scholarly journals Neurochondrin neurological autoimmunity

2019 ◽  
Vol 6 (6) ◽  
pp. e612 ◽  
Author(s):  
Shahar Shelly ◽  
Thomas J. Kryzer ◽  
Lars Komorowski ◽  
Ramona Miske ◽  
Mark D. Anderson ◽  
...  
Keyword(s):  
Vocal Cord Paralysis ◽  
Molecular Layer ◽  
Cerebellar Atrophy ◽  
Immunofluorescence Assay ◽  
Onset Age ◽  
Neurologic Outcomes ◽  
Progressive Cerebellar Ataxia ◽  
Stratum Lucidum ◽  
Protein Assays

ObjectivesTo describe the neurologic spectrum and treatment outcomes for neurochondrin-IgG positive cases identified serologically in the Mayo Clinic Neuroimmunology Laboratory.MethodsArchived serum and CSF specimens previously scored positive for IgGs that stained mouse hippocampal tissue in a nonuniform synaptic pattern by immunofluorescence assay (89 among 616,025 screened, 1993–2019) were reevaluated. Antibody characterization experiments revealed specificity for neurochondrin, confirmed by recombinant protein assays.ResultsIgG in serum (9) or CSF (4) from 8 patients yielded identical neuron-restricted CNS patterns, most pronounced in hippocampus (stratum lucidum in particular), cerebellum (Purkinje cells and molecular layer), and amygdala. All were neurochondrin-IgG positive. Five were women; median symptom onset age was 43 years (range, 30–69). Of 7 with clinical data, 6 presented with rapidly progressive cerebellar ataxia, brainstem signs, or both; 1 had isolated unexplained psychosis 1 year prior. Five of 6 had cerebellar signs, 4 with additional brainstem symptoms or signs (eye movement abnormalities, 3; dysphagia, 2; nausea and vomiting, 1). One patient with brainstem signs (vocal cord paralysis and VII nerve palsy) had accompanying myelopathy (longitudinally extensive abnormality on MRI; aquaporin-4-IgG and myelin oligodendrocyte glycoprotein-IgG negative). The 7th patient had small fiber neuropathy only. Just 1 of 7 had contemporaneous cancer (uterine). Six patients with ataxia or brainstem signs received immunotherapy, but just 1 remained ambulatory. At last follow-up, 5 had MRI evidence of severe cerebellar atrophy.ConclusionIn our series, neurochondrin autoimmunity was usually accompanied by a nonparaneoplastic rapidly progressive rhombencephalitis with poor neurologic outcomes. Other phenotypes and occasional paraneoplastic causes may occur.

scholarly journals Autoimmune septin-5 cerebellar ataxia

2018 ◽  
Vol 5 (5) ◽  
pp. e474 ◽  
Author(s):  
Josephe A. Honorat ◽  
A. Sebastian Lopez-Chiriboga ◽  
Thomas J. Kryzer ◽  
James P. Fryer ◽  
Michelle Devine ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Recombinant Protein ◽  
Western Blot ◽  
Cerebellar Ataxia ◽  
Molecular Layer ◽  
Immunofluorescence Assay ◽  
Mass Spectrometry Analysis ◽  
Antigen Specificity ◽  
Spectrometry Analysis ◽  
Protein Assays

ObjectiveTo report a form of autoimmune cerebellar ataxia in which antibodies target septin-5, a guanosine triphosphate (GTP)-binding neural protein involved in neurotransmitter exocytosis.MethodsArchived sera and CSF specimens with unclassified synaptic antibodies were re-evaluated by tissue-based indirect immunofluorescence assay. Autoantigens were identified by Western blot and mass spectrometry. Recombinant protein assays (Western blot, cell based, and protein screening array) confirmed antigen specificity.ResultsSerum and CSF from 6 patients produced identical synaptic immunoglobulin G (IgG) staining patterns of synaptic regions (neuropil) of the mouse cerebrum and cerebellum. The molecular layer of the cerebellum and the thalamus demonstrated stronger immunoreactivity than the midbrain, hippocampus, cortex, and basal ganglia. The antigen revealed by mass spectrometry analysis of immunoprecipitated cerebellar proteins and confirmed by recombinant protein assays was septin-5. All 4 patients with records available had subacute onset of cerebellar ataxia with prominent eye movement symptoms (oscillopsia or vertigo). None had cancer detected. Improvements occurred after immunotherapies (2) or spontaneously (1). One patient died.ConclusionSeptin-5 IgG represents a biomarker for a potentially fatal but treatable autoimmune ataxia.

