eNeurologicalSci最新文献

Objective

To systematically evaluate post-exercise outcomes related to function and quality of life in people with ALS.

Methods

PRISMA guidelines were used for identifying and extracting articles. Levels of evidence and quality of articles were judged based on The Oxford Centre for Evidence-based Medicine Levels of Evidence and the QualSyst. Outcomes were analyzed with Comprehensive Meta-Analysis V2 software, random effects models, and Hedge's G. Effects were examined at 0–4 months, up to 6 months, and > 6 months. Pre-specified sensitivity analyses were performed for 1) controlled trials vs. all studies and 2) ALSFRS-R bulbar, respiratory, and motor subscales. Heterogeneity of pooled outcomes was computed with the I² statistic.

Results

16 studies and seven functional outcomes met inclusion for the meta-analysis. Of the outcomes explored, the ALSFRS-R demonstrated a favorable summary effect size and had acceptable heterogeneity and dispersion. While FIM scores demonstrated a favorable summary effect size, heterogeneity limited interpretations. Other outcomes did not demonstrate a favorable summary effect size and/or could not be reported due to few studies reporting outcomes.

Conclusions

This study provides inconclusive guidance regarding exercise regimens to maintain function and quality of life in people with ALS due to study limitations (e.g., small sample size, high attrition rate, heterogeneity in methods and participants, etc.). Future research is warranted to determine optimal treatment regimens and dosage parameters in this patient population.

Background

Limbic encephalitis (LE) is a rare variant of autoimmune encephalitis. It often manifests with subacute neuropsychiatric symptoms of agitation, delusions, variable seizure semiology, and short-term memory loss. Seronegative limbic encephalitis can pose a diagnostic conundrum owing to its inadequately understood pathophysiology.

Case presentation

We report a rare case of a young male with subacute neuropsychiatric manifestations of delusions, agitations and seizures. He was diagnosed with seronegative limbic encephalitis (SNLE). Brain MRI demonstrated bilateral Claustrum sparing sign. An EEG showed continuous left-sided epileptiform discharges in periodic to predominantly left middle temporal. Patient condition gradually improved with pulsed methylprednisolone, intravenous immunoglobulins and anti-seizure medications.

Conclusion

Claustrum remains one of the least understood neuroanatomical structures. Claustrum sign has been reported in febrile infection-related epilepsy syndrome (FIRES), LE, and autoimmune refractory epilepsy. To the best of our knowledge, we report the first case in literature with Claustrum sparing sign in seronegative Limbic Encephalitis. Further experimental models and researches are warranted to better understand the unique function of the claustrum and unravel possible other attributable auto-antibodies, which could alter treatment and prognosis.

P/Q-type Ca²⁺ flux into nerve terminals via Ca_V2.1 channels is essential for neurotransmitter release at neuromuscular junctions and nearly all central synapses. Mutations in CACNA1A, the gene encoding Ca_V2.1, cause a spectrum of pediatric neurological disorders. We have identified a patient harboring an autosomal-dominant de novo frameshift-causing nucleotide duplication in CACNA1A (c.5018dupG). The duplicated guanine precipitated 43 residues of altered amino acid sequence beginning with a glutamine to serine substitution in Ca_V2.1 at position 1674 ending with a premature stop codon (Ca_V2.1 p.Gln1674Serfs*43). The patient presented with episodic downbeat vertical nystagmus, hypotonia, ataxia, developmental delay and febrile seizures. In patch-clamp experiments, no Ba²⁺ current was observed in tsA-201 cells expressing Ca_V2.1 p.Gln1674Serfs*43 with β₄ and α₂δ-1 auxiliary subunits. The ablation of divalent flux in response to depolarization was likely attributable to the inability of Ca_V2.1 p.Gln1674Serfs*43 to form a complete channel pore. Our results suggest that the pathology resulting from this frameshift-inducing nucleotide duplication is a consequence of an effective haploinsufficiency.

Eagle Syndrome is a pain syndrome of rare and unwonted incidence. Forbearer has an elongated styloid process or a calcified stylohyoid ligament, suppressing glossopharyngeal nerve leading to a mélange of symptoms including sporadic cervicofacial pain, headache, and foreign body sensation. Here we present case of a 65 year old military man of south Asian origin, who presented with complaints of sudden episodes of blackouts for past five years and pain in neck while turning head to left for past two months.

