The Spanish Gaucher Registry. An Observatoire To Detect Neurological Manifestations in Patients and Relatives.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3850-3850
Author(s):  
Pilar Giraldo ◽  
Pilar Alfonso ◽  
Paz Latre ◽  
Angeles M. Fernandez-Galan ◽  
Dora Alonso ◽  
...  
Keyword(s):  
Essential Tremor ◽  
Image Data ◽  
Epidemiological Survey ◽  
Correlation Study ◽  
Neurological Symptoms ◽  
Neurological Manifestations ◽  
Non Profit ◽  
Rare Mutations ◽  
Pearson Coefficient ◽  
Neurological Exam

Abstract Background: The Spanish Gaucher Foundation (FEETEG) is an independent and non-profit organization that keeps the Spanish Gaucher Registry (SGR) established in 1993. This SGR contains demographic, genetic, clinical, analytical and image data from a cohort of 306 Gaucher Disease (GD) patients (269 GD1, 22 GD2, 16 GD3), and 751 relatives. The SGR is a useful tool to perform epidemiological-genetic studies and analyse associated comorbilities. Patients and Methods: From January to July 2006 an epidemiological survey to physicians and to the patients through GD Associations was conducted to ascertain the incidence of neurological symptoms in patients and their relatives as well as analyse genotype-phenotype relationship. The statistical analysis was performed in a SPSS 12.0 database using descriptive parameters, ANOVA, t-test and correlation study including Pearson coefficient. Results: Twenty-four (38.7%) out of 62 GD1 patient respondents from 56 families have neurological symptoms, 8 (12.5%) tremor, 8 (12.5%) uncoordinated movements, 11 (17.7%) concentration defects, 3 (4.8%) strabismus and 8 (12.5%) deafness, 3 (4.8%) Parkinson Disease (PD). Twenty-one out of 56 families have one or more relatives with neurological manifestations. There were 29(8.6%) out of 336 relatives with neurological symptoms:13 (3.8%) PD, 5 (1.5%) epilepsy, 6 (1.8%) essential tremor, 5 (1.5%) others. Subjects with PD were carriers of mutations:: S364R, G202R, V398I, R47X, L336P, L444P, G195W, recNci and insertion alleles. In families with epilepsy the predominant carrier mutations were: L444P, G195W, R130W and in essential tremor: L444P. Comments: There is a high incidence of neurological symptoms between GD1 patients and carriers. These manifestations appear frequently in carriers of rare mutations. It is very recommendable to perform a systematic neurological exam in GD1 patients and in carriers with risk mutations.

Neurological Manifestations in Gaucher Disease Patients and Relatives.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 3838-3838
Author(s):  
Pilar Giraldo ◽  
Pilar Alfonso ◽  
Paz Latre ◽  
Miguel Pocovi ◽  
Keyword(s):  
Peripheral Neuropathy ◽  
Gaucher Disease ◽  
Wide Spectrum ◽  
Correlation Study ◽  
Postal Survey ◽  
Neurological Symptoms ◽  
Neurological Manifestations ◽  
Genetic Characteristics ◽  
Neurological Problem

Abstract Aims: Gaucher disease (GD) is characterized by a wide spectrum of manifestations. Several reports have indicated that GD relatives could developed neurological abnormalities. In order to detect neurological symptoms in GD patients and their relatives we have designed a specific prospective inquiry in Spanish GD families. Patients and Methods: the Spanish GD Registry is an independent registry working since 1993, sponsored by the Spanish Gaucher Foundation (FEETEG). From January to December 2006 we have perform a postal survey contacting 42 physicians and 92 families to evaluate neurological symptoms and correlated with genetic characteristics. The data were included in a SPSS 12.0 data base to perform statistical analysis using descriptive parameters, ANOVA, t-test and correlation study including Pearson coefficient. Results: We have obtained information from 72 families (78.3% responses) that included 92 type 1 and 7 type 3 GD patients and 266 relatives. Thirty (32.6%) of type 1 GD reported any neurological problem: tremor 8 (8.7%), uncordinated movements 9 (13.8%), concentration defects 11 (11.9%), strabismus 7 (7.6%), deafness 8 (8.7%), Parkinson disease (PD) 7 (7.6%), peripheral neuropathy 10 (10.9%). Thirty six (13.5%) first or second degrees relatives from 72 families presented neurological manifestations: PD 14 (5.3%), epilepsia 8 (3.0%), tremor 7 (2.6%), deafness 2 (0.7%), others 5 (1.9%). Patients with PD had mutations: S364R, D409H, L444P, [IVS2-2A>G]+ [c.(− 203)A>G], c.500insT, L336P. In relatives with PD a wide spectrum of mutations were observed: L444P, N370S, V398I, G202R, c.1439–1445del7, [E326K]+[N188S] and c.953delT, in others neurological manifestations as epilepsia, tremor or peripheral neuropathy predominant mutations were D409H, G195W, R120W; R147X, L336P and G377S. Conclusions: We have found a higher incidence than expected of PD and other neurological symptoms in GD1 patients and relatives. These manifestations appear frequently in carriers of L444P or rare mutations. It is important to perform a systematic neurological exam in GD1 patients and carriers with risk mutations. This work is partially supported by the grant FIS: 06/1253.

Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital

2020 ◽  
Vol 78 (8) ◽  
pp. 494-500 ◽  
Author(s):  
Adalberto STUDART-NETO ◽  
Bruno Fukelmann GUEDES ◽  
Raphael de Luca e TUMA ◽  
Antonio Edvan CAMELO FILHO ◽  
Gabriel Taricani KUBOTA ◽  
...  
Keyword(s):  
Neurological Diseases ◽  
Neuromuscular Disorders ◽  
Neurological Symptoms ◽  
University Hospital ◽  
Special Treatment ◽  
Nasal Swabs ◽  
Neurological Exam ◽  
Neurological Conditions ◽  
De Medicina

ABSTRACT Background: More than one-third of COVID-19 patients present neurological symptoms ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing neurological conditions may require special treatment and may be associated with worse outcomes. Notwithstanding, the role of neurologists in COVID-19 is probably underrecognized. Objective: The aim of this study was to report the reasons for requesting neurological consultations by internists and intensivists in a COVID-19-dedicated hospital. Methods: This retrospective study was carried out at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil, a 900-bed COVID-19 dedicated center (including 300 intensive care unit beds). COVID-19 diagnosis was confirmed by SARS-CoV-2-RT-PCR in nasal swabs. All inpatient neurology consultations between March 23rd and May 23rd, 2020 were analyzed. Neurologists performed the neurological exam, assessed all available data to diagnose the neurological condition, and requested additional tests deemed necessary. Difficult diagnoses were established in consensus meetings. After diagnosis, neurologists were involved in the treatment. Results: Neurological consultations were requested for 89 out of 1,208 (7.4%) inpatient COVID admissions during that period. Main neurological diagnoses included: encephalopathy (44.4%), stroke (16.7%), previous neurological diseases (9.0%), seizures (9.0%), neuromuscular disorders (5.6%), other acute brain lesions (3.4%), and other mild nonspecific symptoms (11.2%). Conclusions: Most neurological consultations in a COVID-19-dedicated hospital were requested for severe conditions that could have an impact on the outcome. First-line doctors should be able to recognize neurological symptoms; neurologists are important members of the medical team in COVID-19 hospital care.

scholarly journals Neurological symptoms, manifestations, and complications associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and coronavirus disease 19 (COVID-19)

2021 ◽  
Author(s):  
Biyan Nathanael Harapan ◽  
Hyeon Joo Yoo
Keyword(s):  
Severe Acute Respiratory Syndrome ◽  
Case Reports ◽  
Case Series ◽  
Altered Mental Status ◽  
Neurological Complications ◽  
Neurological Symptoms ◽  
Neurological Manifestations ◽  
Fisher Syndrome ◽  
Novel Coronavirus ◽  
The Impact

AbstractSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a novel coronavirus, is responsible for the outbreak of coronavirus disease 19 (COVID-19) and was first identified in Wuhan, China in December 2019. It is evident that the COVID-19 pandemic has become a challenging world issue. Although most COVID-19 patients primarily develop respiratory symptoms, an increasing number of neurological symptoms and manifestations associated with COVID-19 have been observed. In this narrative review, we elaborate on proposed neurotropic mechanisms and various neurological symptoms, manifestations, and complications of COVID-19 reported in the present literature. For this purpose, a review of all current published literature (studies, case reports, case series, reviews, editorials, and other articles) was conducted and neurological sequelae of COVID-19 were summarized. Essential and common neurological symptoms including gustatory and olfactory dysfunctions, myalgia, headache, altered mental status, confusion, delirium, and dizziness are presented separately in sections. Moreover, neurological manifestations and complications that are of great concern such as stroke, cerebral (sinus) venous thrombosis, seizures, meningoencephalitis, Guillain–Barré syndrome, Miller Fisher syndrome, acute myelitis, and posterior reversible encephalopathy syndrome (PRES) are also addressed systematically. Future studies that examine the impact of neurological symptoms and manifestations on the course of the disease are needed to further clarify and assess the link between neurological complications and the clinical outcome of patients with COVID-19. To limit long-term consequences, it is crucial that healthcare professionals can early detect possible neurological symptoms and are well versed in the increasingly common neurological manifestations and complications of COVID-19.

