Neuronal intranuclear inclusion disease mimicking progressive supranuclear palsy.

BACKGROUND: Given the variable nature of clinical manifestations, neuronal intranuclear inclusion disease (NIID) is regarded as a heterogeneous disease which is challenging to diagnose early. To the present, progressive supranuclear palsy (PSP)-like symptoms have never been listed in the performance of NIID. CASE PRESENTATION: A 58-year-old man presented with progressive Parkinsonism and postural instability for 3 years. Initially, he was considered as probable PSP due to vertical supranuclear gaze palsy, postural instability, and hummingbird sign. No high-intensity signal on diffusion-weighted imaging (DWI) was revealed. Eventually, the diagnosis was revised to NIID by Notch 2 N-terminal like C (NOTCH2NLC) GGC repeat expansions and skin biopsy showing intranuclear eosinophilic inclusions in the vesicles and ductal epithelial cells of sweat glands. CONCLUSION: Even if the typical high-intensity along the corticomedullary junction (CMJ) on DWI is lacking, clinicians should be alert to the possibility of NIID when PSP-like symptoms develop. This case report offers new features of NIID and expands its clinical spectrum.

The Relationship Between Fermented Dairy Consumption with Cognitive Function Among Older US Adults: Data from the NHANES 2011-2014.

Background: The aging global population has led to an increased burden of cognitive impairment in older adults. Objective: This study examined the relationship between fermented dairy intake and cognitive function in this population. Methods: Yogurt, cheese, and fermented dairy consumption were assessed through two 24-hour dietary recall interviews, categorized into low, medium, and high intake groups. Multivariate linear regression was employed to examine the relationship between fermented dairy intake and cognitive tests, including the Alzheimer's Disease Word Learning Immediate Recall Test (CERAD-IRT), CERAD Delayed Recall Test (CERAD-DRT), Animal Fluency Test (AFT), Digit Symbol Substitution Test (DSST), and global cognitive z-scores, adjusting for potential confounding factors. Results: The study comprised 2,462 participants (average age 69.34±6.75 years, 52.07% female). Among yogurt consumers, global cognition and AFT z-scores are notably higher than non-consumers. Conversely, individuals who consume cheese display significantly lower CERAD-DRT z-scores. Compared to participants not intake fermented dairy, consumers of fermented dairy show significantly higher AFT and DSST z-scores and lower CERAD-DRT z-scores. Moreover, when categorizing individuals based on their intake of fermented dairy, those with low and medium consumption show significantly higher AFT and DSST z-scores, as well as significantly lower CERAD-DRT z-scores compared to non-consumers. Conclusions: Our study suggests that moderate consumption of fermented dairy products is associated with better executive function and verbal fluency in the elderly.

Characterization of SNCA Multiplication in Parkinson's Disease: 2 New Cases and Evaluation of the Literature.

Background: Alpha-synuclein (SNCA) copy number variations (CNV) have been certified as a causative mutation in patients with familial and sporadic Parkinson's disease (PD). Case: We report three SNCA duplication cases diagnosed as PD. Through whole-exome sequencing, we identified a de novo 4.56 Mb repeated region in one patient and a 2.50 Mb repeated region in familial PD with two patients. Literature review: In review of previous cases, we suggest that aggressive behavior is more remarkable in CNV4 patients. Meanwhile, frequency of cognition decline and dementia were slightly increased in CNV4 patients. We also illustrate a younger onset age in offspring than parent in familial SNCA multiplication PD cases. No difference was observed in disease duration between parent and offspring generation. Conclusions: Our findings demonstrated the clinical and genetic characteristics in PD with SNCA multiplication and provided strong evidence for genetic anticipation. These results may be instructive for future disease diagnosis and genetic counseling.