Maciej Juryńczyk

Nencki Institute of Experimental Biology | NENCKI · Laboratory of Brain Imaging

Multiple sclerosis and aquaporin-4 antibody neuromyelitis optica spectrum disorders are distinct autoimmune CNS disorders with overlapping clinical features but differing pathology. Multiple sclerosis is primarily a demyelinating disease with the presence of widespread axonal damage, while neuromyelitis optica spectrum disorders is characterized by...

Importance Multiple sclerosis (MS) misdiagnosis remains an important issue in clinical practice. Objective To quantify the performance of cortical lesions (CLs) and central vein sign (CVS) in distinguishing MS from other conditions showing brain lesions on magnetic resonance imaging (MRI). Design, Setting, and Participants This was a retrospectiv...

Most patients with neuromyelitis optica spectrum disorders (NMOSD) test positive for aquaporin-4 antibody (AQP4-IgG) or myelin oligodendrocyte glycoprotein antibodies (MOG-IgG). Those who are negative are termed double-negative (DN) NMOSD and may constitute a diagnostic and therapeutic challenge. DN NMOSD is a syndrome rather than a single disease,...

Background Due to lack of biomarkers, antibody-negative patients with features of neuromyelitis optica spectrum disorders (NMOSD) are among the most challenging to diagnose and treat. Using unsupervised clustering, we recently identified ‘MS-like’, ‘spinal MS-like’, ‘classic NMOSD-like’ and ‘NMOSD-like with brain involvement’ subgroups in this coho...

Multiple sclerosis (MS) is often described as an inflammatory disease of the central nervous system (CNS). However, the aberrant immune response may not be fully compartmentalised within the CNS. Here we present two strands of evidence for an active systemic inflammatory process in MS. First, we describe a case series of six individuals with relaps...

Background The “1/3” brain magnetic resonance imaging (MRI) criteria including 1) a lesion adjacent to the lateral ventricle and in the inferior temporal lobe, or 2) a juxtacortical lesion, or 3) a Dawson finger-type lesion were shown to distinguish multiple sclerosis (MS) from antibody-mediated conditions. In this large multicentre study, we aimed...

Background Separating antibody-negative neuromyelitis optica spectrum disorders (NMOSD) from multiple sclerosis (MS) in borderline cases is extremely challenging due to lack of biomarkers. Elucidating different pathologies within the likely heterogenous antibody-negative NMOSD/MS overlap syndrome is, therefore, a major unmet need which would help a...

Multiple sclerosis (MS) is a heterogenous condition with differences between patients regarding disease presentation, imaging features, disease activity, prognosis and treatment responses. Following the discovery of new biomarkers, the concept of MS has evolved, with syndromes previously considered to be its variants now recognised as separate enti...

Background: Identifying magnetic resonance imaging (MRI) markers in myelin-oligodendrocytes-glycoprotein antibody-associated disease (MOGAD), neuromyelitis optica spectrum disorder-aquaporin-4 positive (NMOSD-AQP4) and multiple sclerosis (MS) is essential for establishing objective outcome measures. Objectives: To quantify imaging patterns of ce...

Neuromyelitis optica associated with aquaporin-4-antibodies (NMOSD-AQP4) and myelin oligodentrocyte-glycoprotein antibody-associated disorder (MOGAD) have been recently recognised as different from multiple sclerosis. Although conventional MRI may help distinguish multiple sclerosis from antibody-mediated diseases, the use of quantitative and non-c...

Background Differentiating multiple sclerosis (MS) from vascular risk factor (VRF)-small vessel disease (SVD) can be challenging. Objective and Methods In order to determine whether or not pontine lesion location is a useful discriminator of MS and VRF-SVD, we classified pontine lesions on brain magnetic resonance imaging (MRI) as central or perip...

Objective To determine if vascular risk factor (VRF), that is, smoking, arterial hypertension (HT), dyslipidaemia and diabetes, have an effect on multiple sclerosis (MS) pathology as measured by MS typical brain lesions, we have compared brain MRIs from patients with MS with and without VRF age-matched and sex-matched. Methods Brain MRIs from five...

Objective: To determine whether unsupervised principal component analysis (PCA) of comprehensive clinico-radiologic data can identify phenotypic subgroups within antibody-negative patients with overlapping features of multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSDs), and to validate the phenotypic classifications using...

The field of central nervous system (CNS) inflammatory diseases has recently broadened to include a new condition associated with pathogenic serum antibodies against myelin oligodendrocyte glycoprotein (MOG). This is distinct from multiple sclerosis (MS) and aquaporin-4 (AQP4) antibody neuromyelitis optica spectrum disorders (NMOSD). MOG antibody-a...

Background MOG-antibody disease has been recently recognized as a demyelinating condition distinct from Multiple Sclerosis. Methods: A single-site study of 106 MOG-antibody positive patients (including a 63-patient incident cohort) describing the clinical phenotype and outcome. Results ON was the most common onset presentation (51%) and was bilate...

Importance Myelin oligodendrocyte glycoprotein antibodies (MOG-Abs) are consistently identified in a range of demyelinating disorders in adults and children. Current therapeutic strategies are largely center specific, and no treatments have been formally evaluated. Objective To examine the clinical phenotypes, treatment responses, and outcomes of...

The overlapping clinical features of relapsing remitting multiple sclerosis (RRMS), aquaporin-4 (AQP4)-antibody (Ab) neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein (MOG)-Ab disease mean that detection of disease specific serum antibodies is the gold standard in diagnostics. However, antibody levels are not p...

