P1-125: A Possible Pathogenic Psen2 Mutation, H169N in a Korean Eoad Patient
نویسندگان
چکیده
منابع مشابه
A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer’s dementia supported by structure prediction
A 49-year-old Korean male patient with dementia was diagnosed with probable early-onset Alzheimer's disease (AD). He presented with memory problems, personality changes, and disorientation. His family history of dementia was probably negative, since no family member with dementia was found or mentioned. Mild cortical atrophy was observed upon magnetic resonance imaging analyses of his brain, an...
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Dear Editor, Leber’s hereditary optic neuropathy (LHON) is an inherited disorder that causes visual loss predominantly in young men. More than 90% of LHON cases are due to one of the following three primary mitochondrial DNA point mutations: G3460A, G11778A, and T14484C.1 While the T14484C mutation is known to show milder pathogenicity and a better outcome than the other mutations,2 here we rep...
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Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...
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ژورنال
عنوان ژورنال: Alzheimer's & Dementia
سال: 2016
ISSN: 1552-5260
DOI: 10.1016/j.jalz.2016.06.873