scholarly journals Atypical Manifestation of Polyneuropathy in Covid-19

2021 ◽  
Author(s):  
Nayara de Lima Froio ◽  
Ana Luisa Rosas Sarmento ◽  
Sonia Maria Cesar de Azevedo Silva ◽  
Lilia Azzi Collet da Rocha Camargo
Keyword(s):  
Case Report ◽  
Physical Therapy ◽  
Sore Throat ◽  
Neurological Symptoms ◽  
Lower Limbs ◽  
Neurological Manifestations ◽  
Sensory Motor ◽  
Hands And Feet ◽  
Atypical Manifestation

Context: Neurological manifestations of Sars-CoV-2 are progressively emerging. Cases of Guillain-Barré syndrome and its variants, with onset about 5-10 days after influenza symptoms, have been described. This paper reports a case of polyneuropathy with onset 90 days after a sore throat episode and persistence of IgM positivity in serology for Sars- Cov-2. We aim to raise awareness of this possibility. Case Report: A 56-year-old male, hypertensive, presented with sore throat on April 21, 2020. Serology for Covid-19 was performed with positive IgM. There was complete improvement of the symptom. At the end of July, he started a symmetrical paresthesia in the feet with ascension to the knees and, on August 20, paresthesia in the hands too. So, he went to IAMSPE (SP) and tactile and painful hypoesthesia in hands and feet, hypopalesthesia in lower limbs, a fall in the lower limbs upon Mingazzini’s maneuver, global hyporeflexia and talon gait were found. Just the following tests were changed: second Covid-19 serology IgM and IgG positives; ENMG: sensory motor polyneuropathy, primarily axonal, with signs of chronicity and without signs of acute denervation in the current. Started gabapentin and physical therapy. Patient still has paresthesia in hands and feet, but with partial improvement. Conclusion: This case alerts to neurological symptoms of Covid-19 in the medium and long term.

scholarly journals Neurological manifestations associated with SARS-CoV-2 infection: a narrative review

2021 ◽  
Author(s):  
Poliana Rafaela dos Santos Araújo ◽  
Kauan Alves Sousa Madruga ◽  
Bruna Alves Rocha ◽  
Lucas Oliveira Braga
Keyword(s):  
Nervous System ◽  
Meta Analysis ◽  
Neurological Complications ◽  
Neurological Symptoms ◽  
Narrative Review ◽  
Common Symptom ◽  
Neurological Manifestations ◽  
Cns Involvement ◽  
Pubmed Database ◽  
Critical Patients

Background: Coronavirus disease (COVID-19), once identified, soon spread globally, becoming a pandemic. Although patients present mainly with respiratory complaints, several neurological symptoms have been reported. Symptoms range from headache and nonspecific dizziness to seizures and cerebrovascular disease (CVD). It has also been shown that the severity of the infection is directly proportional to the development of neurological symptoms, especially CVD and changes in mental status. Objective: The present study aims to briefly review the neurological manifestations of COVID-19 and discuss the pathogenic mechanisms of Central Nervous System (CNS) involvement. Methods: This is an exploratory narrative review with a descriptive approach, consisting of an active search for scientific articles in the PubMed database. The descriptors “coronavirus infections”, “COVID-19” and “Nervous system” were used, with the Boolean operators “OR” and “AND”. Eighteen articles of systematic review and meta-analysis were included. Results: CNS manifestations included, among others: encephalitis, encephalopathy, consciousness decrease, headache, dizziness, acute myelitis, and stroke. As for the peripheral nervous system, skeletal muscle damage, chemosensory dysfunction, and Guillain-Barré syndrome were observed, with hyposmia being the most common symptom. CNS involvement may be related to a worse prognosis. Conclusion: The clinical involvement of the nervous system in COVID-19 is not uncommon, and can result in several neurological complications, especially in the most critical patients. The pathophysiological mechanisms of these events still need further investigation. In the meantime, physicians should value extra-respiratory symptoms ranging from hyposmia, to potentially fatal manifestations, such as stroke and encephalopathy.

scholarly journals Argentine Registry of neurological manifestations due to coronavirus-19 (COVID-19)

