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April 2022; 8 (2) Clinical/Scientific NoteOpen Access

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum

A Case Report

View ORCID ProfileFrancesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, View ORCID ProfileEnrico Bertini, Adele D'Amico
First published March 3, 2022, DOI: https://doi.org/10.1212/NXG.0000000000000661
Francesco Nicita
From the Genetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
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  • ORCID record for Francesco Nicita
Lorena Travaglini
From the Genetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
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  • For correspondence: lorena.travaglini@opbg.net
Francesco Bombelli
From the Genetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
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  • For correspondence: francescobombelli@gmail.com
Michele Tosi
From the Genetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
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  • For correspondence: michele.tosi@opbg.net
Stefano Pro
From the Genetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
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  • For correspondence: stefano.pro@opbg.net
Enrico Bertini
From the Genetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
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  • For correspondence: enricosilvio.bertini@opbg.net
Adele D'Amico
From the Genetics and Rare Diseases Research Division (N.D.F., L.T., M.T., E.B., A.D.A.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS; Studio Neurologico Laterano (F.B.); and Neurophysiology Unit (S.P.), Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
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  • For correspondence: adele2.damico@opbg.net
Full PDF
Citation
Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum
A Case Report
Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
Neurol Genet Apr 2022, 8 (2) e661; DOI: 10.1212/NXG.0000000000000661

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    Figure Brain Magnetic Resonance Imaging, Sagittal T2-Weighted and Axial T2-FLAIR Images, Performed at Age 41 Years

    Mildly increased frontotemporal subarachnoid spaces (A) and thin corpus callosum (B), with no basal ganglia (A), white matter (A), cerebellum, and midbrain anomalies (B).

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    Part of the neurologic examination of the patient showing slow movements and mild dysmetria but no tremor during nose-finger and finger chase tests, dystonic posturing of lower limbs (prevailing on the left side), and festinating gait pattern.Download Supplementary Video 1 via http://dx.doi.org/10.1212/000661_Video_1

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