scholarly journals Neurological Evaluation of Patients with Newly Diagnosed Coeliac Disease Presenting to Gastroenterologists: A 7-Year Follow-Up Study

Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1846
Author(s):  
Marios Hadjivassiliou ◽  
Iain D. Croall ◽  
Richard A. Grünewald ◽  
Nick Trott ◽  
David S. Sanders ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Brain Imaging ◽  
Cerebellar Atrophy ◽  
Neurological Dysfunction ◽  
Close Monitoring ◽  
Newly Diagnosed ◽  
Positive Serology ◽  
Original Cohort ◽  
Follow Up Study

We have previously shown that 67% of patients with newly diagnosed coeliac disease (CD) presenting to gastroenterologists have evidence of neurological dysfunction. This manifested with headache and loss of co-ordination. Furthermore 60% of these patients had abnormal brain imaging. In this follow-up study, we re-examined and re-scanned 30 patients from the original cohort of 100, seven years later. There was significant reduction in the prevalence of headaches (47% to 20%) but an increase in the prevalence of incoordination (27% to 47%). Although those patients with coordination problems at baseline reported improvement on the gluten free diet (GFD), there were 7 patients reporting incoordination not present at baseline. All 7 patients had positive serology for one or more gluten-sensitivity related antibodies at follow-up. In total, 50% of the whole follow-up cohort were positive for one or more gluten-related antibodies. A comparison between the baseline and follow-up brain imaging showed a greater rate of cerebellar grey matter atrophy in the antibody positive group compared to the antibody negative group. Patients with CD who do not adhere to a strict GFD and are serological positive are at risk of developing ataxia, and have a significantly higher rate of cerebellar atrophy when compared to patients with negative serology. This highlights the importance of regular review and close monitoring.

Sleep duration, sleep problems and perceived stress are associated with hippocampal subfield volumes in later life: Findings from The Irish Longitudinal Study on Ageing (TILDA)

SLEEP ◽  
2021 ◽  
Author(s):  
Céline De Looze ◽  
Joanne C Feeney ◽  
Siobhan Scarlett ◽  
Rebecca Hirst ◽  
Silvin P Knight ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Sleep Duration ◽  
Perceived Stress ◽  
Sleep Problems ◽  
Molecular Layer ◽  
Hippocampal Volume ◽  
Ordinary Least Squares ◽  
Cross Sectional ◽  
Stress Changes

Abstract Study Objectives This study examines the cross-sectional and two-year follow-up relationships between sleep and stress and total hippocampal volume and hippocampal subfield volumes among older adults. Methods 417 adults (aged 68.8±7.3; 54% women) from the Irish Longitudinal Study on Ageing completed an interview, a questionnaire and multiparametric brain MRI. The relationships between self-reported sleep duration, sleep problems, perceived stress and total hippocampal volume were examined by using ordinary least squares regressions. Linear mixed-effects models were used to investigate the relationships between sleep duration, sleep problems, perceived stress, changes in these measures over two-years and hippocampal subfield volumes. Results No cross-sectional and follow-up associations between sleep and total hippocampal volume and between stress and total hippocampal volume were found. By contrast, Long sleep (≥9-10 hours / night) was associated with smaller volumes of molecular layer, hippocampal tail, presubiculum and subiculum. The co-occurrence of Short sleep (≤6 hours) and perceived stress was associated with smaller cornu ammonis 1, molecular layer, subiculum and tail. Sleep problems independently and in conjunction with higher stress, and increase in sleep problems over 2 years were associated with smaller volumes of these same subfields. Conclusion Our study highlights the importance of concurrently assessing sub-optimal sleep and stress for phenotyping individuals at risk of hippocampal subfield atrophy.