2021 ◽  
Author(s):  
Mariana Bendersky ◽  
Lucas Alessandro ◽  
Franco Appiani ◽  
Brenda Borrego Guerrero ◽  
Patricia Cairola ◽  
...  
Keyword(s):  
Demographic Variables ◽  
Neurological Symptoms ◽  
Neurological Manifestations ◽  
Cns Involvement ◽  
Term Care ◽  
Cerebrovascular Complications ◽  
Guillain Barré ◽  
Neurological Pathology ◽  
Degree Of Severity

COVID-19 disease has spread around the world since December 2019. Neurological symptoms are part of its clinical spectrum. Objective: To know the neurological manifestations in patients infected by COVID-19 in Argentina. Methods: Multicenter study conducted in adults, from May 2020 to January 2021, with confirmed COVID-19 and neurological symptoms. Demographic variables, existence of systemic or neurological comorbidities, the form of onset of the infection, alteration in complementary studies and the degree of severity of neurological symptoms were recorded. Results: 817 patients from all over the country were included, 52% male, mean age 38 years, most of them without comorbidities or previous neurological pathology. The first symptom of the infection was neurological in 56.2% of the cases, predominantly headache (69%), then anosmia / ageusia (66%). Myalgias (52%), allodynia / hyperalgesia (18%), and asthenia (6%) were also reported. 3.2% showed diffuse CNS involvement such as encephalopathy or seizures. 1.7% had cerebrovascular complications. Sleep disorders were observed in 3.2%. 6 patients were reported with Guillain Barre (GBS), peripheral neuropathy (3.4%), tongue paresthesia (0.6%), hearing loss (0.4%), plexopathy (0.3%). The severity of neurological symptoms was correlated with age and the existence of comorbidities. Conclusions: Our results, similar to those of other countries, show two types of neurological symptoms associated with COVID-19: some potentially disabling or fatal such as GBS or encephalitis, and others less devastating, but more frequent such as headache or anosmia that demand increasingly long-term care.

Migraine Headache in Patients with Sydenham's Chorea

Cephalalgia ◽  
2005 ◽  
Vol 25 (7) ◽  
pp. 542-544 ◽  
Author(s):  
AL Teixeira ◽  
FC Meira ◽  
DP Maia ◽  
MC Cunningham ◽  
F Cardoso
Keyword(s):  
Basal Ganglia ◽  
Rheumatic Fever ◽  
Essential Tremor ◽  
Migraine Headache ◽  
Neurological Symptoms ◽  
Tourette’S Syndrome ◽  
Sydenham’S Chorea ◽  
Sydenham's Chorea ◽  
Group 10 ◽  
Basal Ganglia Disorders

We compared the frequency of migraine among Sydenham's chorea (SC) patients, rheumatic fever (RF) patients without neurological symptoms and matched controls. Migraine was more frequent in SC patients (12/55, 21.8%) than in controls (9/110, 8.1%) and as common as in the RF group (10/55, 18.2%). Our data are in agreement with previous studies reporting higher frequency of migraine in other basal ganglia disorders, such as essential tremor and Tourette's syndrome.

scholarly journals Neurological Manifestations of Hospitalized Patients with COVID-19 in Wuhan, China: a retrospective case series study

2020 ◽  
Author(s):  
Ling Mao ◽  
Mengdie Wang ◽  
Shengcai Chen ◽  
Quanwei He ◽  
Jiang Chang ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Nervous System ◽  
Case Series ◽  
Cerebrovascular Diseases ◽  
Hospitalized Patients ◽  
Neurological Symptoms ◽  
Neurological Manifestations ◽  
Impaired Consciousness ◽  
Retrospective Case ◽  
Neurologic Symptoms

