Vestibular paroxysmia: Diagnostic criteria Strupp, Michael; Lopez-Escamez, Jose A; Kim, Ji-Soo ...
Journal of vestibular research,
01/2016, Letnik:
26, Številka:
5-6
Journal Article
Recenzirano
Odprti dostop
This paper describes the diagnostic criteria for vestibular paroxysmia (VP) as defined by the Classification Committee of the Bárány Society. The diagnosis of VP is mainly based on the patient ...history and requires: A) at least ten attacks of spontaneous spinning or non-spinning vertigo; B) duration less than 1 minute; C) stereotyped phenomenology in a particular patient; D) response to a treatment with carbamazepine/oxcarbazepine; and F) not better accounted for by another diagnosis. Probable VP is defined as follows: A) at least five attacks of spinning or non-spinning vertigo; B) duration less than 5 minutes; C) spontaneous occurrence or provoked by certain head-movements; D) stereotyped phenomenology in a particular patient; E) not better accounted for by another diagnosis.Ephaptic discharges in the proximal part of the 8th cranial nerve, which is covered by oligodendrocytes, are the assumed mechanism. Important differential diagnoses are Menière's disease, vestibular migraine, benign paroxysmal positional vertigo, epileptic vestibular aura, paroxysmal brainstem attacks (in multiple sclerosis or after brainstem stroke), superior canal dehiscence syndrome, perilymph fistula, transient ischemic attacks and panic attacks. Current areas of uncertainty in the diagnosis of VP are: a) MRI findings of vascular compression which are not diagnostic of the disease or predictive for the affected side because they are also observed in about 30% of healthy asymptomatic subjects; and b) response to treatment with carbamazepine/oxcarbazepine supports the diagnosis but there are so far no randomized controlled trials for treatment of VP.
ObjectiveMany clinically extremely vulnerable rheumatology patients have only recently ceased shielding from COVID-19, while some continue to minimise in-person contact. The objective of this study ...was to understand the impact of shielding and associated support needs in patients with rheumatic conditions and to understand how rheumatology teams can meet these needs both currently and in future pandemics.Design, participants and settingThe study was conducted in the Southwest of England using a case-study design. The participants were 15 patients with rheumatic conditions who were advised to shield and/or chose to shield at any time during the COVID-19 pandemic.MethodsQualitative data collected via telephone and online semi-structured interviews and analysed using reflexive thematic analysis.ResultsFifteen interviews were conducted. Three main themes represent the data:‘Just shove them over there in the corner’ captures changes in patients’ self-perception. They felt different to most other people, vulnerable and left behind. The initial sense of shock was followed by a sense of loss as changes became long term.‘A long and lonely road’ captures patients’ psychological isolation due to a perceived lack of understanding and support. This included having to prove their health status and justify their shielding behaviours, which impacted their relationships. At times, they felt abandoned by their healthcare providers.‘You can’t just flip a switch’ captures the difficulty of getting back to pre-pandemic normal after shielding. Patients did not recognise themselves physically and mentally. They wanted to collaborate with health professionals and identified the need for specific guidance to support their recovery.ConclusionPatients are dealing with lasting physical and mental effects from shielding and consequences of delayed healthcare. Health professionals need time and resources to ask about patients’ well-being, identify their health needs and refer/signpost to appropriate sources of support.
See Charidimou (doi:
10.1093/aww253
) for a scientific commentary on this article
.
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations is a newly recognised and often ...misdiagnosed neurovascular syndrome caused by mutations in
TREX1
. Stam
et al
. provide the first comprehensive clinical, pathological and radiological characterization of RVCL-S, and highlight cerebral mass lesions, impaired liver and kidney function, and premature death.
See Charidimou (doi:
10.1093/aww253
) for a scientific commentary on this article
.
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations is a newly recognised and often misdiagnosed neurovascular syndrome caused by mutations in
TREX1
. Stam
et al
. provide the first comprehensive clinical, pathological and radiological characterization of RVCL-S, and highlight cerebral mass lesions, impaired liver and kidney function, and premature death.
See Charidimou (doi:
10.1093/aww253
) for a scientific commentary on this article
.
