Status of diagnostic approaches to AQP4-IgG seronegative NMO and NMO/MS overlap syndromes

Maciej Juryńczyk, Brian Weinshenker, Gulsen Akman-Demir, Nasrin Asgari, David Barnes, Mike Boggild, Abhijit Chaudhuri, Marie D'hooghe, Nikos Evangelou, Ruth Geraldes, Zsolt Illes, Anu Jacob, Ho Jin Kim, Ingo Kleiter, Michael Levy, Romain Marignier, Christopher McGuigan, Katy Murray, Ichiro Nakashima, Lekha Pandit & 11 others Friedemann Paul, Sean Pittock, Krzysztof Selmaj, Jérôme de Sèze, Aksel Siva, Radu Tanasescu, Sandra Vukusic, Dean Wingerchuk, Damian Wren, Isabel Leite, Jacqueline Palace

Research output: Contribution to journalLetterResearchpeer-review

Abstract

Distinguishing aquaporin-4 IgG(AQP4-IgG)-negative neuromyelitis optica spectrum disorders (NMOSD) from opticospinal predominant multiple sclerosis (MS) is a clinical challenge with important treatment implications. The objective of the study was to examine whether expert clinicians diagnose and treat NMO/MS overlapping patients in a similar way. 12 AQP4-IgG-negative patients were selected to cover the range of clinical scenarios encountered in an NMO clinic. 27 NMO and MS experts reviewed their clinical vignettes, including relevant imaging and laboratory tests. Diagnoses were categorized into four groups (NMO, MS, indeterminate, other) and management into three groups (MS drugs, immunosuppression, no treatment). The mean proportion of agreement for the diagnosis was low (p o = 0.51) and ranged from 0.25 to 0.73 for individual patients. The majority opinion was divided between NMOSD versus: MS (nine cases), monophasic longitudinally extensive transverse myelitis (LETM) (1), acute disseminated encephalomyelitis (ADEM) (1) and recurrent isolated optic neuritis (RION) (1). Typical NMO features (e.g., LETM) influenced the diagnosis more than features more consistent with MS (e.g., short TM). Agreement on the treatment of patients was higher (p o = 0.64) than that on the diagnosis with immunosuppression being the most common choice not only in patients with the diagnosis of NMO (98 %) but also in those indeterminate between NMO and MS (74 %). The diagnosis in AQP4-IgG-negative NMO/MS overlap syndromes is challenging and diverse. The classification of such patients currently requires new diagnostic categories, which incorporate lesser degrees of diagnostic confidence. Long-term follow-up may identify early features or biomarkers, which can more accurately distinguish the underlying disorder.

Original languageEnglish
JournalJournal of Neurology
Volume263
Issue number1
Pages (from-to)140-149
ISSN0340-5354
DOIs
Publication statusPublished - 2016

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Neuromyelitis Optica
Optic Neuritis
Pharmaceutical Preparations

