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122 result(s) for "Kaski, Diego"
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Neurological update: dizziness
The diagnosis and management of vertigo remains a challenge for clinicians, including general neurology. In recent years there have been advances in the understanding of established vestibular syndromes, and the development of treatments for existing vestibular diagnoses. In this ‘update’ I will review how our understanding of previously “unexplained” dizziness in the elderly is changing, explore novel insights into the pathophysiology of vestibular migraine, and its relationship to the newly coined term ‘persistent postural perceptual dizziness’, and finally discuss how a simple bedside oculomotor assessment may help identify vestibular presentations of stroke.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive, or vestibular impairment; when in combination, it is also termed cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We used non-parametric linkage analysis and genome sequencing to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 ( RFC1 ) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist. The expansion, which occurs in the poly(A) tail of an AluSx3 element and differs in both size and nucleotide sequence from the reference (AAAAG) 11 allele, does not affect RFC1 expression in patient peripheral and brain tissue, suggesting no overt loss of function. These data, along with an expansion carrier frequency of 0.7% in Europeans, implies that biallelic AAGGG expansion in RFC1 is a frequent cause of late-onset ataxia. Biallelic expansion of an intronic AAGGG repeat in RFC1 is identified here as a common cause of late-onset ataxia. This expansion occurs in the poly(A) tail of an AluSx3 element and is observed at a carrier frequency of 0.7% in populations of European ancestry.
Predictors of persistent postural-perceptual dizziness (PPPD) and similar forms of chronic dizziness precipitated by peripheral vestibular disorders: a systematic review
BackgroundThe literature on predictors of persistent postural-perceptual dizziness (PPPD) following peripheral vestibular insults has not been systematically reviewed.MethodsWe systematically reviewed studies on predictors of PPPD and its four predecessors (phobic postural vertigo, space-motion discomfort, chronic subjective dizziness and visual vertigo). Investigations focused on new onset chronic dizziness following peripheral vestibular insults, with a minimum follow-up of 3 months. Precipitating events, promoting factors, initial symptoms, physical and psychological comorbidities and results of vestibular testing and neuroimaging were extracted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.ResultsWe identified 13 studies examining predictors of PPPD or PPPD-like chronic dizziness. Anxiety following vestibular injury, dependent personality traits, autonomic arousal and increased body vigilance following precipitating events and visual dependence, but not the severity of initial or subsequent structural vestibular deficits or compensation status, were the most important predictors of chronic dizziness. Disease-related abnormalities of the otolithic organs and semi-circular canals and age-related brain changes seem to be important only in a minority of patients. Data on pre-existing anxiety were mixed.ConclusionsAfter acute vestibular events, psychological and behavioural responses and brain maladaptation are the most likely predictors of PPPD, rather than the severity of changes on vestibular testing. Age-related brain changes appear to have a smaller role and require further study. Premorbid psychiatric comorbidities, other than dependent personality traits, are not relevant for the development of PPPD.
Acute onset vertigo: evaluating the diagnostic accuracy of referring clinicians to neuro-otology specialist service
Background and AimsAcute vertigo assessment is a diagnostic challenge for non-specialist clinicians.1 Here, we analyse and compare the assessment and diagnosis of referring clinicians with experienced neuro-otology physicians.MethodsThis is a single-centre, retrospective case note analysis of patients referred to an acute neu- ro-otology clinic over 12 months at the National Hospital for Neurology and Neurosurgery.Results112 patients were included in the study, referred to the neuro-otology specialist clinic from the emergency department (54%), primary care (8%) and specialist neurology clinics (38%).Referring clinicians assessed for nystagmus in 66% of patients, vestibulo-ocular reflex in 27% and performed a dix hall pike test in 15% compared to 95%, 81% and 73%, respectively in the neuro-otology clinic. 27% of all patients were diagnosed with vestibular migraine but this was correctly identified by non-specialists in 2 patients. Stroke presenting with vertigo was correctly identified in 43% of patients by non-specialists.ConclusionsThese findings cement the need for improved diagnostic tools for vertigo in the acute care setting. It highlights the importance of appropriate clinical examination, and the need for further clinician training and education. Vestibular migraine is a common and under-diagnosed cause of acute vertigo.Reference Cousins S, Kaski D, Cutfield N, et al. Predictors of clinical recovery from vestibular neuritis: a prospective study. Ann Clin Transl Neurol 2017;4:340-6. 10.1002/acn3.386 28491901
Cranial functional (psychogenic) movement disorders
Functional (psychogenic) neurological symptoms are frequently encountered in neurological practice. Cranial movement disorders—affecting the eyes, face, jaw, tongue, or palate—are an under-recognised feature of patients with functional symptoms. They can present in isolation or in the context of other functional symptoms; in particular, for functional eye movements, positive clinical signs such as convergence spasms can be triggered by the clinical examination. Although the specialty of functional neurological disorders has expanded, appreciation of cranial functional movement disorders is still insufficient. Identification of the positive features of cranial functional movement disorders such as convergence and unilateral platysmal spasm might lend diagnostic weight to a suspected functional neurological disorder. Understanding of the differential diagnosis, which is broad and includes many organic causes (eg, stroke), is essential to make an early and accurate diagnosis to prevent complications and initiate appropriate management. Increased understanding of these disorders is also crucial to drive clinical trials and studies of individually tailored therapies.
