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Continuum (Minneapolis, Minn.) Aug 2016This article introduces the background and common etiologies of ataxia and provides a general approach to assessing and managing the patient with ataxia. (Review)
Review
PURPOSE OF REVIEW
This article introduces the background and common etiologies of ataxia and provides a general approach to assessing and managing the patient with ataxia.
RECENT FINDINGS
Ataxia is a manifestation of a variety of disease processes, and an underlying etiology needs to be investigated. Pure ataxia is rare in acquired ataxia disorders, and associated symptoms and signs almost always exist to suggest an underlying cause. While the spectrum of hereditary degenerative ataxias is expanding, special attention should be addressed to those treatable and reversible etiologies, especially potentially life-threatening causes. This article summarizes the diseases that can present with ataxia, with special attention given to diagnostically useful features. While emerging genetic tests are becoming increasingly available for hereditary ataxia, they cannot replace conventional diagnostic procedures in most patients with ataxia. Special consideration should be focused on clinical features when selecting a cost-effective diagnostic test.
SUMMARY
Clinicians who evaluate patients with ataxia should be familiar with the disease spectrum that can present with ataxia. Following a detailed history and neurologic examination, proper diagnostic tests can be designed to confirm the clinical working diagnosis.
Topics: Ataxia; Humans
PubMed: 27495205
DOI: 10.1212/CON.0000000000000362 -
Annals of Clinical and Translational... May 2021Most SARS-CoV-2-infected individuals never require hospitalization. However, some develop prolonged symptoms. We sought to characterize the spectrum of neurologic...
OBJECTIVE
Most SARS-CoV-2-infected individuals never require hospitalization. However, some develop prolonged symptoms. We sought to characterize the spectrum of neurologic manifestations in non-hospitalized Covid-19 "long haulers".
METHODS
This is a prospective study of the first 100 consecutive patients (50 SARS-CoV-2 laboratory-positive (SARS-CoV-2 ) and 50 laboratory-negative (SARS-CoV-2 ) individuals) presenting to our Neuro-Covid-19 clinic between May and November 2020. Due to early pandemic testing limitations, patients were included if they met Infectious Diseases Society of America symptoms of Covid-19, were never hospitalized for pneumonia or hypoxemia, and had neurologic symptoms lasting over 6 weeks. We recorded the frequency of neurologic symptoms and analyzed patient-reported quality of life measures and standardized cognitive assessments.
RESULTS
Mean age was 43.2 ± 11.3 years, 70% were female, and 48% were evaluated in televisits. The most frequent comorbidities were depression/anxiety (42%) and autoimmune disease (16%). The main neurologic manifestations were: "brain fog" (81%), headache (68%), numbness/tingling (60%), dysgeusia (59%), anosmia (55%), and myalgias (55%), with only anosmia being more frequent in SARS-CoV-2 than SARS-CoV-2 patients (37/50 [74%] vs. 18/50 [36%]; p < 0.001). Moreover, 85% also experienced fatigue. There was no correlation between time from disease onset and subjective impression of recovery. Both groups exhibited impaired quality of life in cognitive and fatigue domains. SARS-CoV-2 patients performed worse in attention and working memory cognitive tasks compared to a demographic-matched US population (T-score 41.5 [37, 48.25] and 43 [37.5, 48.75], respectively; both p < 0.01).
INTERPRETATION
Non-hospitalized Covid-19 "long haulers" experience prominent and persistent "brain fog" and fatigue that affect their cognition and quality of life.
