In this work, the distribution of first clinical symptoms in neurodegenerative diseases is provided together with a prevalence adjusted model that depicts the probabilities for each neurodegenerative diagnosis if a distinct first symptom occurs in a patient. For clinicians that hover between two neurodegenerative diagnoses, a scheme is given that may facilitate diagnosis using the first clinical symptom. Further, the prognostic value of the first clinical symptom regarding survival in neurodegenerative diseases is analyzed.

There is concern that the Patient Health Questionnaire-9 (PHQ-9) depression scale may be impacted by the presence of somatic symptoms in patients with neurological conditions, and thus result in an overidentification of patients at high risk for having depression. We evaluated the PHQ-9 for the presence and impact of differential item functioning (DIF), and found PHQ-9 items function consistently across disease severity. Salient levels of DIF impact occurred for a very small proportion of people (15/15,795). These results suggest the PHQ-9 provides a consistent measure of depression severity among people with neurological conditions associated with somatic symptoms that overlap with depression.

A hearing-impaired version of the Addenbrooke's Cognitive Examination-III (HI-ACE-III) was developed to address the potential impact of hearing loss on the accuracy of cognitive screening. Preliminarily, the HI-ACE-III showed good reliability, validity and screening utility for mild cognitive impairment and dementia in older adults in a hearing-impairment context. The adapted HI-ACE-III may offer more reliable indications of cognitive performance, supporting timely diagnosis and contributing to research examining links between hearing loss and cognitive decline.

The prevalence of ICS in our memory clinic cohort was 18.1%. ICS was associated with worse executive function across all time points, and cognitive decline in memory and visuomotor speed over 3-year follow-up; these results were independent of demographic characteristics, baseline diagnosis, vascular risk factors, and other markers of cerebrovascular disease. This suggests that ICS may be a useful indicator of vascular brain damage leading to cognitive decline and may warrant consideration of antiatherosclerotic treatment in clinical trials.

We conducted a multicenter observational cohort study using health registry data from Wales, Germany, Scotland, and Denmark to investigate potential associations between antiherpetic medication and incident dementia, broken down according to medication type and dose, type of herpes virus, and dementia subtype. Our results were heterogeneous, with a tendency toward decreased dementia risk in individuals exposed to antiherpetic medication. We conclude that short-term antiherpetic medication is not markedly associated with incident dementia.

The figure shows the results of univariate and multiple linear regression to investigate the association between deseasonalized baseline 25-hydroxyvitamin D (25OHD) and white matter hyperintensities (WMHs) at 10-year follow-up in the Heinz Nixdorf Recall Study plus 1000BRAINS (LCL, lower confidence limit; UCL, upper confidence limit). In the fully adjusted model that included all participants, on average a 25OHD increase of 1 ng/ml was associated with a reduced WMH volume by a factor of 0.986 (95% CI 0.978; 0.995). In conclusion, a lower baseline 25OHD might be a weak risk factor for more pronounced WMHs 10 years later.

Motoric cognitive risk syndrome (MCR) is a predementia syndrome characterized by cognitive complaints and slow gait. Depressive symptoms, lower cognitive activity participation and presence of apolipoprotein E ε4 allele were identified as predictors of transition to dementia in MCR patients. These findings suggest common pathological mechanisms underlying mood, gait and cognitive declines in aging, which could help develop preventive strategies.

The Chinese version of the Rasch-Built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) was validated by Rasch analysis with proper validity and reliability. It indicates a wider range of item difficulties and better responsiveness than the revised Amyotrophic Lateral Sclerosis Functional Rating Scale. The ROADS could be used as a valuable tool for use in amyotrophic lateral sclerosis trials and in the clinic in Chinese settings.

Nocturia can be considered as a form of circadian dysregulation and melatonin can help circadian function and nocturia in Parkinson’s disease (PD). In this open-label, single-site, exploratory, phase 2 pilot study, melatonin 2 mg was administered once-nightly for 6 weeks to adults with PD and nocturia. All patients had standardized urological assessments before and during treatment. In the 20 patients included, there was significant reduction of bother related to nocturia on International Consultation on Incontinence Questionnaire Nocturia (ICIQ-N) (p = 0.01). The number of episodes of nocturia per night (p = 0.013) and average urine volume voided at night (p = 0.013) also improved. No serious adverse events were reported.

