Nevra Öksüz

Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of inherited disorders caused by genetic defects affecting neuromuscular junction transmission. Clinical manifestations range from isolated ocular symptoms to severe neonatal respiratory insufficiency. Despite symptom onset early in life, CMS is frequently underdiagnosed or misdiagnosed, most commonly as myasthenia gravis (MG), leading to prolonged diagnostic delay. We report a young woman with fluctuating muscle weakness and eyelid drooping since early childhood who had been followed for years with a diagnosis of seronegative MG. In adulthood, genetic analysis identified a homozygous nonsense mutation in the CHRNE gene, establishing the diagnosis of CMS. This case highlights the diagnostic challenges posed by CMS due to its clinical overlap with MG and emphasizes the critical role of genetic testing in patients with seronegative, treatment-resistant neuromuscular weakness.

Background: Migraine, including vestibular migraine (VM), is a complex neurological disorder with diverse symptoms. VM is primarily characterized by vertigo attacks, while episodic migraine (EM) is more associated with headache features. This study aims to identify the distinguishing characteristics and comorbidities of VM and EM. Methods: A retrospective analysis was conducted using databases from Mersin University and Brain 360 Integrative Brain Health Center, encompassing 333 patients (248 EM, 85 VM) diagnosed according to the International Classification of Headache Disorders, 3rd edition (ICHD-3) criteria between 2021 and 2023 to examine various migraine features and comorbidities. Results: Both EM and VM were predominantly observed in women with similar age distributions. EM patients exhibited significantly longer symptom duration and higher frequencies of nausea, photophobia, and phonophobia (p<0.05). No significant differences were found in vomiting, osmophobia and allodynia rates (p=0.147, p=0.109, p=0.822), while motion sickness was more prevalent in EM (p<0.05). EM patients also showed greater prevalence of migraine family history, menstrual associations, metabolic syndromes, and fibromyalgia (p<0.05). Although headache severity was similar, EM attacks lasted longer. Sleep disorders and medication overuses were more common among EM patients (p<0.05). EM patients reported more sleep disorders, medication overuse, and emotional stress, while dizziness was more common in VM patients (p<0.05). Conclusions: Migraine-like features and comorbidities are generally more prevalent and diverse in EM patients, revealing a distinct pattern compared to VM patients. These findings suggest a broader spectrum of VM symptoms beyond current diagnostic criteria, highlighting the need for more comprehensive longitudinal studies.

Erratum to “Premonitory Symptoms in Migraine: Implications for Disease Burden and Cognitive Impairment, with Some Promising Answers”

Purpose: This study evaluated the prevalence and impact of premonitory symptoms (PS) in people with migraine, assessing their influence on disability, cognitive function, and quality of life. Methods: In a cross-sectional analysis at Mersin University Hospital, 186 migraine patients were interviewed to identify the presence of PS, using a structured questionnaire that included measures of disability (Migraine Disability Assessment Scale or MIDAS), quality of life (European Health Impact Scale or EUROHIS-8), and cognition (Migraine Attack Related Subjective Cognitive Scale or Mig-SCOG). Statistical analyses included descriptive statistics, the t-test, and the Mann-Whitney U-test, with a significance threshold set at p<0.05. Results: Among participants, 74.7% reported one or more PS, with the most common being neck stiffness (64.7%), photophobia (56.8%), fatigue (52.8%), and phonophobia (50.3%). Patients with PS demonstrated significantly lower quality of life scores (EUROHIS-8, p<0.001) and higher cognitive impairment scores (Mig-SCOG, p<0.001) than those without PS, despite similar levels of migraine disability (MIDAS, p=0.050). Conclusion: The high prevalence of PS in people with migraine and their association with greater cognitive impairment and reduced quality of life indicate that more targeted interventions are necessary in this subgroup. PS may be either a driver of cognitive and quality of life burden or just a marker of it, and disambiguating these possibilities will be a critical area for future research and clinical focus. More optimized and standardized prospective studies are needed to clarify the prevalence of PS.

