Publications by authors named "Shusei Arafuka"
Treatment-resistant schizophrenia with 22q11.2 deletion and additional genetic defects.
Neuropsychopharmacol Rep
December 2024
Article Synopsis
- - A 61-year-old woman with 22q11.2 deletion syndrome presented symptoms like intellectual developmental disorder, treatment-resistant schizophrenia, and various congenital anomalies, linked to a unique genetic variant identified through whole-genome sequencing.
- - Whole-genome sequencing unveiled a significant deletion in chromosome 22 and a nonsense variant in the MAP1A gene, which is connected to key processes in brain development and has been linked to autism and schizophrenia.
- - This case emphasizes the value of whole-genome sequencing in uncovering additional genetic factors that may account for the varying clinical features of 22q11.2 deletion syndrome, suggesting the need for more research on these secondary genetic influences.
Article Synopsis
- The study investigates why older patients with schizophrenia might be prone to developing dementia, despite previous findings suggesting their Alzheimer's disease risk is similar to those without schizophrenia.
- It involved an examination of 32 brains from older schizophrenia patients to analyze dementia-related neuropathologies and compare clinicopathological differences between those with and without dementia.
- The results revealed two subgroups of dementia in these patients: those with known neurodegenerative diseases and those without identifiable pathology, indicating a need for more thorough research on this issue.
Article Synopsis
- The m. 3243A>G mutation is linked to mitochondrial diseases like MELAS, which lead to symptoms such as muscle weakness, brain dysfunction, and stroke-like episodes.
- A study of six autopsied cases with the mutation revealed significant brain damage, especially in certain lobes, while the medial temporal lobe remained unaffected despite high mtDNA heteroplasmy.
- Common neurological findings were inconsistent in mutant cases, suggesting distinct neuropathological markers, including unique changes in brain vessel structure and choroidal epithelial cells, which could aid in diagnosing mitochondrial disorders.
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