Journal of Clinical Neurology最新文献

Background and purpose: Nonfluent variant primary progressive aphasia (nfvPPA) is a neurodegenerative disorder characterized by the progressive deterioration of language functions that typically appears with atrophy predominating in the left peri-insular region (left-nfvPPA) on imaging. While both left-dominant and right-dominant presentations have been reported in semantic variant primary progressive aphasia, the other language presentation of frontotemporal dementia, no case series of nfvPPA with predominantly right-sided atrophy of the peri-insular region (right-nfvPPA) have been reported previously. This study explored whether such entities exist and what their clinical features might be.

Methods: A retrospective review of brain imaging data obtained from an established cohort of patients diagnosed with nfvPPA was performed to identify right-nfvPPA cases, followed by detailed analyses of their clinical profiles and imaging results compared to matched typical left-nfvPPA cases and healthy control group.

Results: Four of 55 individuals meeting the consensus diagnostic criteria for nfvPPA demonstrated right-nfvPPA. No significant differences were noted in their clinical and neuropsychological profiles. Detailed imaging analyses demonstrated that the individuals with right-nfvPPA did not demonstrate atrophy of the anterior cingulate gyrus, unlike those in the left-nfvPPA group.

Conclusions: This study has revealed several intriguing differences between right-nfvPPA and left-nfvPPA, particularly in the prevalence of impairments in motor speech and naming as well as imaging differences. These findings warrant further exploration in a larger cohort to improve our understanding of neural network organization and its dysfunction in neurodegenerative disorders.

Background and purpose: To determine the clinical phenotypes, relapse timing, treatment responses, and outcomes of children with relapsing myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).

Methods: We collected the demographic, clinical, laboratory, and radiological data of patients aged <18 years who had been diagnosed with MOGAD at Seoul National University Children's Hospital between January 2010 and January 2022; 100 were identified as positive for MOG antibodies, 43 of whom experienced relapse.

Results: The median age at onset was 7 years (range 2-16 years). The median number of relapses was 2 (range 1-8), and patients were followed up for a median of 65 months (range 5-214 months). The first relapse was experienced before 3 months from onset by 15 patients (34.9%). The most-common initial phenotypes were acute disseminated encephalomyelitis (n=17, 39.5%) and optic neuritis (ON; n=11, 25.6%). The most-common relapse phenotypes were neuromyelitis optica spectrum disorder (n=9, 20.9%), relapsing ON (n=6, 14.0%), and multiphasic disseminated encephalomyelitis (n=6, 14.0%). Many of the patients (n=18, 41.9%) were not specifically categorized. A high proportion of these patients had non-acute disseminated encephalomyelitis encephalitis. Atypical phenotypes such as prolonged fever or hemiplegic migraine-like episodes were also noted. Mycophenolate mofetil and cyclic immunoglobulin treatment significantly reduced the annual relapse rates.

Conclusions: Our 43 pediatric patients with relapsing MOGAD showed a tendency toward early relapse and various relapse phenotypes. The overall prognoses of these patients were good regardless of phenotype or response to second-line immunosuppressant treatment.

Background and purpose: Obstructive sleep apnea (OSA) is associated with an increased risk of adverse outcomes, including mortality. Machine-learning algorithms have shown potential in predicting clinical outcomes in patients with OSA. This study aimed to develop and evaluate a machine-learning algorithm for predicting 10- and 15-year all-cause mortality in patients with OSA.

Methods: Patients with OSA were stratified into deceased and alive groups based on mortality outcomes. Various sleep-related features were analyzed, including objective sleep measures and the heart-rate variability during various sleep stages. The light gradient-boosting machine (LGBM) algorithm was employed to construct a risk-stratification model. The predictive performance of the model was assessed using the area under the receiver operating characteristic curve (AUC) for predicting mortality over 10 and 15 years. Survival analysis was conducted using Kaplan-Meier plots and Cox proportional-hazards model.

Results: This study found that parasympathetic activity was higher in OSA patients with worse outcomes than in those with better outcomes. The LGBM-based prediction model with sleep-related features was moderately accurate, with a mean AUC of 0.806 for predicting 10- and 15-year mortality. Furthermore, survival analysis demonstrated that LGBM could significantly distinguish the high- and low-risk groups, as evidenced by Kaplan-Meier plots and Cox regression results.

