This study aimed at assessing the applicability of a symptom-led staging system for primary progressive aphasia (PPA) based on retrospective medical records, as well as at exploring their demographic and clinical correlates.
75 PPA patients (10 semantic, 28 non-fluent, 22 logopenic, and 16 mixed variants) were retrospectively staged according to the PPA Progression Planning Aid (PPA-Squared) system, which stages the disease by accounting for clinical features along three axes: (1) Communication; (2) Non-Verbal Thinking and Personality; (3) Personal Care and Well-Being. The percentage of successfully staged patients was computed. The association between PPA-Squared scores and demographic and clinical data was tested via non-parametric tests. The predictive capability of PPA-Squared scores towards survival was explored via a Mantel-Cox test.
89.3% of patients were successfully staged based on retrospective medical records. The PPA-Squared was associated with the MMSE (p < 0.001), ADL (p = 0.021), and IADL scores (p < 0.001) and a set of second-level cognitive measures tapping on attention, executive functions, language, long-term memory, and visuo-spatial abilities (p ≤ 0.049). No association was found between the PPA-Squared and demographic features, symptom duration, PPA phenotype, the presence of motor involvement, and survival.
The PPA-Squared is a feasible and clinically valid tool for staging PPA patients based on their cognitive and functional status.
Cerebrospinal fluid (CSF) analysis is key to diagnosing multiple sclerosis (MS). In particular, the presence of CSF-specific oligoclonal bands (OCB) is examined alongside differential diagnostic aspects. This study aims to investigate the diagnostic value of OCB in MS compared to other neurological disorders.
Patients who presented to the Department of Neurology of the Medical University of Vienna between January 1, 2004 and December 31, 2020, due to neurological complaints and underwent lumbar puncture (LP) for diagnostic purposes were included in this retrospective analysis. Exclusion criteria were incomplete laboratory data and/or a missing final diagnosis.
Of 5744 patients who underwent LP, 5225 were available for analysis. Of these, 745 (14.3%) were diagnosed with MS, whereby CSF-specific OCB showed a sensitivity of 92.8% and a specificity of 90.4%. While the positive predictive value (PPV) was merely 61.5%, the negative predictive value (NPV) yielded 98.7%. In comparison, OCB displayed low sensitivity rates for most other neurological disease groups. Of note, neuroborreliosis (n = 66) had a relatively high OCB positive rate of 70%, followed by CNS human immunodeficiency virus infections (n = 32) with 62.5%.
CSF-specific OCB have a high sensitivity and specificity and a very high NPV for diagnosing MS. However, the PPV was lower in this cohort. These findings must be carefully considered when diagnosing MS and interpreting OCB, especially in the context of differential diagnostic workup.
Epidemiological studies on amyotrophic lateral sclerosis (ALS) in Greece are scarce and outdated.
We performed an observational cohort study in 11 specialized centres across Greece. Adult individuals with ALS diagnosed based on the Gold Coast criteria were recruited. Data were collected on socio-demographics, somatometrics, comorbidities, early life exposures, disease-related parameters, riluzole intake, motor and non-motor symptoms, as well as functional progression. Follow-up evaluations were scheduled on approximately 6–9–12–18–24 months. Our aim was to identify shortcomings in the monitoring of patients with ALS in specialized centers, delineate the course of the disease, and capture factors related to the earlier occurrence of ALS and potential diagnostic delays.
A total of 229 ALS patients were included in the present registry. The average age of diagnosis was 63.7 years, with an average 12.8-month interval between symptom onset and diagnosis. The presence of bulbar symptoms at onset was associated with shorter diagnostic delays. Systematic physical exercise was strongly linked to the earlier onset of symptoms. Disease progression was slower during the prediagnostic stage, more precipitous over the first year following diagnosis, and milder thereafter (~1-point monthly decline in ALSFRS-R on average, post-diagnosis). The majority of associated motor and non-motor symptoms accumulated over time. The overwhelming majority of patients were prescribed the liquid form of riluzole, which exhibited an excellent tolerability profile. Greek islands are probably the most underprivileged in terms of specialized monitoring of ALS cases.
