnesia. Further, the proband had epilepsy with complex partial seizures and central degenerative autonomic failure as determined by clinical physiology. Sequencing the three known causative Alzheimer genes revealed a pathogenic missense mutation, APP Thr714Ala (the Iranian mutation). CONCLUSIONS: The atypical clinical phenotype with long prodromal phase, autonomic failure and seizures in this new proband with the APP Thr714Ala mutation illustrates the clinical heterogeneity in families with identical pathogenic mutations Udgivelsesdato: 2008/5/15
M3 - Journal article
VL - 268
SP - 124
EP - 130
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -
ID: 10903730