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1,207 results on '"Lennon, Vanda A."'

252. A Systematic Clinico-Serologic Study of Recurrent Longitudinally Extensive Transverse Myelitis (rTM) and Comparison with NMO (P02.141)

Author

Jiao, Yujuan, primary, Fryer, James, additional, Lennon, Vanda, additional, McKeon, Andrew, additional, Smith, Carin, additional, Jenkins, Sarah, additional, Iorio, Raffaele, additional, Costanzi, Chiara, additional, Quek, Amy, additional, Weinshenker, Brian, additional, Wingerchuk, Dean, additional, Shuster, Elizabeth, additional, Lucchinetti, Claudia, additional, and Pittock, Sean, additional

Published
2013
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255. Signal recognition particle immunoglobulin g detected incidentally associates with autoimmune myopathy.

Author

Apiwattanakul, Metha, Milone, Margherita, Pittock, Sean J., Kryzer, Thomas J., Fryer, James P., O'toole, Orna, Mckeon, Andrew, and Lennon, Vanda A.

Abstract

Introduction: Paraneoplastic autoantibody screening of 150,000 patient sera by tissue-based immunofluorescence incidentally revealed 170 with unsuspected signal recognition particle (SRP) immunoglobulin G (IgG), which is a recognized biomarker of autoimmune myopathy. Of the 77 patients with available information, 54 had myopathy. We describe the clinical/laboratory associations.Methods: Distinctive cytoplasm-binding IgG (mouse tissue substrate) prompted western blot, enzyme-linked immunoassay, and immunoprecipitation analyses. Available histories were reviewed.Results: The immunostaining pattern resembled rough endoplasmic reticulum, and mimicked Purkinje-cell cytoplasmic antibody type 1 IgG/anti-Yo. Immunoblotting revealed ribonucleoprotein reactivity. Recombinant antigens confirmed the following: SRP54 IgG specificity alone (17); SRP72 IgG specificity alone (3); both (32); or neither (2). Coexisting neural autoantibodies were identified in 28% (low titer). Electromyography revealed myopathy with fibrillation potentials; 78% of biopsies had active necrotizing myopathy with minimal inflammation, and 17% had inflammatory myopathy. Immunotherapy responsiveness was typically slow and incomplete, and relapses were frequent on withdrawal. Histologically confirmed cancers (17%) were primarily breast and hematologic, with some others.Conclusions: Autoimmune necrotizing SRP myopathy, both idiopathic and paraneoplastic, is underdiagnosed in neurological practice. Serological screening aids early diagnosis. Cancer surveillance and appropriate immunosuppressant therapy may improve outcome. Muscle Nerve 53: 925-932, 2016. [ABSTRACT FROM AUTHOR]

Published
2016
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256. Epidemiology of aquaporin-4 autoimmunity and neuromyelitis optica spectrum.

Author

Flanagan, Eoin P., Cabre, Philippe, Weinshenker, Brian G., Sauver, Jennifer St, Jacobson, Debra J., Majed, Masoud, Lennon, Vanda A., Lucchinetti, Claudia F., McKeon, Andrew, Matiello, Marcelo, Kale, Nilifur, Wingerchuk, Dean M., Mandrekar, Jay, Sagen, Jessica A., Fryer, James P., Robinson, Angala Borders, and Pittock, Sean J.

Abstract

Objective: Neuromyelitis optica (NMO) and its spectrum disorders (NMOSD) are inflammatory demyelinating diseases (IDDs) with a specific biomarker, aquaporin-4-immunoglobulin G (AQP4-IgG). Prior NMO/NMOSD epidemiological studies have been limited by lack of AQP4-IgG seroprevalence assessment, absence of population-based USA studies, and under-representation of blacks. To overcome these limitations, we sought to compare NMO/NMOSD seroepidemiology across 2 ethnically divergent populations.Methods: We performed a population-based comparative study of the incidence (2003-2011) and prevalence (on December 31, 2011) of NMO/NMOSD and AQP4-IgG seroincidence and seroprevalence (sera collected in 80-84% of IDD cases) among patients with IDD diagnosis in Olmsted County, Minnesota (82% white [Caucasian]) and Martinique (90% black [Afro-Caribbean]). AQP4-IgG was measured by M1 isoform fluorescence-activated cell-sorting assays.Results: The age- and sex-adjusted incidence (7.3 vs 0.7/1,000,000 person-years [p < 0.01]) and prevalence (10 vs 3.9/100,000 [p = 0.01]) in Martinique exceeded that in Olmsted County. The AQP4-IgG age- and sex-adjusted seroincidence (6.5 vs 0.7/1,000,000 person-years [p < 0.01]) and seroprevalence (7.9 vs 3.3/100,000 [p = 0.04]) were also higher in Martinique than Olmsted County. The ethnicity-specific prevalence was similar in Martinique and Olmsted County: 11.5 and 13/100,000 in blacks, and 6.1 and 4.0/100,000 in whites, respectively. NMO/NMOSD represented a higher proportion of IDD cases in Martinique than Olmsted County (16% vs 1.4%; p < 0.01). The onset age (median = 35-37 years) and female:male distribution (5-9:1) were similar across both populations; 60% of prevalent cases were either blind in 1 eye, dependent on a gait aid, or both.Interpretation: This study reports the highest prevalence of NMO/NMOSD in any population (10/100,000 in Martinique), estimates it affects 16,000 to 17,000 in the USA (higher than previous predictions), and demonstrates it disproportionately affects blacks. Ann Neurol 2016;79:775-783. [ABSTRACT FROM AUTHOR]

