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Difficult case of a rare form of familial Alzheimer’s disease with PSEN1 P117L mutation

Less than 10% of Alzheimer’s disease (AD) cases are familial. Presenilin-1 (PSEN1) mutations are the most frequent aetiology and may be associated to atypical neurological manifestations. We report the case of a 27-year-old right-handed man, ensuing with mild cognitive impairment, motor discoordinat...

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Publicat a:BMJ Case Rep
Autors principals: Rocha, Ana Luísa, Costa, Andreia, Garrett, Maria Carolina, Meireles, Joana
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2018
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6301458/
https://ncbi.nlm.nih.gov/pubmed/30567237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-226664
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