ABSTRACTOBJECTIVETo study the neurological manifestations of patients with coronavirus disease 2019 (COVID-19).DESIGNRetrospective case seriesSETTINGThree designated COVID-19 care hospitals of the Union Hospital of Huazhong University of Science and Technology in Wuhan, China.PARTICIPANTSTwo hundred fourteen hospitalized patients with laboratory confirmed diagnosis of severe acute respiratory syndrome from coronavirus 2 (SARS-CoV-2) infection. Data were collected from 16 January 2020 to 19 February 2020.MAIN OUTCOME MEASURESClinical data were extracted from electronic medical records and reviewed by a trained team of physicians. Neurological symptoms fall into three categories: central nervous system (CNS) symptoms or diseases (headache, dizziness, impaired consciousness, ataxia, acute cerebrovascular disease, and epilepsy), peripheral nervous system (PNS) symptoms (hypogeusia, hyposmia, hypopsia, and neuralgia), and skeletal muscular symptoms. Data of all neurological symptoms were checked by two trained neurologists.RESULTSOf 214 patients studied, 88 (41.1%) were severe and 126 (58.9%) were non-severe patients. Compared with non-severe patients, severe patients were older (58.7 ± 15.0 years vs 48.9 ± 14.7 years), had more underlying disorders (42 [47.7%] vs 41 [32.5%]), especially hypertension (32 [36.4%] vs 19 [15.1%]), and showed less typical symptoms such as fever (40 [45.5%] vs 92 [73%]) and cough (30 [34.1%] vs 77 [61.1%]). Seventy-eight (36.4%) patients had neurologic manifestations. More severe patients were likely to have neurologic symptoms (40 [45.5%] vs 38 [30.2%]), such as acute cerebrovascular diseases (5 [5.7%] vs 1 [0.8%]), impaired consciousness (13 [14.8%] vs 3 [2.4%]) and skeletal muscle injury (17 [19.3%] vs 6 [4.8%]).CONCLUSIONCompared with non-severe patients with COVID-19, severe patients commonly had neurologic symptoms manifested as acute cerebrovascular diseases, consciousness impairment and skeletal muscle symptoms.

scholarly journals MANIFESTAÇÕES NEUROLÓGICAS EM PACIENTES QUE CONTRAÍRAM COVID-19: UMA REVISÃO INTEGRATIVA DA LITERATURA

2021 ◽  
Vol 7 (7) ◽  
Author(s):  
Jhonson Tizzo Godoy ◽  
Milla Giancristofaro Dutra ◽  
Alexandre Antonio Agnolin ◽  
Ana Teresa Bittencourt Avila ◽  
Carolina Bohn Faccio ◽  
...  
Keyword(s):  
Neurological Symptoms ◽  
Neurological Manifestations

INTRODUÇÃO: O espectro da infecção do SARS-CoV-2 é amplo e predomina o acometimento respiratório. Estudos recentes, no entanto, têm demonstrado cada vez mais o acometimento extra respiratório, incluindo alterações neurológicas diversas. A presente revisão discorre sobre as principais manifestações neurológicas decorrentes da infecção por SARS-CoV-2 e suas consequências para os infectados. METODOLOGIA: Trata-se de uma revisão integrativa da literatura. As bases de dados utilizadas foram MEDLINE/PubMed, Scielo e LILACS. Os seguintes descritores foram utilizados: “Neurological manifestations”, “COVID-19” e “Neurological symptoms”. RESULTADOS: No mundo foram reportadas diversas manifestações neurológicas como as centrais (cefaleia, tontura, convulsões, meningite/encefalite, déficit cognitivo, AVC), periféricas  (analgesia, anosmia) e musculoesqueléticas. As mais frequentemente observadas foram tontura e cefaléia. DISCUSSÃO: O mecanismo de neuro invasão ainda não está totalmente esclarecido, mas as evidências mostram que se deve haver lesão direta, imunomediada ou decorrente de hipóxia, além de eventos secundários relacionados a distúrbios sistêmicos, como sepse, hiperpirexia  hipercoagulabilidade etc. A agressividade dos sintomas pode variar desde as mais leves até predispor manifestações graves como doenças cerebrovasculares agudas. CONCLUSÃO: As  manifestações neurológicas apresentaram-se sob diferentes formas e ainda são necessários mais  ensaios clínicos para analisar a fisiopatologia do SARS-CoV-2 no sistema nervoso, assim como suas consequências tardias.

scholarly journals Myoclonus Associated with Celiac Disease Responsive to Anti-Epileptics and a Gluten-Free Diet

2021 ◽  
pp. 282-289
Author(s):  
Youstina Hanna ◽  
Parul Tandon ◽  
Zane Gallinger
Keyword(s):  
Celiac Disease ◽  
Movement Disorder ◽  
Neurological Symptoms ◽  
Gluten Free Diet ◽  
Gluten Free ◽  
Neurological Manifestations ◽  
Disease Phenotype ◽  
Intention Tremor ◽  
Myoclonic Movement

We report on the case of a 61-year-old male who initially presented with a progressive myoclonus and an intention tremor and was subsequently diagnosed with celiac disease. His neurological symptoms improved with anti-epileptic therapy and a gluten-free diet. Possible explanations include a milder disease phenotype or an epileptic component to his myoclonic movement disorder. This case highlights findings of a progressive myoclonic movement disorder, likely linked to celiac disease, and stresses the importance of a gluten-free diet in the management of the neurological manifestations of celiac disease.

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