Published
2016
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257. A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers.

Author

Rinz, Caitlin J., Lennon, Vanda A., James, Fiona, Thoreson, James B., Tsai, Kate L., Starr-Moss, Alison N., Humphries, H. Dale, Guo, Ling T., Palmer, Anthony C., Clark, Leigh Anne, and Shelton, G. Diane

Subjects
*CONGENITAL myasthenic syndromes, *JACK Russell terrier, *CONGENITAL disorders, *FRAMESHIFT mutation, *PRESYNAPTIC receptors, *NICOTINIC acetylcholine receptors, *GENETIC mutation
Abstract

Congenital myasthenic syndromes (CMSs) are a group of rare genetic disorders of the neuromuscular junction resulting in structural or functional causes of fatigable weakness that usually begins early in life. Mutations in pre-synaptic, synaptic and post-synaptic proteins have been demonstrated in human cases, with more than half involving aberrations in nicotinic acetylcholine receptor (AChR) subunits. CMS was first recognized in dogs in 1974 as an autosomal recessive trait in Jack Russell Terriers (JRTs). A deficiency of junctional AChRs was demonstrated. Here we characterize a CMS in 2 contemporary cases of JRT littermates with classic clinical and electromyographic findings, and immunochemical confirmation of an approximately 90% reduction in AChR protein content. Loci encoding the 5 AChR subunits were evaluated using microsatellite markers, and CHRNB1 and CHRNE were identified as candidate genes. Sequences of the splice sites and exons of both genes revealed a single base insertion in exon 7 of CHRNE that predicts a frameshift mutation and a premature stop codon. We further demonstrated this pathogenic mutation in CHRNE in archival tissues from unrelated JRTs studied 34 years ago. [ABSTRACT FROM AUTHOR]

Published
2015
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258. Amphiphysin autoimmunity : paraneoplastic accompaniments

Author

Pittock, Sean J, Lucchinetti, Claudia F, Parisi, Jospeh E, Benarroch, Eduardo E, Mokri, Bahram, Stephan, Christina L, Kim, Kwang-Kuk, Kilimann, Manfred W, Lennon, Vanda A, Pittock, Sean J, Lucchinetti, Claudia F, Parisi, Jospeh E, Benarroch, Eduardo E, Mokri, Bahram, Stephan, Christina L, Kim, Kwang-Kuk, Kilimann, Manfred W, and Lennon, Vanda A

Abstract

Amphiphysin-IgG was identified in 71 patients among 120,000 evaluated serologically for paraneoplastic autoantibodies. Clinical information was available for 63 patients. Cancer was detected in 50 (mostly limited), proven histologically in 46, and was imaged intrathoracically in 4 patients (lung, small-cell [27] and non-small cell [1]), breast [16] and melanoma [2]). Neurological accompaniments included (decreasing frequency): neuropathy, encephalopathy, myelopathy, stiff-man phenomena, and cerebellar syndrome. In a case examined neuropathologically, parenchymal T-lymphocyte infiltration (predominantly CD8(+)) was prominent in lower brainstem, spinal cord, and dorsal root ganglion. Coexisting paraneoplastic autoantibodies, identified in 74% of patients, predicted a common neoplasm and indicated other neuronal autoantigen targets that plausibly explained several neurological manifestations; for example, P/Q-type Ca(2+)-channel antibody with Lambert-Eaton syndrome (n = 5), anti-neuronal nuclear antibody type 1 with sensory neuronopathy (n = 7), K(+)-channel antibody with limbic encephalitis (n = 1) or neuromyotonia (n = 1), and collapsin response-mediator protein-5-IgG with optic neuritis (n = 3). Patients with isolated amphiphysin-IgG (n = 19) were more likely to be women (with breast cancer, p < 0.05) and to have myelopathy or stiff-man phenomena (p < 0.01). Overall, a minority of women (39%) and men (12%) had stiff-man phenomena. Only 10% of women (some with lung carcinoma) and 4% of men fulfilled diagnostic criteria for stiff-man syndrome.