Background Myelin Oligodendrocyte Glycoprotein antibody (MOG-Ab) disease has been recently proposed as an entity distinct from multiple sclerosis and Aquaporin-4-Ab neuromyelitis optica, but the clinical data has been derived from small and highly selected cohorts. Objective The Oxford Autoimmune Neurology group are the only laboratory offering a...

See de Seze (doi:10.1093/brain/awx292) for a scientific commentary on this article. A condition associated with an autoantibody against MOG has been recently recognized as a new inflammatory disease of the central nervous system, but the disease course and disability outcomes are largely unknown. In this study we investigated clinical characteris...

Brain imaging characteristics of MOG antibody disease are largely unknown and it is unclear whether they differ from those of multiple sclerosis and AQP4 antibody disease. The aim of this study was to identify brain imaging discriminators between those three inflammatory central nervous system diseases in adults and children to support diagnostic d...

Importance Chronic, intractable neuropathic pain is a common and debilitating consequence of neuromyelitis optica spectrum disorder (NMOSD) myelitis, with no satisfactory treatment; few studies have yet to explore its aetiology. Objective To establish if myelitis-associated chronic pain in NMOSD is related to the craniocaudal location of spinal co...

Importance Neuromyelitis optica spectrum disorders (NMOSD) can present with very similar clinical features to multiple sclerosis (MS), but the international diagnostic imaging criteria for MS are not necessarily helpful in distinguishing these two diseases. Objective This multicentre study tested previously reported criteria of ‘(1) at least 1 les...

Severe, recurrent or bilateral optic neuritis (ON) often falls within the neuromyelitis optica spectrum disorders (NMOSD), but the diagnosis can be particularly challenging and has important treatment implications. We report the features, course and outcomes of patients presenting with atypical ON when isolated at onset. We retrospectively analyzed...

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...

Supplementary Fig. 1. Kaplan–Meier analysis showing cumulative probability of Transverse Myelitis (TM) (A) and Longitudinally Extensive Transverse Myelitis (LETM) (B) relapses over time following first optic neuritis attack (ON). No differences were observed in the probability of TM relapses over time between the two groups (A), but there was an in...

Distinguishing aquaporin-4-antibody(AQP4-Ab)-negative neuromyelitis optica spectrum disorders (NMOSD) from optico-spinal predominant MS is a clinical challenge with important treatment implications. 12 AQP4-Ab-negative patients presenting to an NMO clinic were selected for having overlapping features of NMO and MS. 27 NMO and MS experts reviewed th...

Notch receptors (Notch1-4) are involved in the differentiation of CD4 T cells and the development of autoimmunity. Mechanisms regulating Notch signaling in CD4 T cells are not fully elucidated. In this study we investigated potential crosstalk between Notch pathway molecules and heat shock protein 70 (Hsp70), the major intracellular chaperone invol...

To optimize sensitivity and disease specificity of a myelin oligodendrocyte glycoprotein (MOG) antibody assay. Consecutive sera (n = 1,109) sent for aquaporin-4 (AQP4) antibody testing were screened for MOG antibodies (Abs) by cell-based assays using either full-length human MOG (FL-MOG) or the short-length form (SL-MOG). The Abs were initially det...

Neuromyelitis optica (NMO) has long been considered as a variant of multiple sclerosis (MS) rather than a distinct disease. This concept changed with the discovery of serum antibodies (Ab) against aquaporin-4 (AQP4), which unequivocally differentiate NMO from MS. Patients who test positive for AQP4-Abs and present with optic neuritis (ON) and trans...

Antigen-specific therapy targeting selective inhibition of autoreactive responses holds promise for controlling multiple sclerosis (MS) without disturbing homeostasis of the whole immune system. Key autoantigens in MS include myelin proteins, such as myelin basic protein (MBP), proteolipid protein (PLP), and myelin oligodendrocyte glycoprotein (MOG...

The syndrome of acute bilateral basal ganglia lesions is a rarely described complication of uremia occurring typically in the setting of concurrent long-standing diabetes mellitus. Reversible symmetrical lesions located in basal ganglia found on brain magnetic resonance imaging are hallmarks of this syndrome. Clinical presentation includes parkinso...

Notch is a family of four transmembrane receptors (Notch1-4) that orchestrate differentiation of various cell types, tissues and organs. Recent studies have revealed that Notch, among other processes, regulates immune responses of peripheral T cells, controls oligodendrocyte maturation and myelination of axons and under inflammatory conditions affe...

Among its varied functions, Notch signaling is involved in peripheral T cells responses. The activation and polarization of CD4(+) T cells toward a Th1 lineage are essential steps in the pathogenesis of multiple sclerosis and its animal model, experimental autoimmune encephalomyelitis. Inhibition of all four Notch receptors with a gamma-secretase i...

In multiple sclerosis (MS), myelin destroyed by the immune attack is not effectively repaired by oligodendrocytes (OLs) and MS foci eventually undergo glial scarring. Although oligodendrocyte precursor cells (OPCs) are normally recruited to the lesion areas, they fail to mature and remyelinate the damaged fibers. Activation of the Notch pathway has...

Oligodendrocytes (OLs) fail to regenerate myelin destroyed by the immune attack in multiple sclerosis (MS) and lesion areas are eventually largely occupied by astrocytic scar tissue. Loss of OLs in MS does not account for the limited myelin repair as lesions contain a considerable number of OL precursor cells (OPC). Activation of the Notch pathway...