Kobe University · Graduate School of Medicine / Faculty of Medicine

Research keywordsアルツハイマー病,・認知症,・バイオリソース・Audiology・Disease・Internal・medicine・Epilepsy

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• 終夜ウェアラブル脳波計測による高齢発症てんかんの神経生理学的研究2023 · 2023年, てんかん治療研究振興財団研究年報, 34
• Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.1978 · IMPORTANCE: Repeat expansion of CGG in LRP12 has been identified as the causative variation of oculopharyngodistal myopathy (OPDM). However, to our knowledge, the clinicopathologic features of OPDM with CGG repeat expansion in LRP12 (hereafter referred to as OPDM_LRP12) remain unknown. OBJECTIVE: To identify and characterize the clinicopathologic features of patients with OPDM_LRP12. DESIGN, SETTING, AND PARTICIPANTS: This case series included 208 patients with a clinical or clinicopathologic diagnosis of oculopharyngeal muscular dystrophy (OPDM) from January 1, 1978, to December 31, 2020. Patients with GCN repeat expansions in PABPN1 were excluded from the study. Repeat expansions of CGG in LRP12 were screened by repeat primed polymerase chain reaction and/or Southern blot. MAIN OUTCOMES AND MEASURES: Clinical information, muscle imaging data obtained by either computed tomography or magnetic resonance imaging, and muscle pathologic characteristics. RESULTS: Sixty-five Japanese patients with OPDM (40 men [62%]; mean [SD] age at onset, 41.0 [10.1] years) from 59 families with CGG repeat expansions in LRP12 were identified. This represents the most common OPDM subtype among all patients in Japan with genetically diagnosed OPDM. The expansions ranged from 85 to 289 repeats. A negative correlation was observed between the repeat size and the age at onset (r2 = 0.188, P = .001). The most common initial symptoms were ptosis and muscle weakness, present in 24 patients (37%). Limb muscle weakness was predominantly distal in 53 of 64 patients (83%), but 2 of 64 patients (3%) had predominantly proximal muscle weakness. Ptosis was observed in 62 of 64 patients (97%), and dysphagia or dysarthria was observed in 63 of 64 patients (98%). A total of 21 of 64 patients (33%) had asymmetric muscle weakness. Aspiration pneumonia was seen in 11 of 64 patients (17%), and 5 of 64 patients (8%) required mechanical ventilation. Seven of 64 patients (11%) developed cardiac abnormalities, and 5 of 64 patients (8%) developed neurologic abnormalities. Asymmetric muscle involvement was detected on computed tomography scans in 6 of 27 patients (22%) and on magnetic resonance imaging scans in 4 of 15 patients (27%), with the soleus and the medial head of the gastrocnemius being the worst affected. All 42 muscle biopsy samples showed rimmed vacuoles. Intranuclear tubulofilamentous inclusions were observed in only 1 of 5 patients. CONCLUSIONS AND RELEVANCE: This study suggests that OPDM_LRP12 is the most frequent OPDM subtype in Japan and is characterized by oculopharyngeal weakness, distal myopathy that especially affects the soleus and gastrocnemius muscles, and rimmed vacuoles in muscle biopsy.
• Cognitive performance and blood biomarkers: Insights into their relationship and predicting high Amyloid Probability Score in cognitively impaired older adults.BackgroundUnderstanding associations between cognitive performance and blood biomarkers supports diagnosis and treatment of Alzheimer's disease (AD); however, this relationship remains unclear.ObjectiveExploring associations between the Amyloid Probability Score (APS; PrecivityAD® blood test) and cognitive performance, and between Mini-Mental State Examination (MMSE) and Cogstate Brief Battery (CBB) in cognitively impaired older adults.MethodsOlder adults aged ≥ 60 years with MMSE from 10 to 27, recruited from a cohort in Japan, were assessed with the CBB, and plasma biomarkers to calculate APS. We used Spearman correlation to explore relationships; receiver operating curves and cross-validation to identify the best model for predicting high APS.ResultsAmong 46 participants (mean age = 78.3 ± 5.9; mean MMSE = 20.3 ± 4.6), 39.1% did not complete at least one test in the CBB. Lower MMSE were observed in those who were non-completers. MMSE correlated with Detection (Psychomotor function), Identification (Attention), and their composite (r = 0.34-0.52; p
• Association between electrographic seizures and better neurological functional outcomes in non-convulsive status epilepticus.OBJECTIVE: In non-convulsive status epilepticus (NCSE), predicting patient outcomes is crucial in deciding treatment intensity. However, electroencephalograms (EEGs) of NCSE show various patterns, and their relationship with functional outcomes remains unclear. We aimed to examine the relationship between NCSE EEG patterns and functional outcomes. METHODS: We retrospectively collected data from 105 NCSE patients without cardiopulmonary arrest at two centers and compared functional outcomes in NCSE patients with electrographic seizures (ESz) and those with rhythmic/periodic patterns (RPPs) at discharge. Functional outcomes were assessed using the dichotomized modified Rankin scale (≥4 or less), with univariate and multivariate analyses conducted on patient backgrounds and therapeutic interventions. We compared background activities and discharge waveforms in periodic discharges (PDs) using the Fourier transform. RESULTS: ESz independently predicted better outcomes after adjusting for severity (Glasgow Coma Scale and Epidemiology-based Mortality Score). In PDs, the group with better outcomes exhibited larger alpha-band background activity and larger post-discharge slow waves. CONCLUSIONS: NCSE with ESz was associated with better functional outcomes than RPPs alone. Spared alpha-band background activity and larger amplitude of post-discharge slow shifts may indicate spared brain function in patients with PDs. SIGNIFICANCE: These results could assist in predicting outcomes and deciding treatment intensity in NCSE.

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