scholarly journals A novel approach for locating mice brain regions of Cryptococcus neoformans CNS invasion

2016 ◽  
Vol 11 ◽  
pp. S136-S143
Author(s):  
Chunting He ◽  
Qingfen Chen ◽  
Longkun Zhu
Keyword(s):  
Motor Cortex ◽  
Cryptococcus Neoformans ◽  
Primary Motor Cortex ◽  
Thalamic Nucleus ◽  
Molecular Layer ◽  
Brain Regions ◽  
Dorsal Lateral Geniculate Nucleus ◽  
Novel Approach ◽  
Stratum Lucidum ◽  
Lateral Posterior

Aim of this study was to locate the brain regions where Cryptococcus interact with brain cells and invade into brain. After 7 days of intratracheal inocula-tion of GFP-tagged Cryptococcus neoformans strains H99, serial cryosections (10 ?m) from 3 C57 BL/6 J mice brains were imaged with immunofluorescence microscopy. GFP-tagged H99 were found in some brain regions such as primary motor cortex-secondary motor cortex, caudate putamen, stratum lucidum of hippocampus, field CA1 of hippocampus, dorsal lateral geniculate nucleus, lateral posterior thalamic nucleus, laterorostral part, lateral posterior thalamic nucleus, mediorostral part, retrosplenial agranular cortex, lateral area of secondary visual cortex, and lacunosum molecular layer of the hippocampus. The results will be very useful for further exploring the mechanism of C. neoformans infection of brain. 

scholarly journals Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

2019 ◽  
Vol 45 (1) ◽  
Author(s):  
Carlotta Spagnoli ◽  
Susanna Rizzi ◽  
Grazia Gabriella Salerno ◽  
Daniele Frattini ◽  
Carlo Fusco
Keyword(s):  
Autosomal Dominant ◽  
De Novo ◽  
Current Knowledge ◽  
Brain Mri ◽  
Early Adulthood ◽  
Cerebellar Atrophy ◽  
Mild Intellectual Disability ◽  
Long Term Follow Up

Abstract Background Pathogenic variants in KIF1A (kinesin family member 1A) gene have been associated with hereditary spastic paraplegia (HSP) type 30 (SPG30), encopassing autosomal dominant and recessive, pure and complicated forms. Case presentation We report the long-term follow-up of a 19 years-old boy first evaluated at 18 months of age because of toe walking and unstable gait with frequent falls. He developed speech delay, mild intellectual disability, a slowly progressive pyramidal syndrome, microcephaly, bilateral optic subatrophy and a sensory axonal polyneuropathy. Brain MRI showed cerebellar atrophy, stable along serial evaluations (last performed at 18 years of age). Targeted NGS sequencing disclosed the de novo c.914C > T missense, likely pathogenic variant on KIF1A gene. Conclusions We report on a previously unpublished de novo heterozygous likely pathogenic KIF1A variant associated with slowly progressive complicated SPG30 and stable cerebellar atrophy on long-term follow-up, adding to current knowledge on this HSP subtype.

Laryngeal Paralysis in Children

1982 ◽  
Vol 91 (4) ◽  
pp. 417-424 ◽  
Author(s):  
Seymour R. Cohen ◽  
Kenneth A. Geller ◽  
Jeffrey W. Birns ◽  
Jerome W. Thompson
Keyword(s):  
Statistical Analysis ◽  
Vocal Cord ◽  
Conservative Therapy ◽  
Spontaneous Recovery ◽  
Vocal Cord Paralysis ◽  
Laryngeal Paralysis

The charts of 100 children with laryngeal paralysis were reviewed. The patients in this study had either unilateral or bilateral abductor vocal cord paralysis. The literature and pathophysiology are reviewed. A statistical analysis of each group of patients according to etiology is reported. The follow-up, progress and recovery are detailed. The need for observation and conservative therapy is reinforced by the tendency for spontaneous recovery. Suggestions regarding treatment are given.

