Publications by authors named "Ryuichi Koizumi"
Correlation between clinical and neuropathological subtypes of progressive supranuclear palsy.
Parkinsonism Relat Disord
October 2024
Introduction: Progressive supranuclear palsy (PSP) is characterized by pathology prominently in the basal ganglia, the tegmentum of the brainstem, and the frontal cortex. However, pathology varies according to clinical features. This study aimed to statistically verify the correspondence between the clinical and pathological subtypes of PSP.
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- 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.
The retinal pathology of genetically confirmed neuronal intranuclear inclusion disease (NIID) is yet unknown. We report the ocular findings in four NIID patients with NOTCH2NLC GGC repeat expansion to investigate the pathology of retinopathy. All four NIID patients were diagnosed by skin biopsy and NOTCH2NLC GGC repeat analysis.
View Article and Find Full Text PDFProgressive supranuclear palsy (PSP) can be diagnosed despite the presence of asymmetrical parkinsonism depending on the clinical diagnostic criteria. Some studies have reported that atrophy of the superior cerebellar peduncle (SCP) is more frequent in PSP than in Parkinson's disease. There have also been reports of PSP cases with an asymmetrically atrophic SCP.
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- The neuropathological background of parkinsonism comprises several neurodegenerative disorders like Lewy body disease (LBD), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD).
- Macroscopic examination of the brain reveals distinct patterns, such as atrophy and discoloration, which guide further microscopic analysis essential for diagnosis based on the unique proteinopathies present in these conditions.
- The review emphasizes the importance of these macroscopic clues and highlights the complexities involved in validating findings due to factors like disease duration and mixed pathologies.
The diagnosis of presymptomatic Creutzfeldt-Jakob disease (CJD) is challenging. The levels of total tau protein, 14-3-3 protein, and protease-resistant isoform of prion protein (PrP) in the cerebrospinal fluid; periodic sharp wave complexes on electroencephalography; and diffusion-weighted imaging (DWI) of brain magnetic resonance imaging (MRI) have all been used to diagnose symptomatic CJD, but none of these markers have been established in the diagnosis of presymptomatic CJD. Here, we report a case of genetic CJD with the V180I mutation in which a small punctate cortical hyperintensity was detected on DWI 6 months before symptom onset and 9 months before diagnosis.
View Article and Find Full Text PDFWe report an autopsy case of Fahr's syndrome in an 85-year-old woman associated with asymptomatic hypoparathyroidism. The patient was diagnosed as having brain calcification at 65 years of age. She developed mild dementia at 75, parkinsonism at 76, and severe dementia at 82.
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- The study investigates multiple system atrophy (MSA) patients with a specific focus on those showing significant pathological changes in the hippocampus, a region of the brain involved in memory.
- Out of 146 autopsied MSA patients, 12 (8.2%) exhibited severe neuronal cytoplasmic inclusions (NCIs) in the hippocampus and associated areas, showing a distinct profile compared to the rest.
- Notable findings include a higher number of affected women, longer disease duration, increased cognitive impairment, and distinctive NCI morphologies, indicating the need for further understanding of MSA variants linked to hippocampal pathology.