Keywords

  • Journal Article
  • Research Support, Non-U.S. Gov't

Cite this

Juryńczyk, Maciej ; Weinshenker, Brian ; Akman-Demir, Gulsen ; Asgari, Nasrin ; Barnes, David ; Boggild, Mike ; Chaudhuri, Abhijit ; D'hooghe, Marie ; Evangelou, Nikos ; Geraldes, Ruth ; Illes, Zsolt ; Jacob, Anu ; Kim, Ho Jin ; Kleiter, Ingo ; Levy, Michael ; Marignier, Romain ; McGuigan, Christopher ; Murray, Katy ; Nakashima, Ichiro ; Pandit, Lekha ; Paul, Friedemann ; Pittock, Sean ; Selmaj, Krzysztof ; de Sèze, Jérôme ; Siva, Aksel ; Tanasescu, Radu ; Vukusic, Sandra ; Wingerchuk, Dean ; Wren, Damian ; Leite, Isabel ; Palace, Jacqueline. / Status of diagnostic approaches to AQP4-IgG seronegative NMO and NMO/MS overlap syndromes. In: Journal of Neurology. 2016 ; Vol. 263, No. 1. pp. 140-149.
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title = "Status of diagnostic approaches to AQP4-IgG seronegative NMO and NMO/MS overlap syndromes",
abstract = "Distinguishing aquaporin-4 IgG(AQP4-IgG)-negative neuromyelitis optica spectrum disorders (NMOSD) from opticospinal predominant multiple sclerosis (MS) is a clinical challenge with important treatment implications. The objective of the study was to examine whether expert clinicians diagnose and treat NMO/MS overlapping patients in a similar way. 12 AQP4-IgG-negative patients were selected to cover the range of clinical scenarios encountered in an NMO clinic. 27 NMO and MS experts reviewed their clinical vignettes, including relevant imaging and laboratory tests. Diagnoses were categorized into four groups (NMO, MS, indeterminate, other) and management into three groups (MS drugs, immunosuppression, no treatment). The mean proportion of agreement for the diagnosis was low (p o = 0.51) and ranged from 0.25 to 0.73 for individual patients. The majority opinion was divided between NMOSD versus: MS (nine cases), monophasic longitudinally extensive transverse myelitis (LETM) (1), acute disseminated encephalomyelitis (ADEM) (1) and recurrent isolated optic neuritis (RION) (1). Typical NMO features (e.g., LETM) influenced the diagnosis more than features more consistent with MS (e.g., short TM). Agreement on the treatment of patients was higher (p o = 0.64) than that on the diagnosis with immunosuppression being the most common choice not only in patients with the diagnosis of NMO (98 {\%}) but also in those indeterminate between NMO and MS (74 {\%}). The diagnosis in AQP4-IgG-negative NMO/MS overlap syndromes is challenging and diverse. The classification of such patients currently requires new diagnostic categories, which incorporate lesser degrees of diagnostic confidence. Long-term follow-up may identify early features or biomarkers, which can more accurately distinguish the underlying disorder.",
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author = "Maciej Juryńczyk and Brian Weinshenker and Gulsen Akman-Demir and Nasrin Asgari and David Barnes and Mike Boggild and Abhijit Chaudhuri and Marie D'hooghe and Nikos Evangelou and Ruth Geraldes and Zsolt Illes and Anu Jacob and Kim, {Ho Jin} and Ingo Kleiter and Michael Levy and Romain Marignier and Christopher McGuigan and Katy Murray and Ichiro Nakashima and Lekha Pandit and Friedemann Paul and Sean Pittock and Krzysztof Selmaj and {de S{\`e}ze}, J{\'e}r{\^o}me and Aksel Siva and Radu Tanasescu and Sandra Vukusic and Dean Wingerchuk and Damian Wren and Isabel Leite and Jacqueline Palace",
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pages = "140--149",
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Juryńczyk, M, Weinshenker, B, Akman-Demir, G, Asgari, N, Barnes, D, Boggild, M, Chaudhuri, A, D'hooghe, M, Evangelou, N, Geraldes, R, Illes, Z, Jacob, A, Kim, HJ, Kleiter, I, Levy, M, Marignier, R, McGuigan, C, Murray, K, Nakashima, I, Pandit, L, Paul, F, Pittock, S, Selmaj, K, de Sèze, J, Siva, A, Tanasescu, R, Vukusic, S, Wingerchuk, D, Wren, D, Leite, I & Palace, J 2016, 'Status of diagnostic approaches to AQP4-IgG seronegative NMO and NMO/MS overlap syndromes', Journal of Neurology, vol. 263, no. 1, pp. 140-149. https://doi.org/10.1007/s00415-015-7952-8

Status of diagnostic approaches to AQP4-IgG seronegative NMO and NMO/MS overlap syndromes. / Juryńczyk, Maciej; Weinshenker, Brian; Akman-Demir, Gulsen; Asgari, Nasrin; Barnes, David; Boggild, Mike; Chaudhuri, Abhijit; D'hooghe, Marie; Evangelou, Nikos; Geraldes, Ruth; Illes, Zsolt; Jacob, Anu; Kim, Ho Jin; Kleiter, Ingo; Levy, Michael; Marignier, Romain; McGuigan, Christopher; Murray, Katy; Nakashima, Ichiro; Pandit, Lekha; Paul, Friedemann; Pittock, Sean; Selmaj, Krzysztof; de Sèze, Jérôme; Siva, Aksel; Tanasescu, Radu; Vukusic, Sandra; Wingerchuk, Dean; Wren, Damian; Leite, Isabel; Palace, Jacqueline.

In: Journal of Neurology, Vol. 263, No. 1, 2016, p. 140-149.