Published
2005
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259. Effects of Age and Sex on Aquaporin-4 Autoimmunity

Author

Quek, Amy M. L., primary, McKeon, Andrew, additional, Lennon, Vanda A., additional, Mandrekar, Jayawant N., additional, Iorio, Raffaele, additional, Jiao, Yujuan, additional, Costanzi, Chiara, additional, Weinshenker, Brian G., additional, Wingerchuk, Dean M., additional, Lucchinetti, Claudia F., additional, Shuster, Elizabeth A., additional, and Pittock, Sean J., additional

Published
2012
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274. Intractable vomiting as the initial presentation of neuromyelitis optica

Author

Apiwattanakul, Metha, primary, Popescu, Bogdan F., additional, Matiello, Marcelo, additional, Weinshenker, Brian G., additional, Lucchinetti, Claudia F., additional, Lennon, Vanda A., additional, McKeon, Andrew, additional, Carpenter, Adam F., additional, Miller, Gary M., additional, and Pittock, Sean J., additional

Published
2010
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275. Autoimmune Dementia: Clinical Course and Predictors of Immunotherapy Response

Author

Flanagan, Eoin P., primary, McKeon, Andrew, additional, Lennon, Vanda A., additional, Boeve, Bradley F., additional, Trenerry, Max R., additional, Tan, K. Meng, additional, Drubach, Daniel A., additional, Josephs, Keith A., additional, Britton, Jeffrey W., additional, Mandrekar, Jayawant N., additional, Lowe, Val, additional, Parisi, Joseph E., additional, and Pittock, Sean J., additional

Published
2010
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276. Autoimmune Dementia:Clinical Course and Predictors of Immunotherapy Response.

Author

Mckeon, Andrew, primary, Flnanagan, Eoin p., additional, Lennon, Vanda a., additional, Boeve, Bradley f., additional, Trenerry, Max r., additional, Tan, Meng, additional, Drubach, Daniel a., additional, Josephs, Keith a., additional, Britton, Jeffrey w., additional, Mandrekar, Jayawant n., additional, Lowe, Val, additional, Parisi, Joseph e., additional, and Pittock, Sean j., additional

Published
2010
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277. Paraneoplastic Jaw Dystonia and Laryngospasm With Antineuronal Nuclear Autoantibody Type 2 (Anti-Ri)

Author

Pittock, Sean J., primary, Parisi, Joseph E., additional, McKeon, Andrew, additional, Roemer, Shanu F., additional, Lucchinetti, Claudia F., additional, Tan, K. Meng, additional, Keegan, B. Mark, additional, Hunter, Samuel F., additional, Duncan, Paul R., additional, Baehring, Joachim M., additional, Matsumoto, Joseph Y., additional, and Lennon, Vanda A., additional

Published
2010
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282. An outbreak of neurological autoimmunity with polyradiculoneuropathy in workers exposed to aerosolised porcine neural tissue: a descriptive study

Author

Lachance, Daniel H, primary, Lennon, Vanda A, additional, Pittock, Sean J, additional, Tracy, Jennifer A, additional, Krecke, Karl N, additional, Amrami, Kimberly K, additional, Poeschla, Eric M, additional, Orenstein, Robert, additional, Scheithauer, Bernd W, additional, Sejvar, James J, additional, Holzbauer, Stacy, additional, DeVries, Aaron S, additional, and Dyck, P James B, additional

Published
2010
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284. Diagnosis of Neuromyelitis Spectrum Disorders

Author

McKeon, Andrew, primary, Fryer, James P., additional, Apiwattanakul, Metha, additional, Lennon, Vanda A., additional, Hinson, Shannon R., additional, Kryzer, Thomas J., additional, Lucchinetti, Claudia F., additional, Weinshenker, Brian G., additional, Wingerchuk, Dean M., additional, Shuster, Elizabeth A., additional, and Pittock, Sean J., additional

Published
2009
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294. Coexistence of myasthenia gravis and serological markers of neurological autoimmunity in neuromyelitis optica

Author

McKeon, Andrew, primary, Lennon, Vanda A., additional, Jacob, Anu, additional, Matiello, Marcelo, additional, Lucchinetti, Claudia F., additional, Kale, Nilufer, additional, Chan, Koon H., additional, Weinshenker, Brian G., additional, Apiwattinakul, Metha, additional, Wingerchuk, Dean M., additional, and Pittock, Sean J., additional

Published
2009
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