Journal of Clinical Neurology最新文献

Background and purpose: Functional neurological disorder (FND) is defined as the presence of neurological symptoms that are inconsistent with a neurological disease. We performed a single-center retrospective study aimed at determining the long-term outcome of FND patients receiving inpatient rehabilitation and the predictors of a good outcome.

Methods: A multidisciplinary graded exercise program was provided with one or two daily physiotherapy and occupational therapy sessions on 5 days each week, as well as weekly psychological support. Outcome was assessed using the motor part of the Functional Independence Measure scale (FIM; maximum score of 91) at admission, discharge, and follow-up, with the last assessment performed by phone interview.

Results: The 30 included patients were aged 43.6±14.7 years (mean±standard deviation), comprised 70% females, and received a mean of 4 weeks of rehabilitation. The admission FIM score (80.2±8.3) was significantly lower than the discharge FIM score (86.9±4.6; p<0.001, Wilcoxon signed-rank test). No notable difference was observed between discharge and follow-up FIM scores (85.5±8.5, p=0.54). The mean follow-up of the 36-month FIM scores at discharge and follow-up was dichotomized as a good outcome in cases where all items were scored ≥6 (functional independence). Binomial logistic regression showed that absence of a comorbid psychiatric disorder (p=0.039, odds ratio=10.7) was a predictive factor for a good outcome at follow-up. Other variables (e.g., sex and age) were not significant predictors of clinical outcome (all p≥0.058).

Conclusions: These results suggest inpatient intensive rehabilitation for motor FND is effective and produces favorable long-term results. Further studies with larger groups are warranted so that the management protocols can be standardized.

Background and purpose: Neonatal encephalopathy (NE) is a neurological syndrome that presents with severe neurological impairments and complications. Hypoxic-ischemic encephalopathy is a major contributor to poor outcomes, being responsible for 50%-80% of admissions to neonatal intensive care units. However, some cases of NE accompanied by hypoxic brain damage cannot be solely attributed to hypoxia-ischemia. We aimed to identify diverse pathogenic genetic variations that may be associated with cases of NE accompanied by hypoxic brain damage rather than hypoxia-ischemia.

Methods: We collected data from 34 patients diagnosed with NE accompanied by hypoxic brain damage over a 10-year period. Patients with the following specific conditions were excluded: 1) premature birth (<32 weeks), 2) no history of hypoxic events, 3) related anomalies, 4) neonatal infections, 5) antenatal or perinatal obstetrical complications, 6) severe hypoxia due to other medical conditions, and 7) early death (within 1 week). A comprehensive review of clinical and radiological features was conducted.

Results: A genetic diagnosis was made in 11 (32.4%) patients, with pathogenic variants being identified in the following 9 genes: CACNA1A (n=2), KCNQ2 (n=2), SCN2A (n=1), SCN8A (n=1), STXBP1 (n=1), NSD1 (n=1), PURA (n=1), ZBTB20 (n=1), and ENG (n=1). No specific treatment outcomes or clinical features other than preterm birth were associated with the results of the genetic analyses. Personalized treatments based on the results of genetic tests were attempted, such as the administration of sodium-channel blockers in patients with KCNQ2 or SCN8A variants and the implementation of a ketogenic diet in patients with STXBP1 or SCN2A mutations, which demonstrated some degree of effectiveness in these patients.

Conclusions: Genetic analyses may help in diagnosing the underlying etiology of NE and concurrent hypoxic brain damage, irrespective of the initial clinical features.

Background and purpose: Migraine is one of the most common chronic neurological diseases worldwide. Although diverse treatment regimens have been recommended, there is insufficient evidence for which treatment patterns to apply in routine clinical settings.

