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Video head impulse testing in patients with isolated (hemi)nodular infarction
ConclusionsUsing quantitative, video-based testing of the horizontal and vertical aVOR, preserved integrity of the aVOR in (hemi)nodular strokes was confirmed, extending preliminary findings at the bedside. Furthermore, widespread deficits of both ocular stability, postural control and volitional eye movements were observed in our study cohort, being consistent with findings reported in previous studies.
Source: Frontiers in Neurology - February 6, 2023 Category: Neurology Source Type: research

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report
We reported the case of an adult-onset KD presenting with progressive myoclonic epilepsy (PME) and cortical lesions mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. The whole-exome sequencing (WES) identified a pathogenic homozygous missense mutation of the GALC gene. Parents of the patient were heterozygous for the mutation. The clinical, electrophysiological, and radiological data of the patient were retrospectively analyzed. The patient was a 24-year-old woman presenting with generalized seizures, progressive cognitive decline, psychiatric symptoms, gait ataxia, and ...
Source: Frontiers in Neurology - October 21, 2022 Category: Neurology Source Type: research

Case report: Acute vestibular syndrome and cerebellitis in anti-Yo paraneoplastic syndrome
We report three patients evaluated over the past decade with an acute AVS along with subtle downbeat nystagmus (DBN), followed by dysarthria and progressive truncal and limb ataxia, as well as increasing DBN intensity.MethodsAll patients underwent neurologic examination, video-oculography, MRI, serum cancer markers, spinal fluid examination, paraneoplastic panel testing, and oncologic workup. With a consolidated diagnosis of cancer/paraneoplastic syndrome, we treated with plasma exchange (PLEX), high-dose steroids, surgery, and oncologic investigation. We additionally provided oncotherapy in one out of three patients.Resul...
Source: Frontiers in Neurology - August 26, 2022 Category: Neurology Source Type: research

Sex Equitable Prehospital Stroke Triage Using Symptom Severity and Teleconsultation
Conclusions: The SSTS had equal predictive performance for LAO and EVT among men and women, despite minor sex differences in the clinical characteristics in patients undergoing ambulance transport for suspected stroke.
Source: Frontiers in Neurology - November 29, 2021 Category: Neurology Source Type: research

MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies
Discussion: Our study demonstrated that MTND genes are important mutation hot spots in MELAS/LS overlap syndrome. The follow-up is very important for the final diagnosis of overlap syndrome.
Source: Frontiers in Neurology - May 7, 2021 Category: Neurology Source Type: research

Creutzfeldt-Jakob and Vascular Brain Diseases: Their Overlap and Relationships
In conclusion, a complex of clinical, radiological, and laboratory manifestations of stroke-like onset of CJD is outlined. The clinical relationships between CJD and stroke are considered, in an attempt to highlight this rare presentation of an uncommon disease.
Source: Frontiers in Neurology - February 25, 2021 Category: Neurology Source Type: research

CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series
Conclusion: Since CADASIL is a rare disease, it is imperative to raise awareness of its unique clinical condition as well as variation in its clinical presentations. It is crucial that the overlapping symptoms between MS and CADASIL be thoroughly examined to avoid misdiagnosis and treatment complications. The involvement of autoimmune mechanisms in CADASIL and the role of NOTCH3 gene mutations in provoking an autoimmune process should be further investigated.
Source: Frontiers in Neurology - September 3, 2020 Category: Neurology Source Type: research

A Case Report of Sporadic Adult Neuronal Intranuclear Inclusion Disease (NIID) With Stroke-Like Onset
Conclusion: This case demonstrates the strong clinical heterogeneity of NIID. NIID can manifest as acute hemiplegia and a stroke-like attack. This case study provides new information for the diagnosis of NIID and the classification of the clinical characteristics.
Source: Frontiers in Neurology - June 9, 2020 Category: Neurology Source Type: research

Medical and Paramedical Care of Patients With Cerebellar Ataxia During the COVID-19 Outbreak: Seven Practical Recommendations of the COVID 19 Cerebellum Task Force
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV2), the cause of the current pandemic coronavirus disease 2019 (COVID-19), primarily targets the respiratory system. Some patients also experience neurological signs and symptoms ranging from anosmia, ageusia, headache, nausea, and vomiting to confusion, encephalitis, and stroke. Approximately 36% of those with severe COVID-19 experience neurological complications. The virus may enter the central nervous system through the olfactory nerve in the nasal cavity and damage neurons in the brainstem nuclei involved in the regulation of respiration. Patients with cerebe...
Source: Frontiers in Neurology - May 21, 2020 Category: Neurology Source Type: research

MEDICAL AND PARAMEDICAL CARE OF PATIENTS WITH CEREBELLAR ATAXIA DURING THE COVID-19 OUTBREAK: 7 PRACTICAL RECOMMENDATIONS The COVID 19 Cerebellum Task Force
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV2), the cause of current coronavirus disease 2019 (COVID-19), primarily targets the respiratory system. Some patients also experience neurologic signs and symptoms ranging from anosmia, ageusia, headache, nausea and vomiting to confusion, encephalitis and stroke. Approximately 36% of those with severe COVID-19 experience neurological complications. The virus may enter the central nervous system through the olfactory nerve in the nasal cavity and damage neurons in the brainstem nuclei involved in the regulation of respiration. Patients with cerebellar ataxia (CA) ...
Source: Frontiers in Neurology - May 21, 2020 Category: Neurology Source Type: research

Intravenous Thrombolysis in Posterior Circulation Stroke
Conclusions: Up to date, no data about PCIS and IVT are available from RTCs. Based on limited results from retrospective clinical studies and case series, IVT is safer for use in PCIS than in ACIS. Patients with brainstem ischemia, vertebral artery occlusion, and absence of basilar or posterior cerebral artery occlusion could be considered for treatment with IVT even in borderline cases. Time to IVT in PCIS seems to be a less crucial factor than in ACIS. IVT for PCIS may be beneficial even after 4.5 h from symptom onset. Introduction History of Intravenous Thrombolysis—The Most Relevant Studies Intravenous...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
Conclusion A novel GJB1 variant of c.-170T>G in non-coding region was found in this big Chinese CMTX1 pedigree. This is the first report of variant in non-coding DNA sequence associated with transient CNS symptoms. Thyroid malfunction may contribute to the CNS symptoms in this case. Ethics Statement This study has been reviewed and approved by the Ethics Committee of the China-Japan Union Hospital of Jilin University. Each member of the family provided written informed consent to the participation in the study, the genetic test, and authorized to publish the study including the photos in accordance with the Decl...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T > C Mutation in the Mitochondrial MTND3 Gene
Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T...
Source: Frontiers in Neurology - April 17, 2019 Category: Neurology Source Type: research