Research output: Contribution to journalLetterResearchpeer-review

TY - JOUR

T1 - Status of diagnostic approaches to AQP4-IgG seronegative NMO and NMO/MS overlap syndromes

AU - Juryńczyk, Maciej

AU - Weinshenker, Brian

AU - Akman-Demir, Gulsen

AU - Asgari, Nasrin

AU - Barnes, David

AU - Boggild, Mike

AU - Chaudhuri, Abhijit

AU - D'hooghe, Marie

AU - Evangelou, Nikos

AU - Geraldes, Ruth

AU - Illes, Zsolt

AU - Jacob, Anu

AU - Kim, Ho Jin

AU - Kleiter, Ingo

AU - Levy, Michael

AU - Marignier, Romain

AU - McGuigan, Christopher

AU - Murray, Katy

AU - Nakashima, Ichiro

AU - Pandit, Lekha

AU - Paul, Friedemann

AU - Pittock, Sean

AU - Selmaj, Krzysztof

AU - de Sèze, Jérôme

AU - Siva, Aksel

AU - Tanasescu, Radu

AU - Vukusic, Sandra

AU - Wingerchuk, Dean

AU - Wren, Damian

AU - Leite, Isabel

AU - Palace, Jacqueline

PY - 2016

Y1 - 2016

N2 - Distinguishing aquaporin-4 IgG(AQP4-IgG)-negative neuromyelitis optica spectrum disorders (NMOSD) from opticospinal predominant multiple sclerosis (MS) is a clinical challenge with important treatment implications. The objective of the study was to examine whether expert clinicians diagnose and treat NMO/MS overlapping patients in a similar way. 12 AQP4-IgG-negative patients were selected to cover the range of clinical scenarios encountered in an NMO clinic. 27 NMO and MS experts reviewed their clinical vignettes, including relevant imaging and laboratory tests. Diagnoses were categorized into four groups (NMO, MS, indeterminate, other) and management into three groups (MS drugs, immunosuppression, no treatment). The mean proportion of agreement for the diagnosis was low (p o = 0.51) and ranged from 0.25 to 0.73 for individual patients. The majority opinion was divided between NMOSD versus: MS (nine cases), monophasic longitudinally extensive transverse myelitis (LETM) (1), acute disseminated encephalomyelitis (ADEM) (1) and recurrent isolated optic neuritis (RION) (1). Typical NMO features (e.g., LETM) influenced the diagnosis more than features more consistent with MS (e.g., short TM). Agreement on the treatment of patients was higher (p o = 0.64) than that on the diagnosis with immunosuppression being the most common choice not only in patients with the diagnosis of NMO (98 %) but also in those indeterminate between NMO and MS (74 %). The diagnosis in AQP4-IgG-negative NMO/MS overlap syndromes is challenging and diverse. The classification of such patients currently requires new diagnostic categories, which incorporate lesser degrees of diagnostic confidence. Long-term follow-up may identify early features or biomarkers, which can more accurately distinguish the underlying disorder.

AB - Distinguishing aquaporin-4 IgG(AQP4-IgG)-negative neuromyelitis optica spectrum disorders (NMOSD) from opticospinal predominant multiple sclerosis (MS) is a clinical challenge with important treatment implications. The objective of the study was to examine whether expert clinicians diagnose and treat NMO/MS overlapping patients in a similar way. 12 AQP4-IgG-negative patients were selected to cover the range of clinical scenarios encountered in an NMO clinic. 27 NMO and MS experts reviewed their clinical vignettes, including relevant imaging and laboratory tests. Diagnoses were categorized into four groups (NMO, MS, indeterminate, other) and management into three groups (MS drugs, immunosuppression, no treatment). The mean proportion of agreement for the diagnosis was low (p o = 0.51) and ranged from 0.25 to 0.73 for individual patients. The majority opinion was divided between NMOSD versus: MS (nine cases), monophasic longitudinally extensive transverse myelitis (LETM) (1), acute disseminated encephalomyelitis (ADEM) (1) and recurrent isolated optic neuritis (RION) (1). Typical NMO features (e.g., LETM) influenced the diagnosis more than features more consistent with MS (e.g., short TM). Agreement on the treatment of patients was higher (p o = 0.64) than that on the diagnosis with immunosuppression being the most common choice not only in patients with the diagnosis of NMO (98 %) but also in those indeterminate between NMO and MS (74 %). The diagnosis in AQP4-IgG-negative NMO/MS overlap syndromes is challenging and diverse. The classification of such patients currently requires new diagnostic categories, which incorporate lesser degrees of diagnostic confidence. Long-term follow-up may identify early features or biomarkers, which can more accurately distinguish the underlying disorder.

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1007/s00415-015-7952-8

DO - 10.1007/s00415-015-7952-8

M3 - Letter

VL - 263

SP - 140

EP - 149

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 1

ER -