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Topic: NOTCH3

ePoster
2 ePosters

In Neuroscience

Genetic and clinical insights into CADASIL patients in Cyprus

Mai Alaraimi, Kousiappa Ioanna, Pitsas Giorgos, Papacostas Savvas S, Tanteles George A, Spanou Elena, Demetriou Eleni, Koupparis Andreas M · FENS Forum 2024

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by NOTCH3 gene mutations affecting cysteine residues in the Notch3 receptor's extracellular domain. The disease is characterized by recurrent strokes, cognitive decline, migraines with aura, epilepsy, gait disturbances, and psychiatric problems. This study investigated the clinical features and NOTCH3 mutations in Cypriot CADASIL patients to identify genotype-phenotype correlations. Nineteen genetically confirmed CADASIL patients (10 males,

ePoster · Neuroscience

Identifying candidate genes associated with hippocampal dysfunction in a hemiparkinsonian rat model by transcriptomic profiling

Bohye Kim, Sungmoo Hong, Jeongmin Lee, Sohi Kang, Joong-Sun Kim, Taekyun Shin, BuHyun Youn, Changjong Moon · FENS Forum 2024

Parkinson’s disease (PD) often results in hippocampal dysfunction, which leads to cognitive and emotional challenges and synaptic irregularities. This study attempted to assess behavioral anomalies and identify differentially expressed genes (DEGs) within the hippocampus of a hemiparkinsonian rat model to potentially uncover novel genetic candidates linked to hippocampal dysfunction. Striatal 6-hydroxydopamine (6-OHDA) infusions were performed unilaterally in the brains of adult SD rats, while dopaminergic impairments were verified in rats with 6-OHDA-lesioned striata. RNA sequencing and gene

ePoster · Neuroscience