The present observational cohort study mapped key aspects and shortcomings of ALS management in Greece.
This post hoc analysis examined the reduction in monthly headache days (MHDs) by frequency category shifts and associated improvements following eptinezumab treatment.
The DELIVER trial evaluated eptinezumab in adults with migraine for whom 2–4 previous preventive treatments failed. During a 24-week, double-blind, placebo-controlled period followed by a 48-week extension period, participants received IV eptinezumab 100 mg, 300 mg, or placebo every 12 weeks, with all receiving eptinezumab beginning Week 25 (dose-blinded). Participants were categorized by MHD frequency: > 14, 8–14, 4 to < 8, 1 to < 4, 0. MHD category shifts were evaluated in the total population and several subgroups (including participants with > 14 baseline MHDs and early ≥ 50% responders). In participants reporting < 8 MHDs after all doses, the associated changes in headache intensity and disease status were evaluated.
Of randomized participants, 88% (782/890) completed the trial. The percentage of participants randomized initially to eptinezumab who reported < 4 MHDs was 23% (138/592) over Weeks 1–12 and 47% (236/498) over Weeks 61–72; 9% reported 0 MHDs after the final dose. Of participants randomized initially to eptinezumab who shifted from ≥ 8 MHDs at baseline to < 8 over Weeks 1–12, 71% (170/241) reported < 8 MHDs for the rest of the trial; of those who shifted from > 14 to < 8 MHDs, 66% (49/74) reported < 8 MHDs for the rest of the trial. Reduction to < 8 MHDs was associated with robust improvements in headache intensity and disease burden.
Eptinezumab was associated with sustained reduction in MHD category, with some achieving headache/migraine freedom in patients with a history of preventive treatments that failed.
ClinicalTrials.gov (identifier: NCT04418765; https://www.clinicaltrials.gov/ct2/show/NCT04418765) and EudraCT (identifier: 2019-004497-25; https://www.clinicaltrialsregister.eu/ctr-search/search?query=2019-004497-25)
In patients with giant cell arteritis (GCA), 2.8%–8.2% present with ischemic stroke (IS) or transient ischemic attack (TIA). GCA diagnosis may be overlooked, and immunosuppressive treatment delayed if typical symptoms are absent or if a common cause of IS coexists. This study aimed to identify potential markers of GCA through clinical evaluation and baseline investigation of IS/TIA patients.
Two authors independently conducted a scoping review using MEDLINE and EMBASE databases to identify patients diagnosed with GCA after presenting with IS/TIA. All articles, including the gray literature, were considered from January 2000 onwards if individualized data were described. Only cases of IS/TIA with GCA later diagnosed as the etiology were included for analysis.
A total of 101 publications were included, pooling data on 141 patients for analysis. The mean age was 73.6 years, and 61 were women. Patients experienced either single (56.0%) or multiple IS/TIA events (44.0%). Associated symptoms included GCA-related pain, such as headaches (50.4%), constitutional symptoms (47.5%), and temporal artery inflammation (27.0%). Neurological deficits involved corticospinal tracts (41.8%), and cerebellar functions (53.2%). Most patients had clinical or radiological evidence of vertebrobasilar involvement (83.7%). Multifocal involvement of the vertebrobasilar and carotid territories was supported when combining clinical-radiological manifestations (41.1%). Recurrent events were common (44.0%).
GCA should be considered in IS/TIA patients aged ≥ 50 years with vertebrobasilar or multiterritorial involvement, or recurrent IS/TIA despite secondary prevention.
Asymptomatic degenerative cervical cord compression (ADCC) represents a premyelopathic stage of degenerative cervical myelopathy (DCM), with high prevalence in older age and unclear management. Contact heat-evoked potentials (CHEPs) assess the integrity of the thermo-algesic somatosensory pathway and have shown the highest sensitivity among neurophysiological methods in detecting dysfunction in the centromedial and anterior spinal cord in DCM.