Background/aim: Migraine is a prevalent neurological disorder that can lead to disability in children and adolescents. It is frequently accompanied by psychiatric comorbidities, both internalizing and externalizing disorders. While the relationship between migraine and internalizing disorders has been studied, there is limited research on the link between migraine and attention deficit hyperactivity disorder (ADHD).Materials and methods: A total of 280 pediatric headache patients, 107 with externalizing (ADHD) and 173 with internalizing disorders (depression and/or anxiety), were included. The dataset was composed using the Turkish headache database, Mersin Branch. Pain characteristics, associated symptoms, and accompanying comorbidities were evaluated retrospectively.Results: Two hundred four patients were followed up with episodic migraine (EM) and 76 patients with chronic migraine (CM). One hundred forty-six boys and 134 girls were evaluated, and internalizing disorders were more common in the girls (p < 0.001). It was a much more prominent accompaniment in chronic migraine internalizing disorders (p = 0.038). EM, on the other hand, was more frequent in ADHD. Pain intensity and frequency were greater in those with internalizing disorders (p = 0.007), while photophobia was more prevalent in those with ADHD (OR; 0.555, p = 0.044). Moreover, we observed that individuals with internalizing disorders were predominantly female (p = 0.003) and had a higher mean age (p < 0.001) than those with externalizing disorders.Conclusion: Internalizing disorders seem to be a risk factor for migraine chronification in pediatric migraine. ADHD is a prototypic externalizing disorder more associated with EM. This outcome provides an opportunity to follow our patients in terms of prognosis and offers us the chance for a better evaluation. Identifying factors that contribute to the chronicity of migraine may lead to better management and reduced disability for migraine sufferers.

Progressive supranuclear palsy (PSP); is a neurodegenerative disorder involved in atypical parkinsonism syndromes. The classical clinical presentation is postural instability, falls, downward paralysis, frontal dementia, and symmetric akinetic-rigid parkinsonism. The atrophy of the mesencephalon in magnetic resonance imaging (MRI) is an important marker in diagnosing the disease. Recently, a few PSP cases reported the “eye of the tiger” sign on MRI. The “eye of the tiger” sign, in globus pallidus, is a sign that bilaterally symmetrically located low signal intensity and central longitudinal hyperintensity are observed. While previously a specific finding for the pantothenate kinase-associated neurodegeneration (PKAN), it is no longer considered specific because of the reported cases of non-PKAN with the “eye of the tiger” sign such as neuropherritinopathy, multi-system atrophy, corticobasal degeneration. In this report, we aimed to contribute to the literature by presenting two PSP cases in which the “eye of the tiger” sign was observed.

This study aimed to elucidate the long-term progression of mild cognitive impairment (MCI) within a comprehensive longitudinal dataset, distinguish it from healthy aging, explore the influence of a dementia subtype on this progression, and identify potential contributing factors. Patients with prodromal and preclinical cases underwent regular neuropsychological assessments utilizing various tools. The study included a total of 140 participants with MCI, categorized into Alzheimer’s disease (AD) and non-AD subtypes. Our dataset revealed an overall progression rate of 92.8% from MCI to the clinical stage of dementia during the follow-up period, with an annual rate of 15.7%. Notably, all prodromal cases of Lewy body dementia/Parkinson’s disease (LBD/PDD) and frontotemporal dementia (FTD) advanced to clinical stages, whereas 7% of vascular dementia (VaD) cases and 8.4% of AD cases remained in the prodromal stage throughout follow-up. Furthermore, we observed a faster progression rate in MCI-AD cases compared to non-AD sufferers (53.9% vs. 35.5%, Entropy: 0.850). This study revealed significant cognitive changes in individuals with MCI over time. The mini-mental state examination (MMSE), global deterioration scale (GDS), and calculation tests were the most effective tests for evaluation of MCI. These findings may offer valuable insights for the development of personalized interventions and management strategies for individuals with MCI.