Patient's ultrasound Doppler showed marked narrowing of proximal left internal carotid artery with approximate diametric stenosis of 70% according to The North American Symptomatic Carotid Endarterectomy Trial (NASCET).Further studies of MRI Brain was done,revealing small Foci of restricted diffusion along Territory of Left MCA along with age related Microangiopathic cerebral changes. CT Scan of neck was also done which showed Abnormal elongation of bilateral styloid process more on the left side.

The case was discussed in a Multidisciplinary Team Meeting comprising ENT surgeon, vascular surgeon and surgical excision was planned through trans cervical approach. Surgery was successful as seen by post op and follow up scans.

Optical coherence tomography (OCT) is a non-invasive tool to measure thickness of various layers of retina. Recently, retinal nerve fibre layer (RNFL) and ganglion cell and inner plexiform layer (GCIP) thinning has been observed in OCT in patients with multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD), This study compared OCT profile, along with visual acuity (VA), color vision (CV), contrast saturation (CS) and visual evoked potentials (VEP) in two main cohorts of MS and NMOSD and with controls, during acute episode of optic neuritis (ON), at 3 and 6 months.

We found that changes of ON were present in 75% of MS eyes and in 45% of NMOSD patients. Of these, subclinical involvement was present in 56.25% of MS eyes and only in 5% of NMOSD eyes suggesting frequent subclinical involvement in the former. Mean RNFL was 95.23 ± 15.53 in MS and 66.14 ± 43.73 in NMOSD after 6 months of ON episode. Thinning of NQ and IQ was observed in NMOSD eyes in the immediate period after ON attack. At 6 months relative sparing of RNFL in TQ was observed in NMOSD ON eyes and MS ON showed predilection for involvement of TQ.

Background

Autonomic dysfunction including sudomotor abnormalities have been reported in association with SARS-CoV-2 infection.

Objective

There are no previous studies that have compared autonomic function objectively in patients pre- and post- SARS-CoV-2 infection.

We aimed to identify if SARS-CoV-2 virus is triggering and/or worsening dysautonomia by comparing autonomic function tests in a group of patients pre-and post-SARS-CoV-2 infection.

Design/methods

Six participants were enrolled and divided into two groups. The first group of 4 participants reported worsened autonomic symptoms post-SARS-CoV-2 infection. These individuals had their first autonomic test prior to COVID-19 pandemic outbreak (July 2019–December 2019). Autonomic function testing was repeated in these participants, 6 months to 1-year post-SARS-CoV-2 infection (June 2021).

The second group of 2 participants reported new-onset autonomic symptoms post-COVID-19 infection and were also tested within 6 months post-SARS-CoV-2 infection.

All participants had mild COVID-19 infection per WHO criteria. They had no evidence of large fiber neuropathy as demonstrated by normal neurophysiological studies (EMG/NCS). They were all screened for known causes of autonomic dysfunction and without risk factors of hypertension/hyperlipidemia, thyroid dysfunction, diabetes/prediabetes, vitamin deficiencies, history of HIV, hepatitis, or syphilis, prior radiation or chemical exposure or evidence of monoclonal gammopathy, or autoimmune condition.

Results

Participants were female (age: 21-37y) and all endorsed orthostatic intolerance (6/6). Gastrointestinal symptoms (⅚), new-onset paresthesias, (3/6), and sexual dysfunction (2/6) were reported. Parasympathetic autonomic function remained stable 6-months to 1-year post-COVID-19 infection and no parasympathetic dysfunction was demonstrated in participants with new-onset dysautonomia symptoms. Postural orthostatic tachycardia was noted in half of the patients, being observed in one patient pre- SARS-CoV-2 infection and persisting post-SARS-CoV-2 infection; while new-onset postural tachycardia was observed in 1/3rd of patients. Sympathetic cholinergic (sudomotor) dysfunction was demonstrated in ALL participants. Worsened, or new-onset, sudomotor dysfunction was demonstrated in those with mild or normal sudomotor function on pre-COVID-19 autonomic testing.

Conclusions

Sympathetic adrenergic and cholinergic dysautonomia probably account for some of the symptoms of Long COVID-19. Sudomotor dysfunction was demonstrated as consistently worsened or new-sequelae to COVID-19 infection. COVID-19 may be responsible for triggering new-onset or worsened small-fiber neuropathy in this sample, supporting previously reported studies with similar findings. However, the findings in our study are preliminary, and studies with larger sample siz