Neuropsychiatric symptoms are more severe in early-onset Alzheimer's disease than late-onset Alzheimer's disease across the disease course. It could suggest a pattern of selective vulnerability extending to the brain's subcortical structures. Co-pathologies such as argylophilic grain disease may also play a role in increasing neuropsychiatric symptoms.

Blood lipids may affect the risk of post-stroke dementia in different ways, with higher risk associated with low-density lipoprotein cholesterol, lower risk associated with triglycerides, and no association with high-density lipoprotein cholesterol.

Longitudinal changes in Longitudinal Amyloid Cognitive Composite in Preclinical Alzheimer Disease (LACPA) score in cognitively normal participants. This study investigated longitudinal cognitive decline associated with amyloid-β (Aβ) in cognitively normal elderly individuals and developed the LACPA using cognitive tests that distinguished cognitive trajectories between Aβ+ and Aβ−. The LACPA may contribute to monitoring Aβ-related cognitive decline and therapeutic efficacy of disease-modifying agents specifically targeting Aβ.

The pro-inflammatory marker urinary neopterin was investigated as a disease progression biomarker for amyotrophic lateral sclerosis. It was also compared to urinary p75 extracellular domain (p75^ECD). Urinary neopterin and p75^ECD progressively increased from diagnosis. Urinary neopterin might serve as a biomarker of an underlying pro-inflammatory state in amyotrophic lateral sclerosis.

This study combined polygenic risk score (PRS) and longitudinal diffusion tensor imaging (DTI) data to investigate the effect of genetic risk on white matter (WM) integrity in patients with Parkinson disease (PD). We found PRS was associated with younger age at onset in PD patients, and the high-PRS group showed more extensive WM microstructural degeneration, mainly involving the anterior thalamic radiation (AThR) and inferior fronto-occipital fasciculus (IFOF). Furthermore, WM microstructural changes in AThR may lead to poor cognition with continuing dopamine depletion.

Stroke-related restless legs syndrome (sRLS) related to ischemic lesions is an emerging entity that we characterized clinically, neuroanatomically and functionally. The clinical characteristics of sRLS and idiopathic RLS were similar overall. Infarctions in sRLS patients most commonly affected the lenticulostriate area and the ventral brainstem. An increased dopaminergic tone in the striatum ipsilateral to lenticulostriate infarction was present. Both the corticospinal tract and the cortico-pontocerebellar fibers were lesioned in RLS related to brainstem stroke. Clinicians should be aware of the characteristics of sRLS for the appropriate diagnosis and treatment of this condition.

The severity of GBA variants underlies distinct phenotypic spectrums, with Parkinson disease (PD) patients carrying severe and complex variants seeming to have similar phenotypes. PD patient stratification by GBA variant severity should become a prerequisite for selecting specific treatments.

We here investigated the prognostic factor of ambulatory blood pressure (BP) and orthostatic hypotension (OH) treatment on mortality in a cohort of 129 multiple system atrophy (MSA) patients. The main findings were independent associations between male gender, disease severity (UMSARS), daytime BP variability and OH treatment with mortality in MSA patients.

Patients with blepharospasm exhibited increased dynamic amplitude of low-frequency fluctuations in the right primary motor cortex (a) and decreased dynamic functional connectivity strength between the right primary motor cortex and ipsilateral cerebellum (b) compared with healthy controls. Blepharospasm may be a network disorder involving the cerebello-cortical circuits.

This hospital-based retrospective cohort study revealed that early treatment with amantadine is associated with delay onset of levodopa-induced dyskinesia in patients with early Parkinson's disease. In addition, a potential heterogeneous treatment effect was found by predominant motor features. Longer use of amantadine appears to have greater beneficial effect in patients with akinetic-rigid motor subtype, but not in patients with tremor predominant motor subtype.

Manual plaque density measurement on CTA in search of the carotid atherosclerotic plaque area yielding the lowest density.

In recently diagnosed people living with human immunodeficiency virus (HIV) (N = 30), worsening of HIV-associated neurocognitive disorder was found at 12 months on antiretroviral therapy in 27% of subjects, stable/improvement in the remaining 73%. No association was found between regional cerebral blood flow or regional cerebral oxygen metabolism and cognitive impairment at baseline. There was a reduction in subcortical cerebral oxygen metabolism in those with worsening of cognitive function at 12 months on antiretroviral therapy. Reduction in cerebral oxygen metabolism may be a biomarker of cognitive decline in people living with HIV.