Integrated diagnostic algorithm for acute vertigo combining TiTrATE, STANDING, and HINTS: a validation study in the emergency department
Accurate diagnosis of acute vertigo (AV) in emergency settings is crucial due to varied underlying causes. Challenges include differentiating non-life-threatening conditions, like vestibular migraine, from severe issues, such as stroke. The “TiTrATE - STANDING Adapted” algorithm was created to help non-specialist emergency physicians diagnose posterior circulation strokes in AV patients, overcoming the limitations of current practices that require specialized knowledge and equipment. This study involved a prospective validation and retrospective analysis of 67 patients at the National Hospital for Neurology and Neurosurgery and University College London Hospital. Patients underwent objective oculomotor assessments through video oculography and pure tone audiometry, conducted by an experienced audiologist in the acute stage. The accuracy of the “TiTrATE - STANDING Adapted” algorithm was compared to final diagnoses made by specialists, which included a comprehensive review of medical histories, objective test results, and imaging studies. The “TiTrATE - STANDING Adapted” algorithm demonstrated a sensitivity of 90%, with low specificity (57.9%), resulting in a high rate of false positives (24 out of 67) and a global accuracy of 62.7%. Conditions such as vestibular migraine and chronic vascular issues (e.g., orthostatic hypotension) were often misclassified, impacting the overall specificity. Integrating TiTrATE, HINTS Plus, and STANDING into a single diagnostic algorithm for acute vertigo in the ED could enhance accuracy and streamline decision-making. However, the combined model must perform at least as well as its individual components. Key improvements needed before implementation include adding vestibular migraine criteria, refining stroke exclusion guidelines, and ongoing validation to boost diagnostic precision and patient outcomes.
Understanding acute vertigo in emergency care in a large London teaching hospital: patient and physician perspectives on diagnostic challenges and digital support
BackgroundAcute vertigo is a common but diagnostically challenging presentation in emergency departments (EDs), where rapid distinction of life-threatening conditions—like stroke—is critical. Patient and clinician perspectives are often overlooked, and real ED needs and possibilities remain poorly understood. While smartphone-based clinical decision support tools (CDSTs) show promise, evidence on required features for trust and adoption is limited. The UK’s 2025 10-Year Health Plan highlights digital innovation and AI in urgent care, underscoring the need to address these gaps.ObjectiveTo explore the experiences of emergency physicians and patients with acute vertigo during the diagnostic process; identify real-world challenges, needs and opportunities within the ED setting; and assess participants’ perceptions of the acceptability of implementing a smartphone-based decision-support tool (CDST) to aid in acute vertigo diagnosis.DesignQualitative study using semi-structured interviews and reflexive thematic analysis.SettingEmergency Department of University College London Hospitals NHS Foundation Trust (UCLH), UK.Participants10 emergency physicians with experience in managing acute vertigo and 10 patients who had recently presented to the ED with symptoms of acute vertigo.ResultsThe analyses identified challenges and needs when diagnosing acute vertigo in the ED and participants’ views on future smartphone-based CDST development to assist the diagnostic process. Clinicians emphasised diagnostic complexity, limited training and system-level constraints—like lack of space, time and resources—as major challenges. Patients emphasised the need for better communication and clearer diagnostic pathways. Both groups saw potential in smartphone-based CDSTs to improve diagnostic efficiency and accuracy by offering structured assessments and helping clinicians identify serious conditions.ConclusionsThis study offers insights into real-world constraints of diagnosing acute vertigo in the ED. Findings suggest that aligning CDST design with clinical workflows, user trust and environmental realities may facilitate adoption and impact in emergency care settings.
Visual Dependency and Dizziness after Vestibular Neuritis
Symptomatic recovery after acute vestibular neuritis (VN) is variable, with around 50% of patients reporting long term vestibular symptoms; hence, it is essential to identify factors related to poor clinical outcome. Here we investigated whether excessive reliance on visual input for spatial orientation (visual dependence) was associated with long term vestibular symptoms following acute VN. Twenty-eight patients with VN and 25 normal control subjects were included. Patients were enrolled at least 6 months after acute illness. Recovery status was not a criterion for study entry, allowing recruitment of patients with a full range of persistent symptoms. We measured visual dependence with a laptop-based Rod-and-Disk Test and severity of symptoms with the Dizziness Handicap Inventory (DHI). The third of patients showing the worst clinical outcomes (mean DHI score 36-80) had significantly greater visual dependence than normal subjects (6.35° error vs. 3.39° respectively, p = 0.03). Asymptomatic patients and those with minor residual symptoms did not differ from controls. Visual dependence was associated with high levels of persistent vestibular symptoms after acute VN. Over-reliance on visual information for spatial orientation is one characteristic of poorly recovered vestibular neuritis patients. The finding may be clinically useful given that visual dependence may be modified through rehabilitation desensitization techniques.