Topics: Adult; COVID-19; Cognitive Dysfunction; Fatigue; Female; Headache; Humans; Male; Middle Aged; Nervous System Diseases; Prospective Studies; Telemedicine; Post-Acute COVID-19 Syndrome
PubMed: 33755344
DOI: 10.1002/acn3.51350 -
Indian Journal of Pathology &... May 2022The COVID-19 pandemic has placed global health care systems under unprecedented strain but has, at the same time, provided a unique opportunity for pathologists to turn... (Review)
Review
The COVID-19 pandemic has placed global health care systems under unprecedented strain but has, at the same time, provided a unique opportunity for pathologists to turn autopsy findings into directly actionable insights into patient care. The current data on the neuropathology of COVID-19 remains preliminary and is limited by the lack of suitable controls, but certain tentative conclusions can be drawn. SARS-CoV-2 can infect multiple cell types in the central nervous system and does so in a subset of patients, although the clinical significance of direct infections remains in the central nervous system (CNS) and the peripheral nervous system (PNS) infections remains unclear. The best-described neuropathological manifestations of COVID-19 in the brain are variable patterns of neuroinflammation and vascular injury, although again, it remains unclear to what degree these findings are specifically due to COVID-19. There is also intriguing preliminary data to suggest a complex relationship between COVID-19 and neurodegeneration, with certain alleles that increase AD risk also increasing the risk of severe COVID-19, and conversely, the possibility that COVID-19 may increase the risk of neurodegenerative disease. The neuropathology of so-called "long-COVID" and the potential effects of COVID-19, or critical illness in general, on neurodegenerative disease remains unclear. There is thus an urgent need for long-term cohort studies of COVID-19 survivors, including brain donation, particularly in elderly patients, with careful recruitment of controls with similar non-COVID inflammatory illnesses.
Topics: Aged; Brain; COVID-19; Humans; Neurodegenerative Diseases; Pandemics; SARS-CoV-2
PubMed: 35562145
DOI: 10.4103/ijpm.ijpm_1103_21 -
The Neurohospitalist Oct 2020The virus, severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is responsible for the current pandemic known as coronavirus disease 2019 (COVID-19) with severe... (Review)
Review
The virus, severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is responsible for the current pandemic known as coronavirus disease 2019 (COVID-19) with severe respiratory illness as the predominant manifestation. Neurologic complications from COVID-19 were reported in the early stages of the pandemic and are now increasingly recognized. These include various symptoms like headache and anosmia as well as neurologic complications of severe COVID-19 like encephalopathy, seizures, and stroke. There are few reports of direct involvement of the central nervous system with SARS-CoV-2 causing meningoencephalitis. There is concern for higher incidence and severity of COVID-19 in patients with chronic neurologic conditions. Here, we review the emerging literature along with our anecdotal experience in regard to these neurologic manifestations in patients with COVID-19 and detail the putative pathophysiologic mechanisms for the same.
PubMed: 32983347
DOI: 10.1177/1941874420936096 -
Colombia Medica (Cali, Colombia) 2023Fragile X syndrome is caused by the expansion of CGG triplets in the gene, which generates epigenetic changes that silence its expression. The absence of the protein... (Review)
Review
Fragile X syndrome is caused by the expansion of CGG triplets in the gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities. The physical and neurologic manifestations of the disease appear early in life and may suggest the diagnosis. However, it must be confirmed by molecular tests. It affects multiple areas of daily living and greatly burdens the affected individuals and their families. Fragile X syndrome is the most common monogenic cause of intellectual disability and autism spectrum disorder; the diagnosis should be suspected in every patient with neurodevelopmental delay. Early interventions could improve the functional prognosis of patients with Fragile X syndrome, significantly impacting their quality of life and daily functioning. Therefore, healthcare for children with Fragile X syndrome should include a multidisciplinary approach.
Topics: Humans; Child; Fragile X Syndrome; Autism Spectrum Disorder; Quality of Life; Intellectual Disability; Fragile X Mental Retardation Protein
PubMed: 37664646
DOI: 10.25100/cm.v54i2.5089 -
Canadian Medical Association Journal Nov 1964Ataxia-telangiectasia is a syndrome of progressive cerebellar ataxia and other neurological manifestations associated with conjunctival and cutaneous telangiectases and...
Ataxia-telangiectasia is a syndrome of progressive cerebellar ataxia and other neurological manifestations associated with conjunctival and cutaneous telangiectases and with recurrent sino-pulmonary infections. Immunological and endocrine abnormalities occur. Two girls with this disease are described. The first had only minor respiratory infections; her serum proteins and immunity responses appeared normal. The second had recurrent pulmonary infections and bronchiectasis; she also exhibited sclerodermatous changes, poor development of secondary sexual characteristics with low urinary excretion of 17-ketosteroids, and lymphopenia. Autopsy at 17 years showed bilateral ovarian dysgerminomata and excessive cutaneous collagen as well as atrophy, and perhaps hypoplasia, of adrenals, thymus, spleen and lymphoid tissue (after steroid therapy). The cerebellum exhibited cortical degeneration. Both lungs were fibrotic with old and recent bronchopneumonia and bronchiectasis. The left lung was studied by injection of a latex preparation; no arteriovenous aneurysms were found, but the smaller pulmonary vessels showed some unusual morphological characteristics.