Cognitive Activity and Onset Age of Incident Alzheimer Disease Dementia

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012388
Author(s):  
Robert S. Wilson ◽  
Tianhao Wang ◽  
Lei Yu ◽  
Francine Grodstein ◽  
David A. Bennett ◽  
...  
Keyword(s):  
Failure Time ◽  
Cognitive Activity ◽  
Older Age ◽  
Activity Score ◽  
Accelerated Failure Time Model ◽  
Accelerated Failure Time ◽  
Onset Age ◽  
Time Model ◽  
Dementia Onset

Objective:To test the hypothesis that higher level of cognitive activity predicts older age of dementia onset in Alzheimer's disease (AD) dementia.Methods:As part of a longitudinal cohort study, 1,903 older persons without dementia at enrollment reported their frequency of participation in cognitively stimulating activities. They had annual clinical evaluations to diagnose dementia and AD, and the deceased underwent neuropathologic examination. In analyses, we assessed the relation of baseline cognitive activity to age at diagnosis of incident AD dementia and to postmortem markers of AD and other dementias.Results:During a mean of 6.8 years of follow-up, 457 individuals were diagnosed with incident AD at a mean age of 88.6 (SD = 6.4; range: 64.1-106.5). In an extended accelerated failure time model, higher level of baseline cognitive activity (mean 3.2, SD = 0.7) was associated with older age of AD dementia onset (estimate = 0.026; 95% confidence interval: 0.013. 0.039). Low cognitive activity (score = 2.1, 10th percentile) was associated with a mean onset age of 88.6 compared to a mean onset age of 93.6 associated with high cognitive activity (score = 4.0, 90th percentile). Results were comparable in subsequent analyses that adjusted for potentially confounding factors. In 695 participants who died and underwent a neuropathologic examination, cognitive activity was unrelated to postmortem markers of AD and other dementias.Conclusion:A cognitively active lifestyle in old age may delay the onset of dementia in AD by as much as 5 years.

PS01.138: EXPERIENCE FROM 102 PATIENTS WITH CONTINUOUS INTRAOPERATIVE VAGUS NERVE STIMULATION DURING MINIMALLY INVASIVE ESOPHAGECTOMY

2018 ◽  
Vol 31 (Supplement_1) ◽  
pp. 89-89
Author(s):  
Ian Yu Hong Wong ◽  
Raymond King Yin Tsang ◽  
Desmond Kwan Kit Chan ◽  
Claudia Lai Yin Wong ◽  
Tsz Ting Law ◽  
...  
Keyword(s):  
Minimally Invasive ◽  
Vocal Cord ◽  
Nerve Stimulation ◽  
Vocal Cord Paralysis ◽  
Minimally Invasive Esophagectomy ◽  
Intraoperative Complications ◽  
Early Recovery ◽  
Invasive Esophagectomy ◽  
Assessment And Treatment

