AI Article Synopsis
- The study investigates variations in the presentation of familial neuromyelitis optica (NMO) spectrum disorder among family members, focusing on a mother-daughter pair.
- The analysis included clinical and neuroimaging data, genetic testing on the AQP4 gene, and HLA loci from the family and six other families with NMO.
- Results showed differences in disease onset and presentation between family members, highlighting clinical heterogeneity and suggesting that specific HLA alleles may play a role in the disorder.
Article Abstract
Background: The aim of the current study was to examine intra-family phenotype variations in familial neuromyelitis optica (NMO) spectrum disorder.
Methods: The clinical presentation and neuroimaging features of two family members (mother and daughter) from a NMO spectrum disorder family (index family) were analyzed. Multiplex polymerase chain reaction was performed based on targeted re-sequencing on the AQP4 gene and the human leukocyte antigen (HLA) loci. The clinical and neuroimaging features of the members of six other previously reported NMO spectrum disorder families were also included for analysis.
Results: In the core family, the mother was aged 39 at disease onset and the initial presentation was spinal cord involvement, whereas the daughter was 22 years old at disease onset and the initial presentation was brainstem involvement. No coding pathogenic variants or single nucleotide polymorphisms of the AQP4 gene were identified in the mother, daughter or father. As for HLA genotyping, the HLA-DRB1*03 and HLA-DPB1*04 alleles were shared by the mother and daughter. The HLA-DPB1*05 was present in the affected daughter and was inherited from the unaffected father. As for the other six reported families with familial NMO spectrum disorder, four mother-daughter pairs had a different age at disease onset and/or a different initial presentation. The other two affected family groups were sister-sister pairs; they had a similar age of onset and similar initial presentations.
Conclusion: The present study offers a preliminary view of the clinical and neuroimaging features of patients with familial NMO spectrum disorder. Clinical heterogeneities were found among the family members, especially the mother and daughter pairs. The presence of risk allele HLA-DR*03:01 may be an important genetic finding for familial NMO spectrum disorder patients. To the best of our knowledge, this clinical heterogeneity has not been previously examined or reported in the literature. For better delineation of the intra-familial phenotype variations in familial NMO spectrum disorder, further large-scale studies are needed.
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| http://dx.doi.org/10.1016/j.msard.2019.02.002 | DOI Listing |
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From the Nuffield Department of Clinical Neurosciences (B.C., A.F., R.G., M.I.S.L., J.P.), Oxford University Hospitals, United Kingdom; Department of Neurology (B.C.), Tongji Hospital of Tongji Medical College, Huazhong University of Science of Technology, Wuhan, China; University Hospitals Sussex National Health Service Foundation Trust (S.A.C.), Brighton; Centre for Preventive Neurology (R.D.), Wolfson Institute of Population Health, Queen Mary University of London; Queen Square Multiple Sclerosis Centre (Y.H.), UCL Institute of Neurology, Faculty of Brain Sciences, University College London; Department of Paediatric Neurology (Y.H.), Great Ormond Street Hospital for Children, London; Department of Neurology (C. Halfpenny), University Hospital Southampton NHS Foundation Trust; Department of Neurology (C. Hemingway), Great Ormond Street Hospital for Children, London and Institute of Neurology; Department of Neurology (J.C.H.), University of Plymouth Faculty of Health and University Hospitals; Department of Ophthalmology (E.O.S.), King's College Hospital NHS Foundation Trust, London; Department of Neurology (W.R.), St George's University Hospitals NHS Foundation Trust, London; Department of Neurology (R.J.M.), Gloucestershire Hospitals National Health Service Foundation Trust; Department of Neurology (V.W.), King's College Hospital NHS Foundation Trust, London; Department of Neurology (V.W.), Guy's and St Thomas' National Health Service Foundation Trust, London; Department of Paediatric Neurology (S.R.), John Radcliffe Hospital, Oxford; and Neurology Department (R.G.), Wexham Park Hospital, Frimley Foundation Health Trust, Slough, United Kingdom.
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- Results indicated that specific relapse types, particularly the combination of transverse myelitis and optic neuritis, had the most substantial impact on increasing residual disability.
Cerebellar Involvement in Attacks of Aquaporin-4-IgG Positive Neuromyelitis Optica Spectrum Disorder.
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Objectives: To characterize the frequency and clinicoradiologic phenotype of cerebellar involvement in attacks of aquaporin-4-IgG positive neuromyelitis optica spectrum disorder (AQP4+NMOSD) which are incompletely captured in current diagnostic criteria.
Methods: Brain MRI scans from patients with AQP4+NMOSD in the Mayo Clinic database were reviewed, and those with cerebellar T2-hyperintense lesions ≤30 days from attack onset were included for clinical and radiologic characterization.
Results: From 432 patients with AQP4+NMOSD, we identified 17 (4%) with cerebellar attacks.
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