Patients with Parkinson’s disease were randomly assigned to either the group-based rehabilitation (GBR) group (n = 40) or the individual-based rehabilitation (IBR) group (n = 39). The outcome was the difference between the GBR group and the IBR group in the mean change from baseline to post-training in the total score on the Unified Parkinson's Disease Rating Scale. GBR had a more beneficial effect than IBR up to 6 months after training.

In this online survey designed by the Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society, worldwide access to genetic tests for movement disorders and factors impacting their utilization were investigated. Access to geneticists and genetic counsellors as well as to genetic testing for movement disorders was limited at worldwide level, with significant differences in most world regions compared to Europe and North America. Our results highlight major disparities in accessing genetic testing and experts in genetics amongst world regions, probably due to a variety of factors including financial barriers.

In acute ischemic stroke patients treated with mechanical thrombectomy, systolic blood pressure (SBP) change from baseline is associated with poor functional outcome. The association between SBP change and poor outcome was mostly linear; however, increasingly worse outcomes were observed for increasing SBP.

The current Mendelian randomization study found the correlation of HCY with imaging burden of CSVD especially with lacunes and brain volumes loss, and genetic predisposition could facilitate or weaken the correlation. For individuals with risk genetic variants, enhanced HCY lowering strategies might be necessary to reduce the risk and progression of CSVD.

Stroke mimics represent up to 16% of stroke code with a complete multimodal study. The main perfusion computed tomography pattern is alteration of the time to peak map, of unilateral hemispheric distribution or of non-vascular territory. In our series, the independent predictors of alteration in perfusion computed tomography in stroke mimics are aphasia, female sex and older age.

Depressive and apathetic symptoms are frequent neuropsychiatric disturbances after stroke and may appear together. These two symptoms might be associated with different prognoses and benefit from different treatments. Our study showed that apathetic symptoms occurring alone or together with depressive symptoms, but not depressive symptoms that occurred alone, are associated with poor outcome after stroke. Our results underscore the importance of recognizing apathetic symptoms independently from depressive symptoms.

Disrupted structural connectivity-functional connectivity coupling in capsular versus pontine stroke.

A prospective population-based study was conducted from 2013 to 2017 to determine the incidence and case fatality rate of first-ever stroke in 15- to 54-year-old residents of Tartu, Estonia. We used several overlapping data sources for case ascertainment, and 110 cases were registered (ischemic stroke 72.7%, intracerebral hemorrhage 12.7%, subarachnoid hemorrhage 14.6%). Crude stroke incidence rate was 38/100,000 (95% confidence interval: 31.2–45.8), and the 28-day case-fatality rate was 10.9%.

Apart from hematoma location and volume, apolipoprotein E ε2 was an independent predictor of subarachnoid extension in spontaneous supratentorial intracerebral haemorrhage. The association might predominantly apply to lobar haemorrhage.

FiletPA may be an effective therapy for “Wake-Up Stroke”. In this meta-analysis, tPA was associated with an increased probability of achieving a good functional outcome at 90 days and with an acceptably low risk of intracranial hemorrhage.

Treatment with alteplase in patients with acute stroke resulted in lower rates of depression at 90 days, which were only partially explained by reduced functional disability.

The objectives were to determine the proportion of untreated patients with multiple sclerosis (MS) followed in expert centers in France and to determine the predictive factors of non-treatment. Among the 21,189 patients with MS, 31.3% were not receiving any disease-modifying treatment and the most important predictive factor for not being treated was the disease course: 14.8% of patients with a relapsing-remitting course were untreated, while 50.4% of those with secondary and 64.2% of those with primary progressive MS were untreated. After multivariate analysis among patients with relapsing-remitting MS, the main factors explaining never having been treated were not having ≥9 lesions on brain magnetic resonance imaging and lower Expanded Disability Status Scale score.

In this 4-year prospective observational study on 113 RMS patients, retinal thinning was investigated for prediction of disease-modifying treatment failure. Thinning of GCIPL and to a lesser degree pRNFL were found to reliably predict disability progression after DMT initiation and may be a useful and accessible biomarker of treatment failure in RMS.

Chronic axonal polyneuropathy is a common, disabling disease for which there is no treatment yet available. This highlights the need to identify modifiable risk factors. In this population-based study, we investigated the association between cardiovascular health, defined by the seven-item American Heart Association score, and chronic axonal polyneuropathy. Better cardiovascular health, consisting of both modifiable health behaviour and health factors, is associated with lower prevalence of chronic axonal polyneuropathy in the general population. This is of interest because individuals can potentially modify their health behaviour.

