A 48‐year‐old female, with a family history of AD PSEN1 mutation, who developed mild cognitive impairment and tried ketogenic diet‐associated medium‐chain triglyceride as treatment: Neuropsychiatry and behavioral...

Background: 48 years old female, biologist researchers, with a family history of AD PSEN1 mutation, symptoms compatible with Mild Cognitive Impairment (MCI) due to probable Alzheimer's disease. As part of clinical approach Ketogenic Diet and medium‐chain triglyceride was tried combined with conventional treatment. Method: the patient had a 2 ‐year long history of amnestic symptoms with a slow worsening, when medical help was sought. She underwent neurological and neuropsychological evaluation, magnetic resonance and specific genetic tests. It was observed memory and attention deficit, executive functions impairment; left hippocampal atrophy, ApoE E2/E3 profile and a variant of uncertain significance of PSEN1. At 48, she was classified as Mild Cognitive Impairment and started a treatment with middle‐chain triglycerides and Ketogenic Diet. Before starting the treatment, she underwent another neuropsychological evaluation, PET‐FDG and cerebrospinal fluid biomarkers profile. During the treatment, she will be monitored weekly by a nutritionist expert in ketogenic diet. After three months of treatment, she will repeat tests and exams. Result: Currently, the patient is being treated, until March 2020, at the end of it she will repeat tests and exams. According to previous studies1, 6 weeks of modified ketogenic diet, is associated with an improvement of the cerebrospinal fluid biomarker profile, cerebral perfusion, and cerebral ketone body uptake, in older adult with risk for Alzheimer Disease. Conclusion: This case is of great importance in describing a woman's history with the PSEN1 mutation, who underwent a Ketogenic Diet treatment while diagnosed with MCI. Regardless of the outcome, this case is essential to identify the effects of ketogenic diets on the biomarkers and neuropsychological tests on patients with the same profile. References: 1) Neth, B.J., Mintz, A., Whitlow, C., Jung, Y., Sai, K.S., Register, T.C. Kellar, D., Lockhart, S.N., Hoscheidt, S., Maldjian, J., Heslegrave, A.J., Blennow, K., Cunnane, S.C., Castellano, C.‐A., Zetterberg, H., Craft, S., Modified Ketogenic Diet Is Associated With Improved Cerebrospinal Fluid Biomarker Profile, Cerebral Perfusion, And Cerebral Ketone Body Uptake In Older Adults At‐Risk For Alzheimer's Disease: A Pilot Study, Neurobiology of Aging (2019). [ABSTRACT FROM AUTHOR]