We examined the longitudinal changes in Expanded Disability Status Scale (EDSS) from clinically isolated syndrome (CIS) until the last follow-up in 496 women belonging to the Barcelona CIS prospective cohort. The within-subject changes before–after the menopause did not show a significant inflection point around menopause. Global EDSS trajectories based on 13,718 EDSS measurements, with an average of 28 EDSS measurements per patient, were not significantly different between menopausal and nonmenopausal women when controlling for age and disease duration. The same results were obtained for the subgroup of women with confirmed multiple sclerosis.

Extrapolated data from the ORATORIO trial suggest ocrelizumab treatment delays the median time to requiring a wheelchair by 7.1 years versus placebo. Similar disability trajectories observed in real-world data from the MSBase registry and initial data from the ORATORIO open-label extension support the plausibility of these extrapolations.

This study compared the incidence of cancer between patients with multiple sclerosis (MS) and the general population, using the nationwide French health care database (Système National des Données de Santé) and its representative sample (Echantillon Généraliste de Bénéficiaires). Overall, 576 cancers per 100,000 patient years (PY) were observed in MS patients versus 424 per 100,000 PY in the general population, resulting in a hazard ratio (HR) of 1.36 (95% confidence interval [CI] = 1.29–1.43). In addition, an increased risk of specific cancers was found in MS patients, including prostate (HR = 2.08, 95% CI = 1.68–2.58), colorectal and anal (HR = 1.35, 95% CI = 1.16–1.58), trachea, bronchus, and lung (HR = 2.36, 95% CI = 1.96–2.84), and breast cancer (HR = 1.12, 95% CI = 1.03–1.23).

With available tools, the transition between relapsing–remitting and secondary progressive multiple sclerosis remains difficult to determine. Focus should shift to distinguishing between active and nonactive disease.

Relapses and magnetic resonance imaging (MRI) activity in the first 6 or 12 months on treatment are usually used to determine treatment success in relapsing–remitting multiple sclerosis. An investigation using a large trial dataset shows that current definitions of early treatment success are unrelated to patient-relevant disability worsening at 36 months of follow-up. Failure to achieve "no evidence of disease activity" (NEDA-3) occured due to MRI activity in approximately 70% of cases, and due to Expanded Disability Status Scale worsening in less than 10% of cases.

To optimize the guidance of clinical therapies in anti-N-methyl-d-aspartate receptor encephalitis, for the first time our multicenter, real-world study of prospective data with a large cohort systematically compared the efficacy and occurrence of adverse events between three treatment modalities.

Occurrence curve for the prognostic outcomes and age at disease onset (a, b, c) for neuromyelitis optica spectrum disorder (NMOSD) patients; (d, e, f) for anti-aquaporin 4 antibody-positive NMOSD patients; (g, h, i) for anti-myelin oligodendrocyte glycoprotein antibody-positive patients.

Screening was carried out on 97,733 magnetic resonance images performed in our neurocenter for superficial siderosis. Patients with a symmetric infratentorial siderosis pattern in brain magnetic resonance imaging were prospectively evaluated for spinal dural cerebrospinal fluid leaks. Our results show that persisting spinal dural cerebrospinal fluid leaks can frequently be identified in patients with a symmetric infratentorial siderosis pattern, and therefore diagnostic workup in these cases should include magnetic resonance imaging of the whole spine.

During the first 6 months after Guillain–Barré syndrome (GBS) hospital admission, GBS was associated with a 6.6-fold increased mortality as compared with the background population of the same age. Mortality remained increased for approximately 4 years following GBS, and then leveled off to a similar long-term mortality rate.

Comparative proteomics analysis was performed on the cerebrospinal fluid (CSF) from 10 patients with Guillain–Barré syndrome (GBS) and 10 patients with noninflammatory neurological disease (NND) using the tandem mass tags technique. 298 proteins were successfully identified in the CSF samples, of which 97 differentially expressed proteins were identified in the GBS and NND groups. The CSF protein expression profile of patients with GBS is different from that of patients with NND.

The diagnostic algorithm presented in this study helps to identify patients with a myositis-compatible dysphagia pattern and to assign those patients for further myositis-focused diagnostic and therapeutic procedures.

This study reports the association of biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene with human disease in five individuals from two unrelated pedigrees. The reported MLIP-associated disorder causes abnormally elevated creatine kinase levels and may also include exertion-induced myalgia, muscle decompensation and fatigability during low-to-moderate muscle exertion, and cardiac involvement.

Even brief suspension of approximately 2 months of enzyme therapy in patients with late onset Pompe disease results in significant motor and respiratory degradation. In this case, ad integrum recovery is not guaranteed 3 months after the treatment restart.