Several component causes of peripheral neuropathy are associated with vitamin B12 deficiency that can itself cause neuropathy. Low plasma vitamin B12 and elevated plasma homocysteine and methylmalonic acid were found to be associated with the presence of neuropathy. Treatment with B12 in patients with neuropathy was associated with only slight symptom improvement.

Over- and underdiagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is common. A referral diagnosis of CIDP was revised in 32% of patients (31/96; overdiagnosis). Of 81 patients diagnosed with CIDP, 16 (20%) were referred with another diagnosis (underdiagnosis). Almost all overdiagnosed patients had other forms of neuropathy, while underdiagnosed patients were referred with various neurological disorders. Diagnostic pitfalls included lack of attention to proximal muscle weakness as a diagnostic hallmark of CIDP, insufficient recognition of clinical atypical phenotypes, overreliance on cerebrospinal fluid protein levels, misinterpretation of nerve conduction studies and poor adherence to electrodiagnostic criteria, and failure to exclude other causes of polyneuropathy.

Participants with type 2 diabetes and metabolic syndrome demonstrated more severe changes in nerve excitability measures, which was due to a reduction in sodium channel permeability and sodium–potassium pump function. In contrast, in subjects with type 2 diabetes alone, only sodium channel permeability was decreased. A larger median nerve cross-sectional area and a greater reduction in corneal confocal microscopy metrics were observed in participants with type 2 diabetes and metabolic syndrome.

Thymoma-associated myasthenia gravis (MG) patients had more severe myasthenic symptoms and worse prognosis. Thymoma recurrence was frequently associated with transient worsening of MG, but long-term prognosis did not differ from nonrecurrent thymoma. Patients with nonresectable thymoma tended to present severe forms of MG.

Late-onset dysferlinopathy patients show a higher frequency of atypical presentations, including camptocormia, and are less severely affected compared with early-onset patients. Furthermore, they present less necrosis and inflammation in muscle biopsy.

We report a patient with a clinical phenotype suggestive of Huntington's disease (HD), who was repeatedly negative on genetic testing for HD. A newly designed set of primers was used and enabled amplification of the mutant allele and detection of the abnormal range of CAG repeats. As application of the novel primers led to the diagnosis of HD in another five patients who previously tested negative, we propose their incorporation into routine genetic testing in patients suspected to have HD.

Larger studies are challenged by the perceived lack of equipoise in this vulnerable patient population. Conditional probability analysis suggests that a very small future trial would make a combined significant effect for the outcomes of (a) modified Rankin Scale score 0–3 and (b) all-cause mortality at 3 months in a future meta-analysis almost certain.

The optimal diagnosis and treatment of patients with central retinal artery occlusion (CRAO) is still controversial. In a retrospective analysis of management pathways of CRAO patients, we observed increased rates of primary stroke admissions from 52.2% to 97.4% and, coinciding with the implementation of in-house guidelines, of intravenous thrombolysis from 0% to 14.1%. Almost 60% of patients presented >4.5 h after symptom onset. Our findings underscore the need to raise public awareness of acute unilateral vision loss as a potential stroke symptom and the joint application of neuro-ophthalmological expertise in managing CRAO.

Unexpectedly, Symbol Digit Modalities Test (SDMT) measurements steadily increased during follow-up in a large clinical trial dataset, likely due to a practice effect. The SDMT does not reflect the steady cognitive decline that patients with secondary progressive multiple sclerosis (SPMS) often experience. The SDMT may not be a useful outcome in SPMS clinical trials.

Eye movements are often disturbed in patients with anti-Hu–associated paraneoplastic neurological syndromes, including in those without clinical signs of CNS involvement. Eye-movement recordings might contribute to determining disease progression and therapy response.

Immunohistochemical detection of prion protein (PrP) in cutaneous samples could be used to definitively diagnose glycosylphosphatidylinositol (GPI)-anchorless PrP disease with neuropathy. The PrP deposits were observed in the dermal papilla (A, B), the eccrine glands (C), the sebaceous glands (D), the hair follicles (E), and peripheral nerves (F) of all examined cases of GPI-anchorless prion disease with neuropathy. The abnormal PrP accumulation was frequently localized at the basement membrane, and colocalized with laminin (G-I: eccrine glands).