Neurological Sciences最新文献

Introduction: Multiple sclerosis (MS) is a chronic, disabling neurodegenerative disease, leads to reduced quality of life. The increasing prevalence of MS around the world and its comorbidities increase its burden. Primary vasculitis subtypes, one of autoimmune diseases with different prevalence in different ages and genders, should be considered one of the important differential diagnosis in patients with MS. This study aims to verify the relationship between MS and primary vasculitis by conducting a systematic review.

Method: We searched PubMed, Scopus, EMBASE, Web of Science, and Google Scholar, from January 1974 to July 2023. We included original articles that reported characteristics of patients involved with any type of Primary Vasculitis with MS.

Result: From an initial 816 publications, 18 studies consisting of 18 individual patients from 14 countries with confirmed MS and one of different subtypes of primary vasculitis met the inclusion criteria. The female/male ratio was 0.38:1, the mean (SD) age was 40.44 (14.37) years with the range of 16 to 70 years old, and the relapsing/progressive ratio was 1.57:1. Most of them, 14 (77%) experienced MS before vasculitis, and mostly received Corticosteroids, interferon, cyclophosphamide, Glatiramer acetate as MS treatment. The concurrence of Takayasu Arteritis (2 cases), Polyarteritis Nodosa (2 cases), Churg-Strauss Syndrome (1 case), Wegener's Granulomatosis (2 cases), Microscopic Polyangiitis (1 case), Cutaneous leukocytoclastic vasculitis (5 cases), Good pasture's disease (5 cases) were reported with MS.

Conclusion: Our study suggested that different primary vasculitis can be an important comorbidity of MS and can mimic its symptoms and MRI. Any atypical syndrome for PwMS, whether clinical or radiological, must be evaluated in terms of other differential diagnoses including vasculitis.

Telerehabilitation has been suggested to be equally effective than in-person rehabilitation, and could be helpful to increase participation and reduce barriers. People with multiple sclerosis (MS) often present urogenital dysfunctions, impairing independence and quality of life (QoL). Since the different available telerehabilitation protocols, the present study aimed to compare a live video urogenital rehabilitation intervention protocol (REMOTE) with a home-based pre-recorded video protocol (SELF). A randomized-controlled trial was performed, with 14 females with MS being allocated in the REMOTE group (36 ± 9 y) and 14 females in the SELF group (37 ± 7 y). Both telerehabilitation protocols were identical in terms of contents (including pelvic floor training and relaxation exercises), frequency and duration, consisting of 10 sessions of 45 min each, every 5 days. Questionnaires were administered at the beginning and the end of the study: Short Form Health Survey 36 (SF-36), Beck Depression Inventory (BDI), Female Sexual Function Index (FSFI), International Consultation on Incontinence Questionnaire (ICIQ) symptoms and related QoL, the main outcome being ICIQ incontinence score. Despite most of the outcomes improved in both groups, REMOTE was found to be more effective than SELF in most of the SF-36 domains (from p < 0.001 pη² 0.555 to p = 0.044 pη² 0.147), FSFI (p = 0.001 pη² 0.373), ICIQ (p = 0.003 pη² 0.291). Despite the home-based pre-recorded videos could be effective in improving urogenital symptoms, live video urogenital rehabilitation results in larger improvements. Telerehabilitation should be encouraged for urogenital dysfunctions in females with MS, and pre-recorded videos could represent an alternative when live sessions are not available. Clinical trial registration This randomized controlled trial was registered on ClinicalTrials.gov with the number NCT05984095.

Background and aims: Charcot-Marie-Tooth (CMT) is a heterogeneous group of genetic neuropathies and is typically characterized by distal muscle weakness, sensory loss, pes cavus and areflexia. Herein we describe a case of CMT2CC presenting with proximal muscle weakness and equivocal electrophysiological features, that was misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP).

Case report: A 30-year-old woman complained of proximal muscle weakness with difficulty climbing stairs. Neurological examination showed weakness in lower limb (LL) muscles, that was marked proximally and mild distally, and absence of deep tendon reflexes in the ankles. Nerve conduction studies (NCS) showed sensory-motor neuropathy with non-uniform NC velocity and a partial conduction block (CBs) in peroneal nerve and tibial nerves. Thus, a diagnosis of CIDP was entertained and the patient underwent ineffective treatment with intravenous immunoglobulins. At electrophysiological revaluation CB in peroneal nerve was undetectable as also distal CMAP had decreased whereas the CBs persisted in tibial nerves. Hypothesizing a hereditary neuropathy, we examined the proband's son, who presented mild weakness of distal and proximal muscles at lower limbs. Neurophysiological investigation showed findings consistent with an intermediate-axonal electrophysiological pattern. A targeted-NGS including 136 CMT genes showed the heterozygous frameshift mutation (c.3057dupG; p.K1020fs*43) in the NEFH gene, coding for the neurofilament heavy chain and causing CMT2CC.

