Neurological Sciences最新文献

Background: Lesbian, gay, bisexual, transgender and queer (LGBTQ) persons may be defined under the umbrella term sexual and gender minorities (SGM). SGM often experience disparities in access to care negatively impacting their health outcomes. Aim of the study was to assess knowledge, attitude and practical experience of neurologists associated with European Academy of Neurology (EAN) in caring for SGM patients.

Materials and methods: The study has been conducted amongst EAN neurologists using a 29 Likert-type questions survey (from "strongly disagree" to "strongly agree") exploring the knowledge, attitudes and practices towards SGM patients. The survey was distributed via mail to all 3410 EAN members, from June to October 2024.

Results: Overall, 171 respondents gave the consent to participate, with almost 73% responding to each question. 133 out of 171 respondents declared their sex assigned at birth (76 women, 57.1%; mean age 43.2 ± 13.0 years). Considering knowledge, almost 75% felt comfortable explaining differences between sexual orientation and gender identity. A low percentage (2.9% and 6.4%, respectively), was aware that LGBTQ individuals could experience disproportionate levels of physical and mental health problems compared to heterosexual and cisgender individuals. A large majority of participants reported insufficient training to work with LGBTQ and almost 70% declared interest in receiving further training on providing appropriate care to SGM persons.

Conclusion: Most of the European neurologists were aware of the limits in providing healthcare to SGM recognizing the importance of training and education in approach and treat SGM patients in order to provide high-quality neurological care.

Introduction: Linked to motor control, cerebellum is increasingly recognized for its role in cognition and neurodegenerative disorders.

Methods: This retrospective study investigates associations between cerebellar volumes and cognitive screening tools-the Mini-Mental State Examination (MMSE) and the Montreal Cognitive Assessment (MoCA)-in individuals with mild cognitive impairment (MCI) or mild dementia.

Results: MoCA scores showed significant positive correlations with cognitive-related cerebellar regions, particularly the left Crus I lobule (r = 0.40, p = 0.02) and total Crus I volume (r = 0.36, p = 0.04). Regression analysis confirmed associations with the left Crus I (β = 0.08, p = 0.02) and right VIIB lobule (β = 0.033, p = 0.032), while MMSE scores correlated only with right Lobule X thickness (r = -0.35, p = 0.04).

Discussion: These findings suggest MoCA may better detect cerebellar-related cognitive impairments, underscoring the importance of including cerebellar evaluation in the early diagnosis of dementia.

Background: 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is an autosomal recessive metabolic disorder caused by biallelic pathogenic variants in the MTHFR gene. Although clinical heterogeneity is well recognized, the condition rarely presents as spastic paraplegia with onset in adulthood. We report a case associated with two novel MTHFR pathogenic variants manifesting this clinical phenotype.

Methods: We describe a 45-year-old Chinese man who developed a spastic gait at age 38, followed by lower limb weakness at age 43. Brain magnetic resonance imaging revealed mild leukoencephalopathy. Laboratory tests identified severe hyperhomocysteinemia. Whole-exome sequencing was performed with screening of genes associated with hereditary spastic paraplegia. Furthermore, a comprehensive literature review was conducted, including all adult-onset cases with detailed clinical and genetic information available up to October 2025.

Results: Genetic analysis identified three MTHFR variants: c.891T > A (p.Tyr297Ter), c.1916 C > T (p.Thr639Ile), and c.665 C > T (p.Ala222Val). A total of 28 patients from 17 families were identified through the literature review.

Conclusion: This study expands the spectrum of pathogenic MTHFR variants and highlights the phenotypic heterogeneity of the disorder. MTHFR deficiency represents a rare yet treatable metabolic cause of spastic paraplegia and should be considered in its diagnostic workup.

Moyamoya syndrome (MMS) represents a rare and still under-recognized cause of juvenile ischemic stroke in European populations. We describe the clinical and neuroradiological features of a caucasian adult affected with Trisomy 21 presenting with an ischemic stroke and finally diagnosed with MMS in addition to persistent trigeminal artery.

