Neurological Sciences最新文献

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.

Introduction: Nocturnal hypokinesia (NH) (i.e., reduced bed mobility) is common in people with Parkinson's Disease (PwPD), significantly affecting sleep quality. Physiotherapy showed encouraging results to treat this symptom but was poorly investigated. Moreover, telerehabilitation could be useful to increase treatment capillarity and to overcome logistic limitations. In this pilot study we investigated preliminary feasibility, safety and effectiveness of a telerehabilitation program in mild-to-moderate PwPD with NH.

Materials and methods: Sixteen PwPD with disease stage < 4, presence of NH and no cognitive impairment, were enrolled and 12 completed the study. Participants underwent a 6-week telerehabilitation program though a digital remote video call platform. The rehabilitation program included progressive exercises performed during both remote supervised sessions with a physiotherapist and self-conducted sessions through video-tutorials. PwPD were evaluated before (T0) and after the program (T1) using the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) parts I-IV, Parkinson's disease questionnaire 39 (PDQ-39), Parkinson's Disease sleep Scale (PDSS2), Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS) and Nocturnal Hypokinesia Questionnaire (NHQ).

Results: Dropout rate was 25%. We found a significant improvement in PSQI score (p = 0.039, median difference: 2) and in item 2.9 of the MDS-UPDRS part II assessing NH (p = 0.026; median difference: 1). A tendency toward significance was found in NHQ score (p = 0.069). No significant adverse events were reported during treatment.

Conclusion: Our pilot study showed that telerehabilitation could be a feasible, safe and effective option to improve NH and sleep quality in mild-to-moderate PwPD.

Introduction: The percentage of women neurologists is steadily increasing globally. Nevertheless women still face lower and slower levels of career progression and are less likely to reach leadership positions. In order to obtain a better understanding of the gender gap in the area of neurology in Italy, the Gender Equality Committee of the Italian Society of Neurology (SIN) conducted a survey among the society members.

Methods: Members of the SIN were invited to complete an anonymous online survey. The questions were grouped into different sections covering work environment, research, academic career, scientific societies, work/life balance and gender equality perception. The questions were structured using Likert-type scales.

Results: A total of 237 subjects (64.1% women; mean age 42.5 ± 13.6 years), representing 6.4% of the SIN members, participated in the survey. A significantly higher percentage (p < 0.0001) of women than men reported that gender influences career progression (51.5% vs 5%), academic career (91.8% vs 57.1%), access to research facilities (37.5% vs 17.1%), authorship of scientific articles (34.2% vs 8.6%), selection of contributions and speakers within scientific societies (37.9% vs 16.2%), and work-life balance (76% vs 37.5%). Overall, women felt that gender equality was poor in all the different sections.

Conclusions: In Italy women neurologists face a wide range of gender disparities affecting their professional and personal lives in the hospital and academic settings. Even if the low response rate could have affected the results, improving gender equality should be a priority in the near future.