Topics: 17-Ketosteroids; Adolescent; Ataxia; Ataxia Telangiectasia; Atrophy; Blood Protein Electrophoresis; Bronchiectasis; Cerebellar Diseases; Child; Conjunctiva; Dysgerminoma; Eosinophils; Female; Genetics, Medical; Humans; Hypogonadism; Immunoelectrophoresis; Infant; Infant, Newborn; Leukocyte Count; Lymphocytes; Neoplasms, Germ Cell and Embryonal; Neurologic Manifestations; Ovarian Neoplasms; Pathology; Pulmonary Circulation; Pulmonary Fibrosis; Scleroderma, Systemic; Telangiectasis; Urine
PubMed: 14229760
DOI: No ID Found -
World Journal of Pediatrics : WJP Jun 2022Since December 2019, the SARS-CoV-2 virus has been a global health issue. The main clinical presentation of this virus is a flu-like disease; however, patients with... (Review)
Review
BACKGROUND
Since December 2019, the SARS-CoV-2 virus has been a global health issue. The main clinical presentation of this virus is a flu-like disease; however, patients with diverse neurologic manifestations have also been reported. In this review, we attempt to summarize, discuss and update the knowledge of the neurologic manifestations in the pediatric population affected by SARS-CoV-2 infection and the pandemic's effects in children with neurologic diseases.
DATA SOURCES
This review analyzes studies found on the PubMed database using the following keywords: Neurologic manifestations COVID-19, Neurological COVID-19, coronavirus, SARS-CoV-2, pediatric COVID-19, COVID-19 in children, MIS-C, Pediatric Inflammatory Multisystem Syndrome, Guillain Barré Syndrome, Stroke, ADEM, and Anti-NMDA encephalitis. All studies cited were published between 2004 and 2022, and represent the most relevant articles in the field. The World Health Organization COVID-19 online dashboard was assessed to obtain updated epidemiological data.
RESULTS
The most common neurologic symptoms in the pediatric population are headache, seizures, encephalopathy, and muscle weakness. These can be present during COVID-19 or weeks after recovering from it. Children who presented with multi-system inflammatory syndrome had a higher incidence of neurologic manifestations, which conferred a greater risk of morbidity and mortality. Several neuro-pathophysiological mechanisms have been proposed, including direct virus invasion, hyper-inflammatory reactions, multi-systemic failure, prothrombotic states, and immune-mediated processes. On the other hand, the COVID-19 pandemic has affected patients with neurologic diseases, making it challenging to access controls, treatment, and therapies.
CONCLUSIONS
Various neurologic manifestations have been associated with children's SARS-CoV-2 infection. It is important to identify and give them proper and opportune treatment because they can be potentially grave and life-threatening; some can lead to long-lasting sequelae. Different neuro-pathophysiological mechanisms have been proposed, however, a causal relationship between SARS-CoV-2 infection and neurologic manifestations remains to be proven. Patients with neurologic diseases are especially affected by COVID-19, not only by the disease itself but also by its complications and pandemic management measures.
