Reiko Namba's research while affiliated with Okayama Rosai Hospital and other places

... The disease severity correlates with the residual catalytic activity of the mutant enzyme [273]; the more functioning enzyme, the less severe phenotype. Patients with the infantile variant of GM1 gangliosidosis have close to 0.1% of normal catalytic activity [274], whereas late-onset patients have values closer to 10% [275]. ...

... Several hereditary biochemical disorders have been identified predisposing to carpal tunnel syndrome, such as inheritable myopathies, familial hypercholesterolemia, familial amyloidosis, or hereditary neuropathy with liability to pressure palsies [9][10][11]. The incidence of CTS in families affected by these diseases is much higher than in the general population, and onset of the syndrome occurs early, usually in the second or third decade of life. ...

... In humans, DRPLA is characterized by marked, generalized brain and spinal cord atrophy, especially the dentatorubral and pallidoluysian systems (136,183). The pallidoluysian degeneration is more severe than the dentatorubral degeneration in juvenile onset; white matter changes were often detected in patients with onset of DRPLA in adulthood (79,148,223). Autopsy study of the white matter lesions showed diffuse myelin pallor, axonal preservation, and reactive astrogliosis in the cerebral white matter with only mild atherosclerotic changes (134). The diffuse accumulation of mutant ATN-1 proteins, found in the neurons and glial cells in the striatum, pontine, inferior olive, cerebellar cortex and dentate nucleus, is regarded as toxic (68). ...

... Residual enzyme activity levels are expected to be inversely correlated with disease severity [4,5]. Besides, β-GAL activity is particularly analyzed by synthetic fluorogenic substrate 4-methyl-umbelliferyl-β-D-galactopyranoside, which may not be rigorous enough to predict the clinical course [1,4,6]. In patient 3 and 4, supporting the literature, despite leukocyte enzyme activity levels were 0, their clinical findings were relatively milder. ...

... The estimated survival time based on a fully symptomatic patient is estimated to be between 10 and 16.9 years from the onset of focal neurological disease [27]. In terms of treatment options, no cure is available for MELAS syndrome, and all possible treatment methods aim to either control evolved complications (for example, using antiepileptic medications for seizures [28] and hearing aid devices for hearing loss [29]), improve quality of life, decrease crisis severity by minimizing the demand on mitochondria and maximizing their function, or enhance the production of NO by using l-arginine [30,31], citrulline [31], coenzyme Q10 [32,33], and riboflavin (B2) [34]. ...

... Cerebellar connectivity was implemented in social anxiety and chronic work stress 22,55 . Moreover, co-morbidity of cerebellar ataxia and depression might involve CRF disfunction [56][57][58] . However, the direction of the relationship between stress and motor capabilities is not yet clear, and thus further research is needed 21,58 . ...

... Our transcriptomics findings indicate that there is an enrichment for genes related to oxidative stress, which is coherent with our in vitro findings showing that senescent cells express higher levels of ROS than nonsenescent cells. Toxic RNA accumulation caused by the CTG repeats in the DMPK gene has been shown to induce ROS production and oxidative damage in DM1 14,[44][45][46][47] . Chronic ROS production triggers a DNA damage response leading to cell cycle arrest and cellular senescence, which in turn secretes further ROS and SASP leading to a feed-forward cycle 14,48,49 . ...

... Ascorbate free radical is a marker of oxidative stress (5). The levels of ascorbate free radical and hydroxyl radical in the cerebrospinal fluid (CSF) of patients with neurological diseases including mitochondrial encephalornyopathy showing oxidative stress (6) and patients undergoing lumbar anesthesia for surgery (surgical patients) were measured in order to clarify the possible significance of free radicals in CSF. ...

... Although less conspicuous to patients, cardiovagal abnormalities, including reduced heart rate variability, are present in 50% of patients [151,162], though more serious cardiovascular autonomic failure appears rare [151,163]. However, patients with advancing disease may have exaggerated reflex tachycardia, hypertension and unexpected hypotension [163,164], with loss of parasympathetic control coupled with sympathetic hyperactivity resulting in circulatory collapse and rarely sudden death [163,165]. Excessive sweating is common early on, possibly reflecting initial sympathetic overactivity, though this switches to reduced sweating in later disease [166]. ...

... While some studies indicated a decrease in SOD activity in both fALS and sALS, the results of other studies indicated an increase in SOD activity in the CSF of patients with sALS. [8][9][10][11] As for NO, the results of previous studies show elevated or unchanged levels. The different outcomes may depend either on the ALS type, the disease duration, or the sampling time. ...