Abstract Background The incidence of recurrent laryngeal nerve (RLN) injury after esophagectomy can be as high as 60–70% especially when lymphadenectomy is performed along bilateral RLN. Vocal cord paralysis is associated with increased pulmonary complication rate, longer hospital stay, and impaired quality-of-life. The authors have modified the Continuous Intraoperative Nerve Monitoring (CIONM) method for minimally invasive esophagectomy. This study reviews our experience in the first 102 patients. Methods From May 2014 to January 2018, patients who underwent thoracoscopic esophagectomy were recruited. CIONM and intermittent nerve stimulation were routinely used during left RLN lymphadenectomy. For right RLN dissection, only intermittent nerve stimulation was used because of much lower chance of nerve injury. Routine direct laryngoscopy was performed on postoperative day one to assess the vocal cord status. Patients with RLN palsy are referred to otorhinolaryngologist for assessment and treatment. Surgical outcome, especially RLN palsy and recovery rates were documented. Results 102 patients were recruited and 73 patients had more than one year follow up. Twenty-two patients had RLN palsy (21.6%); right side in 3, left side in 18, and bilateral in one. Thirty-eight patients (37%) had only unilateral or no RLN dissection performed. This was because of R2 resection negating the benefits of RLN dissection (15.6%), poor pulmonary exposure (9.8%), other technical difficulties (7.8%), preoperative vocal cord palsy (2%), intraoperative complications (1%) and uncertain contralateral nerve integrity (1%). For those 90 patients with successful CIONM, 20 RLN palsy (22.2%), 10 of whom underwent injection thyroplasty within 2–80 days. Thyroplasty was not performed in 12 patients as they had good compensation from the contralateral cord (58.3%), early recovery within 2 weeks (16.7%) tracheostomized status (16.7%) or refusal (8.3%). Thirteen patients (59%) recovered within 2–72 weeks (Median 6 weeks). For the 73 patients with more than 1 year follow up, only 4 has residual vocal cord paralysis, making a genuine cord palsy rate of 5.5%. Conclusion Lymphadenectomy along bilateral RLN is technically demanding. CIONM is a sensitive tool to guide surgeons for safer dissection. Proper patient selection, postoperative assessment and treatment protocol can reduce the morbidity of RLN injury. Majority of the vocal cord paralysis is temporary Disclosure All authors have declared no conflicts of interest.

THUR 154 NMDAR-AB encephalitis: frequency of diagnosis and outcomes

2018 ◽  
Vol 89 (10) ◽  
pp. A18.3-A18
Author(s):  
Lim H ◽  
Whittam D ◽  
Jackson E ◽  
Williams N ◽  
O’Connell D ◽  
...  
Keyword(s):  
Oligoclonal Bands ◽  
Symptom Duration ◽  
Onset Age ◽  
Significant Delay ◽  
Mri Brain ◽  
Aspartate Receptor ◽  
Csf Pleocytosis ◽  
Intrathecal Oligoclonal Bands ◽  
Receptor Antibodies

BackgroundThe association of N-methyl d-aspartate receptor-antibodies (NMDAR-Abs) and encephalitis is now well recognised. MethodsRetrospective review of frequency of diagnosis and outcomes in encephalitis with NMDAR-Abs identified at the Walton Centre between 2012–2017.ResultsNMDAR-Abs were detected in 29/1131 (3%) of sera and/or CSF samples. Of 20 (69%) patients with encephalitis, 50% were identified in the last two years. Median onset age was 34(17–75) years and 60% (12/20) were female. Median symptom duration before diagnosis was 24(2–720) weeks between 2012–2015, improving to 14(1–96) weeks between 2015–2016. Five patients (25%) had an infectious prodrome (one prior HSV-1 encephalitis). Psychiatric/cognitive symptoms, seizures, and movement disorders were present in 80% (16/20), 70% (14/20), and 55% (11/20) of patients respectively. Three patients had ovarian teratomas.Electroencephalograms were abnormal in 65% (15/23) and MRI brain in 37% (7/19) patients. Unmatched intrathecal oligoclonal bands and CSF pleocytosis were present in 31% (5/16) and 60% (15/25) of samples respectively. Immunotherapy was beneficial in 73% (11/15) of patients. Two patients died (sepsis and multi-organ failure) and two improved spontaneously. At a median follow-up of 9 (5–180) months, 69% (11/16) of patients had an mRS ≤2. ConclusionAlthough the recognition of NMDAR-Ab encephalitis has improved, there is still a significant delay to diagnosis. The majority of patients have good outcomes.

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