Topics: COVID-19; Child; Humans; Nervous System Diseases; Neurologists; Pandemics; SARS-CoV-2; Seizures; Systemic Inflammatory Response Syndrome
PubMed: 35476245
DOI: 10.1007/s12519-022-00550-4 -
Handbook of Clinical Neurology 2022In humans, several respiratory viruses can have neurologic implications affecting both central and peripheral nervous system. Neurologic manifestations can be linked to... (Review)
Review
In humans, several respiratory viruses can have neurologic implications affecting both central and peripheral nervous system. Neurologic manifestations can be linked to viral neurotropism and/or indirect effects of the infection due to endothelitis with vascular damage and ischemia, hypercoagulation state with thrombosis and hemorrhages, systemic inflammatory response, autoimmune reactions, and other damages. Among these respiratory viruses, recent and huge attention has been given to the coronaviruses, especially the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic started in 2020. Besides the common respiratory symptoms and the lung tropism of SARS-CoV-2 (COVID-19), neurologic manifestations are not rare and often present in the severe forms of the infection. The most common acute and subacute symptoms and signs include headache, fatigue, myalgia, anosmia, ageusia, sleep disturbances, whereas clinical syndromes include mainly encephalopathy, ischemic stroke, seizures, and autoimmune peripheral neuropathies. Although the pathogenetic mechanisms of COVID-19 in the various acute neurologic manifestations are partially understood, little is known about long-term consequences of the infection. These consequences concern both the so-called long-COVID (characterized by the persistence of neurological manifestations after the resolution of the acute viral phase), and the onset of new neurological symptoms that may be linked to the previous infection.
Topics: COVID-19; Humans; Nervous System Diseases; Peripheral Nervous System Diseases; SARS-CoV-2; Seizures; Post-Acute COVID-19 Syndrome
PubMed: 36031313
DOI: 10.1016/B978-0-323-91532-8.00004-5 -
Frontiers in Medicine 2022Ehlers-Danlos syndrome (EDS) is a rare, genetically variable, heterogenous group of (currently recognized) thirteen connective tissue disorders characterized by skin... (Review)
Review
Ehlers-Danlos syndrome (EDS) is a rare, genetically variable, heterogenous group of (currently recognized) thirteen connective tissue disorders characterized by skin hyperextensibility, tissue fragility, and generalized joint hypermobility. In addition to these commonly recognized phenotypes, recent studies have notably highlighted variable ophthalmic features in EDS. In this review, we comprehensively gather and discuss the ocular manifestations of EDS and its thirteen subtypes in the clinical setting.
PubMed: 36237549
DOI: 10.3389/fmed.2022.996458 -
The Egyptian Journal of Neurology,... 2021COVID-19 infection can show various manifestation, including neurologic manifestations, such as , , or , and causes the neurologic disorder such as stroke,... (Review)
Review
BACKGROUND
COVID-19 infection can show various manifestation, including neurologic manifestations, such as , , or , and causes the neurologic disorder such as stroke, Guillain-Barre syndrome, encephalopathy, and many more.
AIM
To briefly review neurologic manifestation in COVID-19 infection in the Asia region (South East Asia and the Western Pacific Region).
MATERIAL AND METHODS
This review uses the PRISMA statement and checklist. The source for reviewed article was performed in PubMed that were published between December 2019 to September 2020 with the latest 1 year of publication. Study titles were first screened, then reviewed by title and abstract and then the last review, we tested full text and applied eligibility criteria.
RESULTS
We found a total of 9 retrieved articles from the electronic database. Among these 9 articles, 5 of them are case report, 1 case series, 1 prospective multi-center cohort study, 1 retrospective multi-center study, and 1 retrospective observational study. All articles reported confirmed COVID-19, confirmation by positive swab test using the real-time RT-PCR method, with neurologic manifestations, disorder, or syndrome on presentation or found during hospital stay. In case of neurologic disorder or syndrome, the studies reported encephalitis and ADEM, acute cerebrovascular disease, acute symptomatic seizure, and Guillain-Barré syndrome with acute cerebrovascular disease as the most common neurologic disorder associated with COVID-19 infection, followed by encephalitis.
CONCLUSION
COVID-19 also affects the brain, which may result in a global or focal neurologic manifestation. Healthcare provider treating patient with COVID-19 infection should also be aware of neurologic manifestation associated with COVID-19 infection to improve patient's outcome.Guillain-Barre syndrome, encephalopathy, and many more. This review will briefly review neurologic manifestation in COVID-19 infection in the Asian region (South East Asia and the Western Pacific Region. A total of 9 retrieved articles from the electronic database reported confirmed COVID-19, confirmation by RT-PCR method, with neurologic manifestation, disorder, or syndrome on presentation or found during hospital stay. Healthcare provider treating patient with COVID-19 infection should also be aware of neurologic manifestation associated with COVID-19 infection to improve patient's outcome.
PubMed: 33613024
DOI: 10.1186/s41983-021-00279-3