and the OPDM_LRP12 Study Group 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 PARTICIPANTSThis 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 (r 2 = 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 RELEVANCEThis 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.
If SBR is greater than 3.8, the SBR×H/M ratio can help diagnose PD. The combined use of the two scintigraphies can improve the diagnosis of PD.
Objectives: To determine whether serum levels of brain-derived neurotrophic factor (BDNF) are associated with response to electroconvulsive therapy (ECT) in treatment-resistant depressed patients with a relatively longer period of measurement. Methods: This study included 30 Japanese unipolar depressed patients with current major depressive episode. Montgomery-Äsberg Depression Rating Scale (MADRS) score was ≥21 in all subjects. ECT was performed twice a week for a total of 4-10 sessions. Serum BDNF levels were measured before ECT (T0), the day after the last ECT session (T1), and 1 month after the last ECT session (T2). Patient response to treatment was defined as a ≥50% decrease compared with the pretreatment total MADRS score. Results: Serum BDNF levels showed no significant variation among the patients during the entire study period. In responders, serum BDNF levels showed a progressive increase, and the differences between T0 and T1 and between T0 and T2 were significant (p=0.022 and p=0.007, respectively). In non-responders, serum BDNF levels showed a progressive decrease, and the difference between T0 and T2 was significant (p=0.012). No significant association was identified between change in serum BDNF level and change in total MADRS score in any of the patients following ECT. Conclusions:The present results showed that serum BDNF levels after ECT increased progressively in responders, but not in non-responders. Our results provide important information for understanding the exact role of BDNF in the antidepressive effects of ECT.
Purpose Glutamate is the most abundant neurotransmitter in the brain, and proton magnetic resonance spectroscopy (MRS) allows quantification of glutamate-related metabolites (glutamate/glutamine complex; Glx). In previous findings, Glx has been lower in several brain regions of patients with major depressive disorder than in those of healthy controls. However, the physiologic and characteristic distribution of Glx in the same individual remains unclear. We attempted to clarify which brain regions reflect changes associated with depression. Material and method We measured Glx in 12 patients with depression and 12 healthy controls matched for age and sex in three brain regions (left amygdala, left anterior cingulate cortex, and left dorsolateral prefrontal cortex), and then compared the physiologic and characteristic distribution of Glx between the two groups. Results In comparisons of the distributions, Glx was significantly higher in the amygdala than in other regions. Glx tended to be lower among the patients than the controls, although no significant differences were present between the groups. We could not detect the changes expected from major depressive disorder (reduced Glx) in the amygdala, which regulates emotions and shows higher concentrations of Glx than other regions. Conclusion Previous studies have suggested that the concentration of Glx decreases with age, and this might have influenced our results regarding changes with major depressive disorder. In addition, we could not clarify whether medications affected the patient condition, because treatment for depression increased Glx in previous studies. Further MRS studies are needed to clarify Glx distributions in the specific diagnosis of depression.
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