Behavioral variant frontotemporal dementia associated with GRN and ErbB4 gene mutations: a case report and literature review.

OBJECTIVE: To report the clinical manifestation and genetic characteristics of a patient having frontotemporal dementia (FTD) with abnormal behavior and unstable walking. METHODS: The clinical and imaging features of a patient who was eventually diagnosed with FTD were analyzed. The patient's neuropsychological, PET-CT, electromyography, and genetic data were collected. Furthermore, the patient's blood samples were examined for FTD-related genes. RESULTS: The patient was a 52-year-old man with hidden onset. The symptoms progressed gradually, presenting with abnormal behaviors, including repeated shopping, taking away other people's things, constantly eating snacks, and frequently calling friends at night. The patient also exhibited executive dysfunction, such as the inability to cook and multiple driving problems, e.g., constantly deviates from his lane while driving. In addition, the patient showed personality changes such as irritability, indifference, and withdrawal, as well as motor symptoms, including unstable walking and frequent falls when walking. Brain magnetic resonance imaging revealed hippocampal sclerosis along with widening and deepening of the bilateral temporal lobe sulcus. Brain metabolic imaging via PET-CT demonstrated decreased metabolism in the bilateral prefrontal lobe, with the abnormal energy metabolism indicating FTD. Lastly, blood sample analysis detected mutations in the amyotrophic lateral sclerosis (ALS)-related GRN gene c.1352C > T (p.P451L) and ErbB4 gene c.256 T > C (p.Y86H). CONCLUSION: This is the first case of heterozygous mutations in the GRN and ErbB4 genes in FTD alone. The GRN and ErbB4 genes are likely to be important in the pathogenesis of FTD, expanding the common genetic profile of ALS and FTD.

Analysis on the correlation between the occurrence of vertebral artery ostium stenosis and the severity of osteoporosis in elderly patients with atherosclerosis.

To analyze the correlation between the occurrence of vertebral artery ostium stenosis (VAOS) and the severity of osteoporosis in elderly patients with atherosclerosis (AS), and disclose the physiopathologic mechanism of the correlation between VAOS and osteoporosis. 120 patients were divided into two groups. The baseline data of both groups were collected. The biochemical indicators of patients in both groups were collected. The EpiData database was established to enter all the data into the database for statistical analysis. There were significant differences in the incidence of dyslipidemia among risk factors of cardia-cerebrovascular disease (P<0.05). LDL-C, Apoa and Apob were significantly lower than the control group (P<0.05). BMD, T-value and Ca in the observation group were significantly lower than the control group, while BALP and serum phosphorus in the observation group were significantly higher than the control group (P<0.05). The more severe the VAOS stenosis, the higher the incidence of osteoporosis, and there was a statistical difference in the risk of osteoporosis among different VAOS stenosis degrees (P<0.05). Apolipoprotein A, B and LDL-C in blood lipids are important factors affecting the development of bone and artery diseases. There is a significant correlation between VAOS and the severity of osteoporosis. The pathological calcification process of VAOS has many similarities with the process of bone metabolism and osteogenesis, and shows preventable and reversible physiological characteristics.