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in
TREX1
, which was termed ‘retinal vasculopathy with cerebral leukodystrophy’. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder. We identified five different
TREX1
mutations in 78 members from 11 unrelated families and by using a standardized study protocol we retrospectively reviewed and aggregated the associated clinical, neuroimaging, and pathology data. Findings were similar across mutations and families. Sixty-four mutation carriers had vascular retinopathy. Neuroimaging revealed (i) punctate, hyperintense, white matter lesions with or without nodular enhancement in 97% of them; (ii) rim-enhancing mass lesions in 84%; and (iii) calcifications in the white matter in 52%. Ninety per cent had clinical manifestations of brain disease, including focal neurological deficits (68%), migraine (59%), cognitive impairment (56%), psychiatric disturbances (42%), and seizures (17%). One mutation carrier had enhancing brain lesions and neurological features but unknown retinopathy status. Additional systemic features included liver disease (78%), anaemia (74%), nephropathy (61%), hypertension (60%), mild Raynaud’s phenomenon (40%), and gastro-intestinal bleeding (27%). Mean (± standard deviation) age at diagnosis was 42.9 ± 8.3 years and at death 53.1 ± 9.6 years. Pathological examination revealed systemic vasculopathy with luminal narrowing and multi-laminated basement membranes. The 13 mutation carriers without retinopathy or brain lesions were on average 8 years younger (mean age: 35.1 ± 10.6 years). Of them, 54% had mild Raynaud’s phenomenon, 42% had migraine, and 23% had psychiatric disturbances. Retinal vasculopathy with cerebral leukodystrophy is an autosomal dominant systemic small-vessel disease due to specific
TREX1
mutations and clinically primarily characterized by (i) visual impairment from vascular retinopathy; and (ii) neurological decline and premature death due to progressive enhancing cerebral white matter lesions. Impaired liver and kidney function, anaemia sometimes associated with gastrointestinal bleeding, hypertension, migraine, and Raynaud’s phenomenon appear to be part of the clinical spectrum as well. Penetrance seems high. Because of the pathogenetic basis and the emerging clinical picture with systemic manifestations and conspicuous absence of leukodystrophy, we renamed the disease ‘retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations’. We propose diagnostic criteria to facilitate clinical recognition and future studies.
Episodic ataxia type 1 (EA1) is a rare autosomal potassium channelopathy, due to mutations in
KCNA1
. Patients have childhood onset of intermittent attacks of ataxia, dizziness or imbalance. In order ...to quantify the natural history of EA1, its effect on quality of life and in preparation for future clinical trials, we set up an international multi-centre study of EA1. We recruited thirty-three participants with EA1: twenty-three completed 1-year follow-up and eighteen completed 2-year follow-up. There was very little accumulation of disability or impairment over the course of the 2 years of the study. The outcome measures of ataxia (SARA and functional rating of ataxia) and the activities of daily living scale were largely stable over time. Self-reported health-related quality of life (SF-36) scores were lower across all domains than controls, in keeping with a chronic condition. Physical subdomain scores appeared to deteriorate over time, which seems to be driven by the female participants in the study. This is an interesting finding and warrants further study. Attacks of EA1 reported by participants in real time via an interactive voice response system showed that symptoms were not stereotyped; however, attack duration and frequency was stable between individuals. This large prospective study is the first ever completed in subjects with EA1. We document the natural history of the disorder over 2 years. These data will enable the development of outcome measures for clinical trials of treatment.
Episodic ataxia type 1 is considered a rare neuronal ion channel disorder characterized by brief attacks of unsteadiness and dizziness with persistent myokymia. To characterize the natural history, ...develop outcome measures for future clinical trials, and correlate genotype with phenotype, we undertook an international, prospective, cross-sectional study. Thirty-nine individuals (51% male) were enrolled: median age 37 years (range 15-65 years). We identified 10 different pathogenic point mutations in KCNA1 that accounted for the genetic basis of 85% of the cohort. Participants with KCNA1 mutations were more likely to have a positive family history. Analysis of the total cohort showed that the first episode of ataxia occurred before age 20 in all but one patient, with an average age of onset of 7.9 years. Physical exertion, emotional stress and environmental temperature were the most common triggers for attacks. Attack frequency ranged from daily to monthly, even with the same KCNA1 genotype. Average attack duration was in the order of minutes. Ten participants (26%) developed permanent cerebellar signs, which were related to disease duration. The average Scale for the Assessment and Rating of Ataxia score (SARA, a standardized measure of cerebellar dysfunction on clinical examination, scores range from 0-40) was an average of 3.15 for all participants (range 0-14), but was only 2 in those with isolated episodic ataxia compared with 7.7 in those with progressive cerebellar ataxia in addition to episodic ataxia. Thirty-seven participants completed the SF-36, a quality of life survey; all eight domain norm-based average scores (mean=50) were below normal with mental health being the lowest (41.3) in those with mutation positive episodic ataxia type 1. Scores on SF-36 correlated negatively with attack frequency. Of the 39 participants in the study, 33 harboured mutations in KCNA1 whereas the remaining six had no mutation identified. Episodic ataxia type 1 phenocopies have not been described previously and we report their clinical features, which appear to be different to those with a KCNA1 mutation. This large prospective study of both genetically confirmed episodic ataxia type 1 and episodic ataxia type 1 phenocopies provides detailed baseline characteristics of these disorders and their impact on participants. We found that attacks had a significant effect on quality of life. Unlike previous studies, we found that a significant number of individuals with genetically confirmed episodic ataxia type 1 (21%) had accumulated persistent cerebellar symptoms and signs. These data will enable the development of outcome measures for clinical trials of treatment.
