RESUMO
Amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are associated with autosomal-dominant early-onset Alzheimer's disease (AD). Most mutations have been identified in the PSEN1 gene. We discovered a PSEN1 mutation (Tyr389His) in a Korean patient with early-onset AD who presented memory decline at 41 years of age followed by language, memory, and visuospatial dysfunctions. As this is the third such patient identified in Korea, this mutation may be involved in AD pathogenesis, suggesting that routine screening is necessary in this population. Altered intra-molecular interactions with the mutated amino acid may result in the destabilization of γ-secretase. In the future, a panel incorporating genes with relatively high-frequency rare variants, along with the APOE4 gene, may predict the onset of AD and facilitate customized treatment.
Assuntos
Doença de Alzheimer , Humanos , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/genética , Doença de Alzheimer/metabolismo , Precursor de Proteína beta-Amiloide/genética , Mutação , Presenilina-1/genética , Presenilina-1/química , Presenilina-2/genética , República da CoreiaRESUMO
Paroxysmal events during sleep can be classified into parasomnias, sleep-related movements, psychiatric events, neurologic events, or medically related events. Diagnosis can be difficult because of the frequent overlap of clinical descriptors and lack of diurnal findings. We report a case of a 68-year-old man who presented to the hospital complaining of awakening from sleep with numbness, which was followed by an indescribable odd feeling. We discuss overlapping clinical features of nocturnal panic and sleep-related epilepsy.