Conclusions: This study has confirmed the potential of sleep-related feature analysis and the LGBM algorithm for evaluating the mortality risk in OSA patients. The developed risk-stratification model offers an efficient and interpretable tool for clinicians that emphasizes the significance of patient-specific autonomic responses in mortality prediction. Incorporating survival analysis further validated the robustness of the model in predicting long-term outcomes.

Complications that occur during cancer therapy have emerged as a major contributor to the poor quality of life experienced by cancer patients as they live longer due to improved treatments. Many studies have investigated chemotherapy-induced peripheral neuropathy, but few have investigated the autonomic nervous system. Cardiovascular autonomic dysfunction (CAD) contributes to the distressing symptoms experienced by cancer patients, and it is also related to poor treatment outcomes. CAD has a multifactorial etiology in patients with cancer: it can be caused by the cancer itself, chemotherapy or radiation therapy, or other comorbidities. Its symptoms are nonspecific, and they include orthostatic hypotension, resting tachycardia, dizziness, chest tightness, and exertional dyspnea. It is important to suspect CAD and perform therapeutic interventions in a clinical context, because a patient who is more frail is less like to endure the treatment process. The quality of life of patients receiving active cancer treatments can be improved by evaluating the risk of CAD before and after chemotherapy, and combining both nonpharmacological and pharmacological management. Here we review the prevalence, pathogenesis, diagnosis, and treatment of CAD, which is the most common and a sometimes serious symptom in cancer patients.

This corrects the article on p. 454 in vol. 19, PMID: 37488957.

Background and purpose: Syncope is characterized by the temporary loss of consciousness and is commonly associated with migraine. However, the genetic factors that contribute to this association are not well understood. This study investigated the specific genetic loci that make patients with migraine more susceptible to syncope as well as the genetic factors contributing to syncope and migraine comorbidity in a Han Chinese population in Taiwan.

Methods: A genome-wide association study was applied to 1,724 patients with migraine who visited a tertiary hospital in Taiwan. The patients were genotyped using the Affymetrix Axiom Genome-Wide TWB 2.0 array and categorized into the following subgroups based on migraine type: episodic migraine, chronic migraine, migraine with aura, and migraine without aura. Multivariate regression analyses were used to assess the relationships between specific single-nucleotide polymorphisms (SNPs) and the clinical characteristics in patients with syncope and migraine comorbidity.

Results: In patients with migraine, SNPs were observed to be associated with syncope. In particular, the rs797384 SNP located in the intron region of LOC102724945 was associated with syncope in all patients with migraine. Additionally, four SNPs associated with syncope susceptibility were detected in the nonmigraine control group, and these SNPs differed from those in the migraine group, suggesting distinct underlying mechanisms. Furthermore, the rs797384 variant in the intron region of LOC102724945 was associated with the score on the Beck Depression Inventory.

Conclusions: The novel genetic loci identified in this study will improve our understanding of the genetic basis of syncope and migraine comorbidity.

Background and purpose: The estimated prevalence of hereditary transthyretin-related familial amyloid polyneuropathy (TTR-FAP) and the small number of known patients in Germany indicate that many patients with TTR-FAP remain undiagnosed, and may instead be classified as "idiopathic." The aim of this study was to identify biomarkers for detecting TTR-FAP among a cohort of patients with idiopathic polyneuropathy (PNP).

Methods: Clinical evaluations (including the Neuropathy Impairment Score and Neuropathy Disability Score), nerve conduction studies (NCSs), quantitative sensory testing, and autonomic function tests were performed on 23 patients with TTR-FAP and 89 with idiopathic PNP. Discriminant analysis was then performed to identify variables useful for predicting TTR-FAP.

Results: Patients with TTR-FAP had paresis of the finger and thumb muscles, and reduced vibration perception and increased pressure pain in the upper and lower extremities. The NCSs showed that action potentials were smaller in the median, ulnar (both motor and sensory), and sural nerves in TTR-FAP. The sensory nerve conduction velocity was also reduced in the ulnar nerve. Autonomic neuropathy was confirmed by reduced sympathetic skin responses in the hands and feet in TTR-FAP. Multivariate discriminant analysis revealed that finger abduction strength, sensory ulnar nerve action potential amplitude, and vibration detection and pressure pain thresholds in the upper extremities were sufficient to correctly identify TTR-FAP in 81.3% of cases.

Conclusions: Detailed clinical and neurophysiological investigations of standard parameters in the upper limb may help to identify the otherwise-rare TTR-FAP.