Background: Neuronal intranuclear inclusion disease (NIID) shows clinical heterogeneity. The understanding of clinical and imaging features of stroke-like NIID episodes remains insufficient, leading to delayed diagnosis.

Methods: We present a case of NIID which initially manifested with stroke-mimicking onset. We consequently conducted a comprehensive literature review of similar NIID cases to characterize their clinical and radiological features.

Results: We present the case of a 66-year-old woman admitted with dizziness and speech impairment lasting 1 day. MRI revealed subtle diffusion restriction at the corticomedullary junction. Initially, acute ischemic stroke was considered, and antiplatelet, cerebral circulation improvement, and neurotrophic therapies administered. NOTCH2NLC gene testing revealed 104 GGC repeats in the 5'UTR region, and skin pathology demonstrated intranuclear inclusions, culminating in an NIID diagnosis. A subsequent literature review of stroke-like onset in patients with NIID revealed a mean onset and diagnostic age of 59.07 ± 9.86 and 63.97 ± 9.69 years, respectively. The most common clinical symptoms included speech disorder, limb weakness, cognitive dysfunction, and consciousness disorder. Almost all patients showed diffusion restriction at the corticomedullary junction. The patient's NOTCH2NLC gene test revealed 66-146 GGC sequence repeats. Follow-up revealed that 60.87% of patients recovered to pre-onset status.

Conclusions: Patients with stroke-mimicking onset NIID typically wait a considerable amount of time for a definitive diagnosis, and are prone to being misdiagnosed with stroke. The majority of MRIs demonstrate variable degrees of diffusion restriction at the corticomedullary junction, and care should be taken to avoid being overlooked in images with subtle diffusion signals.

Background: Considering the multifactorial nature of fall risk, the trunk-which plays a critical role in balance-should also be assessed.

Objective: This study aimed to determine the cut-off values of the Trunk Impairment Scale (TIS) for predicting fall risk in patients with Multiple Sclerosis (PwMS).

Methods: This a cross-sectional study included 141 PwMS. Fall history was obtained through subjective self-report and recorded. Trunk control was assessed using the TIS, and disability level was evaluated using the Kurtzke Expanded Disability Status Scale (EDSS).

Results: A total of 46.8% of participants reported a history of falls. The median TIS score was 16.50 in the fallers and 21.00 in the non-fallers. The cut-off value of TIS for identifying fall risk in PwMS was determined to be 19.50 (AUC = 0.804, 95% CI: 0.731-0.877, p < 0.001).

Conclusion: In conclusion, TIS demonstrated moderate sensitivity and specificity in predicting fall risk. Given the complex and multifactorial etiology of falls, trunk assessment should be considered an essential component of comprehensive fall risk evaluation in PwMS.

Objective: The widespread use of botulinum toxin has been accompanied by an increase in complications, including iatrogenic botulism (IB). This study investigated repetitive nerve stimulation (RNS) findings in IB and myasthenia gravis (MG) patients.

Methods: Clinical and neurophysiological data were retrospectively reviewed in IB patients negative for both acetylcholine receptor and muscle-specific kinase antibodies, and in MG patients who were positive for either. RNS was performed on the ulnar nerve at 2, 3, 5, and 50 Hz, and on the facial and spinal accessory nerves at 2, 3, and 5 Hz.

Results: Fifteen IB and 23 MG patients were included. Compound muscle action potential (CMAP) amplitudes of the ulnar and facial nerves were lower in IB (p = 0.014, p = 0.006). A progressive decrement at low-frequency RNS occurred in 60% of IB and 17% of MG patients. At 5 Hz facial RNS, 1st-2nd (p = 0.044) and 1st-4th (p = 0.008) decrements were greater in MG, whereas the 4th-10th decrement was higher in IB (p = 0.031). Ulnar CMAP changes at 50 Hz were greater in IB (p < 0.001); nine patients showed increments > 40%, four > 60%, and one > 100%, while none of the MG patients exceeded 40%.

Conclusion: Reduced CMAP amplitude, an incremental response at high frequency, and a progressive decrement at low frequency were more commonly encountered in IB. In MG, a U-shaped pattern at low frequency and a more pronounced decrement between the 1st and 2nd responses were noted.