Methods: We used nationwide claims data from South Korea for 2015-2021 to identify incident migraine patients with at least one prescription for migraine. Patients were categorized according to their initial treatment classes and followed up from the date of treatment initiation. Treatment regimens included prophylactic treatments (antidepressants, anticonvulsants, beta blockers, calcium-channel blockers, and renin-angiotensin-aldosterone system [RAAS] inhibitors) and acute treatments (acetaminophen, antiemetics, aspirin, ergotamine, nonsteroidal anti-inflammatory drugs [NSAIDs], opioids, and triptans). The treatment patterns of migraine were evaluated until the end of the study period, including the secular trends, prevalence, persistence, and changes in migraine treatment.

Results: Among the 761,350 included patients who received migraine treatment, the most frequently prescribed acute treatment was an NSAID (69.9%), followed by acetaminophen (50.0%). The most-prescribed prophylactic treatment was flunarizine (36.9%), followed by propranolol (24.4%). Among the patients, 54.8% received acute treatment, 13.5% received prophylactic treatment, and 31.6% received both treatment types. However, 65.7% of the patients discontinued their treatment within 3 months. The 3-month persistence rate was highest for triptans (25.2%) among the acute treatments and for RAAS inhibitors (62.0%) among the prophylactic treatments.

Conclusions: While the prevalence rates of medication use were found to align with current migraine guidelines, frequent switching and rapid discontinuation of drugs were observed in routine clinical settings.

Background and purpose: There is extensive literature on monogenic epilepsies caused by mutations in familiar channelopathy genes such as SCN1A. However, information on other less-common channelopathy genes is scarce. This study aimed to explore the genetic and clinical characteristics of patients diagnosed with unusual voltage-gated sodium and potassium channelopathies related to epilepsy.

Methods: This observational, retrospective study analyzed pediatric patients with epilepsy who carried pathogenic variants of unusual voltage-gated sodium and potassium channelopathy genes responsible for seizure-associated phenotypes. Targeted next-generation sequencing (NGS) panel tests were performed between November 2016 and June 2022 at Severance Children's Hospital, Seoul, South Korea. Clinical characteristics and the treatment responses to different types of antiseizure medications were further analyzed according to different types of gene mutation.

Results: This study included 15 patients with the following unusual voltage-gated sodium and potassium channelopathy genes: SCN3A (n=1), SCN4A (n=1), KCNA1 (n=1), KCNA2 (n=4), KCNB1 (n=6), KCNC1 (n=1), and KCNMA1 (n=1). NGS-based genetic testing identified 13 missense mutations (87%), 1 splice-site variant (7%), and 1 copy-number variant (7%). Developmental and epileptic encephalopathy was diagnosed in nine (60%) patients. Seizure freedom was eventually achieved in eight (53%) patients, whereas seizures persisted in seven (47%) patients.

Conclusions: Our findings broaden the genotypic and phenotypic spectra of less-common voltage-gated sodium and potassium channelopathies associated with epilepsy.

Behavioral activation (BA) is a well-established method of evidence-based treatment for depression. There are clear links between the neural mechanisms underlying reward processing and BA treatment for depressive symptoms, including anhedonia; however, integrated interpretations of these two domains are lacking. Here we examine brain imaging studies involving BA treatments to investigate how changes in brain networks, including the reward networks, mediate the therapeutic effects of BA, and whether brain circuits are predictors of BA treatment responses. Increased activation of the prefrontal and subcortical regions associated with reward processing has been reported after BA treatment. Activation of these regions improves anhedonia. Conversely, some studies have found decreased activation of prefrontal regions after BA treatment in response to cognitive control stimuli in sad contexts, which indicates that the therapeutic mechanism of BA may involve disengagement from negative or sad contexts. Furthermore, the decrease in resting-state functional connectivity of the default-mode network after BA treatment appears to facilitate the ability to counteract depressive rumination, thereby promoting enjoyable and valuable activities. Conflicting results suggest that an intact neural response to rewards or defective reward functioning is predictive of the efficacy of BA treatments. Increasing the benefits of BA treatments requires identification of the unique individual characteristics determining which of these conflicting findings are relevant for the personalized treatment of each individual with depression.