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February 01, 2018; 4 (1) ArticleOpen Access

Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A

Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns and Michael Levy
First published January 30, 2018, DOI: https://doi.org/10.1212/NXG.0000000000000213
Maureen A. Mealy
From the Department of Neurology (M.A.M., S.J.P., C.A.P., M.L.), Institute of Genetic Medicine (N.L.S., D.A., D.V., K.H.B.), and Department of Pathology (K.H.B.), Johns Hopkins University, Baltimore, MD; and Department of Neurology (T.-S.N.), Chonnam National University Medical School, Gwangju, South Korea.
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Tai-Seung Nam
From the Department of Neurology (M.A.M., S.J.P., C.A.P., M.L.), Institute of Genetic Medicine (N.L.S., D.A., D.V., K.H.B.), and Department of Pathology (K.H.B.), Johns Hopkins University, Baltimore, MD; and Department of Neurology (T.-S.N.), Chonnam National University Medical School, Gwangju, South Korea.
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Santiago J. Pardo
From the Department of Neurology (M.A.M., S.J.P., C.A.P., M.L.), Institute of Genetic Medicine (N.L.S., D.A., D.V., K.H.B.), and Department of Pathology (K.H.B.), Johns Hopkins University, Baltimore, MD; and Department of Neurology (T.-S.N.), Chonnam National University Medical School, Gwangju, South Korea.
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Carlos A. Pardo
From the Department of Neurology (M.A.M., S.J.P., C.A.P., M.L.), Institute of Genetic Medicine (N.L.S., D.A., D.V., K.H.B.), and Department of Pathology (K.H.B.), Johns Hopkins University, Baltimore, MD; and Department of Neurology (T.-S.N.), Chonnam National University Medical School, Gwangju, South Korea.
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Nara L. Sobreira
From the Department of Neurology (M.A.M., S.J.P., C.A.P., M.L.), Institute of Genetic Medicine (N.L.S., D.A., D.V., K.H.B.), and Department of Pathology (K.H.B.), Johns Hopkins University, Baltimore, MD; and Department of Neurology (T.-S.N.), Chonnam National University Medical School, Gwangju, South Korea.
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Dimitrios Avramopoulos
From the Department of Neurology (M.A.M., S.J.P., C.A.P., M.L.), Institute of Genetic Medicine (N.L.S., D.A., D.V., K.H.B.), and Department of Pathology (K.H.B.), Johns Hopkins University, Baltimore, MD; and Department of Neurology (T.-S.N.), Chonnam National University Medical School, Gwangju, South Korea.
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David Valle
From the Department of Neurology (M.A.M., S.J.P., C.A.P., M.L.), Institute of Genetic Medicine (N.L.S., D.A., D.V., K.H.B.), and Department of Pathology (K.H.B.), Johns Hopkins University, Baltimore, MD; and Department of Neurology (T.-S.N.), Chonnam National University Medical School, Gwangju, South Korea.
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Kathleen H. Burns
From the Department of Neurology (M.A.M., S.J.P., C.A.P., M.L.), Institute of Genetic Medicine (N.L.S., D.A., D.V., K.H.B.), and Department of Pathology (K.H.B.), Johns Hopkins University, Baltimore, MD; and Department of Neurology (T.-S.N.), Chonnam National University Medical School, Gwangju, South Korea.
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Michael Levy
From the Department of Neurology (M.A.M., S.J.P., C.A.P., M.L.), Institute of Genetic Medicine (N.L.S., D.A., D.V., K.H.B.), and Department of Pathology (K.H.B.), Johns Hopkins University, Baltimore, MD; and Department of Neurology (T.-S.N.), Chonnam National University Medical School, Gwangju, South Korea.
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Citation
Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
Maureen A. Mealy, Tai-Seung Nam, Santiago J. Pardo, Carlos A. Pardo, Nara L. Sobreira, Dimitrios Avramopoulos, David Valle, Kathleen H. Burns, Michael Levy
Neurology Genetics Feb 2018, 4 (1) e213; DOI: 10.1212/NXG.0000000000000213

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    Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations

    (A) Sister 1 with idiopathic transverse myelitis (ITM) shows a T2 hyperintense lesion 38 years after the onset at T8/T9 (arrows). (B) Sister 2 with ITM shows an acute T2 hyperintense lesion at T4/T5 (arrows). (C) Unrelated patient with ITM shows an acute T2 hyperintense lesion at T3 (arrows).

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    Figure 2 DNA sequence analysis of VPS37A

    (A) Electropherogram of the patient reveals a nonsynonymous homozygous C-to-A substitution (red arrow) at position 700 bp of VPS37A (c.700C>A, p.Leu234Ile). (B) Electropherogram reveals a heterozygous c.700C>A mutation (blue arrow) in patients without idiopathic transverse myelitis. (C) Representative electropherogram of VPS37A from normal controls (black arrow). (D) p.Leu234 residue is highly conserved and found in evolutionary distant orthologs down to zebrafish. The sequences were derived from GenBank records with the following accession numbers: Homo sapiens (NP_689628.2), Callithrix jacchus (marmoset; XP_008977480.1), Rattus norvegicus (Rat; NP_001020038.1), Mus musculus (house mouse; NP_291038.2), Gallus gallus (chicken; XP_420687.1), Xenopus laevis (African clawed frog; XP_018105271.1), and Danio rerio (zebrafish; NP_956284.1).

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    Figure 3 Pedigree of familial idiopathic transverse myelitis

    (A) Family with 2 affected sisters who are both positive for the VPS37A mutation (closed circles, P arrows) and 2 healthy brothers, one of whom is a carrier (half-filled square) and one of whom is not (clear square) and a healthy sister (clear circle). Their parents are not available to be tested. (B) A patient with idiopathic transverse myelitis was screened and found to have the mutation, with no known family history (closed circle, P arrow). Her sister is a healthy carrier (half-filled circle).

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  • Genetic linkage
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