This cross-sectional cohort study evaluated the utility of upper extremity dermatomal C4, C6 and C8 CHEPs (dCHEPs) compared to standard neurophysiological methods—median and tibial nerves somatosensory evoked potentials (SEPs), upper and lower extremity motor evoked potentials (MEPs), and electromyography (EMG)—for detecting subclinical cervical cord dysfunction in ADCC. Two cohorts were included: 82 ADCC patients (mean age 53.7 ± 9.8 years; 53 females) and 10 DCM patients (mean age 64.0 ± 7.9 years; 4 females). All underwent bilateral dCHEPs (C4, C6, C8), SEPs, MEPs, and EMG (C5–C8 myotomes).
dCHEPs abnormalities were found in 50% of ADCC patients, exceeding the rates for SEPs (32.1%), MEPs (21.8%), and EMG (13.9%). In 20.7%, dCHEPs were the only abnormal neurophysiological finding. In the DCM cohort, dCHEPs were abnormal in 80%, and were the only abnormality in 20%. In both groups, abnormalities were most frequent in the C8 dermatome.
dCHEPs demonstrated superior sensitivity in detecting cervical cord dysfunction, not only in DCM but also in ADCC. As a functional complement to MRI, they may aid in identifying early spinal cord involvement. Their prognostic role in ADCC warrants further study.
We systematically evaluated the different components of the motor unit using an integrated set of noninvasive electrophysiological techniques across a broad spectrum of disease severity in symptomatic adolescents and adults with spinal muscular atrophy types 1–4.
We performed detailed electrophysiological mapping of the median nerve, including the compound muscle action potential scan, and repetitive nerve stimulation, in 104 genetically confirmed patients with SMA (aged ≥ 12 years, types 1c–4) before the start of DMT. We compared data to a reference group of 65 healthy controls.
Motor unit patterns were significantly altered in patients with SMA, showing severe motor unit loss and enlarged motor units. Distinct patterns reflected disease severity, independent of age or disease duration. Patterns were characterized by varying proportions of enlarged motor units relative to motor unit number, with significantly reduced motor unit number and high contributions of enlarged units in advanced disease stages. Neuromuscular junction (NMJ) dysfunction (≥ 10% decrement) was present in 13%–38% of patients, irrespective of SMA severity. In line with these findings, clinical motor function scores correlated with greater motor unit loss and higher contributions of enlarged motor units.
We identified altered motor unit patterns and NMJ function in patients with SMA, with distinct patterns across SMA severity independent of age or disease duration. These measures may serve as complementary biomarkers for disease severity in patients with SMA.
Dutch registry for clinical studies and trials (www.toetsingonline.nl): NL72562.041.20 (March 26, 2020)
Anti-IgLON5 disease is now considered a complex and heterogeneous neurological disorder with sleep, movement, and neuroimmunological as well as neurodegenerative aspects. The aim of this systematic review and meta-analysis was to entail the whole clinical spectrum as well as laboratory characteristics, therapeutic interventions and reported outcomes of anti-IgLON5 disease.
The electronic databases PubMed/MEDLINE, Web of Science and Semantic Scholar were searched for case reports and case series on anti-IgLON5 disease published until July 31, 2024. For inclusion, studies had to report on patients with a positive IgLON5 antibody titer in serum or CSF and be published in English in a peer-reviewed journal. For meta-analyses, only case series with N ≥ 10 patients were considered. The risk of bias was assessed with the JBI critical appraisal tool.
A total of 285 patients (N case series/case reports = 85) with anti-IgLON5 disease were included in this systematic review. Sleep abnormalities (N = 218; 76.5%), bulbar dysfunction (N = 175; 61.4%) and movement disorders (N = 160; 56.1%) were most frequently reported. The prevalence of IgLON5 antibodies in the serum was 99.6% (N reported = 276).
Based on our results, anti-IgLON5 disease should be considered in patients presenting with sleep disorders and additional neurological symptoms that might resemble other diseases but do not fulfill the respective diagnostic criteria. Testing for antibodies in serum has a high sensitivity in this disorder. A limitation of this study is that it was not preregistered.
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