The familial episodic ataxias (EAs) are prototypical channelopathies in the central nervous system clinically characterized by attacks of imbalance and incoordination variably associated with ...progressive ataxia and variable interictal features. EA1, EA2, and EA6 are caused by mutations in ion channel- and transporter-encoding genes that regulate neuronal excitability and neurotransmission.
Two cases of rheumatoid meningitis Magaki, Shino; Chang, Edward; Hammond, Robert R. ...
Neuropathology,
February 2016, Letnik:
36, Številka:
1
Journal Article
Recenzirano
Central nervous system (CNS) involvement by rheumatoid arthritis (RA) in the form of rheumatoid meningitis (RM) is rare and most commonly occurs in the setting of longstanding severe RA. Due to a ...wide range of clinical presentations and nonspecific laboratory findings, it presents a diagnostic challenge often requiring brain biopsy. Only a few histopathologically confirmed cases have been described in the literature. Our aim is to describe two cases of RM and review the literature. The first case is of a previously healthy 37‐year‐old man who presented with severe headaches and focal neurologic deficits. Magnetic resonance imaging demonstrated abnormal leptomeningeal enhancement in the left frontal and parietal sulci. The second case is of a 62‐year‐old woman with a history of mild chronic joint pain who presented with confusion, personality changes and seizures. Both patients ultimately underwent brain biopsy which demonstrated RM on pathologic examination. Administration of corticosteroids resulted in significant clinical improvement in both cases. To our knowledge, our unusual case of RM in the young man is the fifth reported case of rheumatoid meningitis in a patient with no prior history of RA. Such an atypical presentation makes diagnosis even more difficult and highlights the need for awareness of this entity in the diagnostic consideration of a patient presenting with unexplained neurologic symptoms. Our literature review underscores the clinical and pathologic heterogeneity of CNS involvement in RA.
Introduction
Benign paroxysmal positional vertigo (BPPV) is a common condition with disabling symptoms that is diagnosed and effectively treated at the bedside. Our encounter with patients ...experiencing prolonged BPPV who may not have received appropriate physical therapy prompted us to explore barriers to the diagnosis and treatment for BPPV among physical therapists, which has not been extensively investigated. We hypothesize that a potential barrier may be a lack of understanding of subtle symptoms of BPPV that deviate from the classical presentation. The gold standard for diagnosing definite BPPV is subjective dizziness or vertigo with nystagmus in response to positional testing. There are variants of BPPV including subjective BPPV (subjective dizziness or vertigo without nystagmus) and vestibular agnosia (nystagmus without subjective dizziness or vertigo) that do not meet the diagnostic criteria for definite BPPV but are equally responsive to the same repositioning maneuvers. The purpose of this project was to survey physical therapists for their understanding of BPPV including subjective BPPV and vestibular agnosia.
Methods
A panel of experts created a 16-question survey, designed for physical therapists, with three categories: (1), inquiring if they treat persons with BPPV, (2) three clinical vignettes for definite BPPV, subjective BPPV, and BPPV with vestibular agnosia, and (3) demographic information. Data collection occurred at two large physical therapy meetings, one of which was a national professional meeting and the other was a professional continuing medical education course geared towards advancing vestibular rehabilitation skills.
Results
There were 426 people who completed the survey, 364 of whom treat BPPV in their practice. In the first clinical vignette created to assess the respondents' understanding of definite BPPV, 229 (62%) of respondents would always assess a patient for BPPV based on complaints of a “room spinning” vertigo from head movement. When asked if the complaint was lingering “lightheadedness or feelings of imbalance” from head movement, only 158 (43%) reported they would perform positional testing to reassess. In the BPPV variant vignettes, 187 (51%) identified the patient with subjective BPPV as having BPPV and 305 (85%) identified the patient with vestibular agnosia as having BPPV.
Discussion
The results of this survey demonstrate gaps in knowledge regarding BPPV across practice settings and experience, with opportunities to bridge these gaps to improve treatment for BPPV.
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