Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
Creutzfeldt–Jakob disease (CJD) is a rare, fatal prion disease of the central nervous system that develops due to the conversion of the normal cellular protein PrPc to the abnormal PrPSc molecule. The first clinical cases were described in the 1920s. The
Klaudia Rojewska +3 more
doaj +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Stroke rehabilitation in low resource countries: time to provide an organised service
Introduction: Stroke is one of the leading causes of death and disability in low- and middle-income countries (LMICs). The proven efficacy for rehabilitation interventions in improving stroke outcomes in LMICs supports the need to strengthen the ...
Mehran Maanoosi
doaj +1 more source
Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro +6 more
wiley +1 more source
Ischaemic stroke in women and men – in-hospital prognosis
Justyna Tracz +6 more
doaj +1 more source
Evaluation of the neurovascular pathway: The value of specialized training in reducing in-hospital stays and increasing IV thrombolysis rates. Experience of the neurovascular unit at EHU Oran from 2015 to 2024. [PDF]
Introduction: Intravenous thrombolysis (IVT) significantly improves clinical outcomes in ischemic stroke; however, its clinical benefit diminishes rapidly over time.
Douniazede BADSI, Khadidja TERKI, Djawed SAYEH, Djamel CHAKRAR
doaj +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Tau-network mapping of domain-specific cognitive impairment in Alzheimer’s disease
Fibrillar tau gradually progresses in the brain during the course of Alzheimer’s disease (AD). However, the contribution of tau accumulation in a given brain region to decline in different cognitive domains and thus phenotypic heterogeneity in AD remains
Ying Luan +8 more
doaj +1 more source
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller +14 more
wiley +1 more source