Multilevel logistic regression analysis showed a significant inverse association between change in anti-acetylcholine receptor (AchR) antibody (ab) level and the odds of improvement, measured by the Myasthenia Gravis Foundation of America. A change in anti-AChR-ab serum level is associated with clinical status in patients with MG. Repetitive measurements of anti-AChR-ab serum levels can objectively assist in the follow-up of a patient with MG.

Rapid response to preventive therapy and its possible predictive factors are fundamental in patients with chronic migraine (CM). In our study, galcanezumab reduced monthly headache days by at least 50% from baseline in >50% of our real-life CM patients after the first month, in about two thirds after 3 months, and in >40% during all 3 months of treatment. More than 60% of subjects discontinued medication overuse (MO) during all 3 months of treatment. Unilateral pain, good response to triptans, normal weight, and MO at baseline appeared to be associated with a positive response.

Clinical predictors of a 75% or higher reduction in monthly migraine days during 3-month erenumab treatment were older age at migraine onset, lower number of failed preventive medications, and higher migraine burden as measured by the Migraine Disability Assessment score questionnaire. At multivariate analysis, no single nucleotide polymorphisms (SNPs) at calcitonin receptor like receptor (CALCRL) and RAMP1 were found to be an independent predictor of treatment response, despite a modest effect of SNPs cannot be ruled out due to the limited sample size of our study.

COVID-19 survivors developed a significant cognitive decline six months after the infection that improved one year later. Long COVID-related cognitive impairment may spontaneously improve over time.

This article reports on 2 years of CJD surveillance in the UK, assessing the impact of the pandemic, including COVID-19 infections and the impact on survival as well as effects on diagnostic services and care.

Augmentation (AUG) is a paradoxical reaction mainly to dopaminergic medication in patients with restless legs syndrome (RLS), but the exact pathomechanism remains unclear. Here, we describe several factors commonly associated with augmentation in RLS. Patients with augmentation had a longer disease duration (p = 0.001), higher RLS severity scores (p = 0.013), higher levodopa equivalent doses (LED) (p < 0.001), higher scores for alexithymia (p = 0.028), a higher prevalence of impulse control disorders (ICDs) (p < 0.001), had more often a history of smoking (p = 0.039), were more often currently smoking (p = 0.015), and had more average pack-years (p = 0.016).

Data from the OPERA I and OPERA II trials in relapsing multiple sclerosis show that earlier ocrelizumab (OCR) use delays the time to requiring a walking aid (Expanded Disability Status Scale score ≥6.0). Differences in disability progression between OCR–OCR continuers versus interferon–OCR switchers were evident throughout the open-label extension, indicating that switching to OCR is never as effective as earlier treatment, and does not reverse lost function. These results demonstrate the benefit of early and continuous OCR treatment.

New onset movement disorders may occur in the acute phase of an infection with Sars-CoV-2, whereas movement disorders as an adverse event after vaccination are rare according to large drug safety report databases. There is concern that Sars-CoV-2 may trigger a hit-and-run mechanism and predispose to the development of neurodegenerative disorders, similar to what was observed after the Spanish flu in 1918 and the subsequent wave of encephalitis lethargica. The pandemic and the associated preventive measures have had a negative impact on the clinical status, access to health care, and overall well-being of patients with pre-existing movement disorders.

There may be an increased prevalence of certain cerebrovascular lesions in Lewy body dementia compared to age-matched controls, but their influence in disease outcomes is poorly understood.

As novel targeted therapies for patients with neuromuscular disorders are on the horizon, there is a general demand for valid and objective outcome measures for motor function assessment. This is a systematic review of all studies reporting the use of portable and wearable technological devices for motor function assessment in neuromuscular disorders. The objective is to raise awareness of the potential of the different technological outcome measures in the neuromuscular field and to be an informative source for the design of future clinical trials.

We here identified a novel c.416G>T (p.Gly139Val) mutation in SOD1, which caused a rapidly progressive respiratory onset form of amyotrophic lateral sclerosis. Postmortem examination confirmed the absence of TDP-43 pathology and displayed typical SOD1 inclusions in remaining motor neurons.

Treatment with sirolimus 2 mg/day by mouth in a patient with inclusion body myositis resulted in rapid and sustained clinical improvement of motor symptoms without adverse effects. We did not observe a meaningful alteration of CD8⁺ T-cell subsets in our patient after 9 and 12 months compared to baseline. The substantial and persistent clinical improvement without immunological treatment effects recorded for cytotoxic CD8⁺ T cells as observed in our patient may be indicative of the myoprotective effects of sirolimus.