Interpretation: Diagnosis of a genetic neuropathy may be challenging when clinical features are atypical and/or electrophysiological features are misleading. The most common misdiagnosis is CIDP. Our report suggests that also CMT2CC patients with proximal muscle weakness and equivocal electrophysiological features might be misdiagnosed as CIDP.

Background: Various machine learning (ML) models based on resting-state functional MRI (Rs-fMRI) have been developed to facilitate differential diagnosis of mild cognitive impairment (MCI) and Alzheimer's disease (AD). However, the diagnostic accuracy of such models remains understudied. Therefore, we conducted this systematic review and meta-analysis to explore the diagnostic accuracy of Rs-fMRI-based radiomics in differentiating MCI from AD.

Methods: PubMed, Embase, Cochrane, and Web of Science were searched from inception up to February 8, 2024, to identify relevant studies. Meta-analysis was conducted using a bivariate mixed-effects model, and sub-group analyses were carried out by the types of ML tasks (binary classification and multi-class classification tasks).

Findings: In total, 23 studies, comprising 5,554 participants were enrolled in the study. In the binary classification tasks (twenty studies), the diagnostic accuracy of the ML model for AD was 0.99 (95%CI: 0.34 ~ 1.00), with a sensitivity of 0.94 (95%CI: 0.89 ~ 0.97) and a specificity of 0.98 (95%CI: 0.95 ~ 1.00). In the multi-class classification tasks (six studies), the diagnostic accuracy of the ML model was 0.98 (95%CI: 0.98 ~ 0.99) for NC, 0.96 (95%CI: 0.96 ~ 0.96) for early mild cognitive impairment (EMCI), 0.97 (95%CI: 0.96 ~ 0.97) for late mild cognitive impairment (LMCI), and 0.95 (95%CI: 0.95 ~ 0.95) for AD.

Conclusions: The Rs-fMRI-based ML model can be adapted to multi-class classification tasks. Therefore, multi-center studies with large samples are needed to develop intelligent application tools to promote the development of intelligent ML models for disease diagnosis.

Background: Neuronal ceroid lipofuscinoses are a genetically heterogeneous group of inherited lysosomal storage disorders. Kufs disease is the predominant form of neuronal ceroid lipofuscinosis in adults, but it's rare and challenging to diagnose.

Case description: The proband initially presented with cognitive deterioration and parkinsonian traits. At 35, he was admitted to hospital following a tonic-clonic seizure. Brain magnetic resonance imaging showed atrophy of the cerebral cortex and cerebellum, enlarged ventricles, and thinned corpus callosum. The proband's younger brother and sister were also affected, and the clinical phenotype within the family was consistent. Whole-exome Sequencing of the proband revealed a novel homozygous mutation in CLN6 (NM_017882: c.425A > G, p. Tyr142Cys). Co-segregation analysis revealed that two other affected individuals carried a homozygous mutation at the same locus, with both parents exhibiting heterozygous mutations of c.425A > G.

Conclusion: Our study not only provides insights into the clinical presentation and development of the disease within the affected family but also expanded the mutational and phenotypical spectrum of the CLN6 gene.

Background: Mild cognitive impairment (MCI) is a syndrome with heterogeneous underlying causes and different rates of disease progression, whose clinical heterogeneity leads to a wide variation in diagnostic and therapeutic approaches in clinical practice. The lack of uniform practical recommendations on diagnostic workup and treatment for MCI patients hinders optimal management of these patients, worsening their prognosis. Standardized guidelines for the investigation and follow-up of MCI are therefore urgently required.

Aim: Aim of our study was to assess the diagnostic and therapeutic approach to MCI patients in the setting of Italian Memory Clinics.

Methods: A survey was delivered to a sample of Italian neurologists through two different phases: a first exploratory phase recording general information about the usual clinical management of patients with MCI, and a subsequent operative phase assessing the practical diagnostic and therapeutic decisions taken in a real life setting to manage subjects with MCI.

Results: A total of 121 neurologists participated to the first phase of the survey and 203 patients were enrolled in the second phase. Information gathered in the first phase of the survey highlighted a non-uniform use of diagnostic criteria and procedures for MCI, as well as a very heterogeneous therapeutic strategy among Italian neurologists. In the second phase, recorded data on diagnostic and therapeutic approach confirmed the large variability observed in the first phase of the survey.

Conclusions: The results of our study reflect a suboptimal management of MCI patients in Italy and highlight the need of standardized diagnostic and therapeutic approaches for this condition.