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A SCA7 premutation may be a novel Mendelian modifier of MS course: A case report

Journal article
Authors Christina Sundal
Markus Axelsson
L. Wiklund
Christopher Lindberg
Oluf Andersen
Published in Multiple Sclerosis and Related Disorders
Volume 31
Pages 148-150
ISSN 2211-0348
Publication year 2019
Published at Institute of Biomedicine, Department of Medical and Clinical Genetics
Institute of Neuroscience and Physiology, Department of Clinical Neuroscience
Pages 148-150
Language en
Keywords Comorbidity, Mendelian, Multiple sclerosis, Premutation, SCA7, ataxin 7, adult, Article, ATXN7 gene, case report, cerebellar ataxia, clinical article, clinical feature, disability, disease course, disease severity, follow up, gene mutation, human, male, nuclear magnetic resonance imaging, onset age, polymerase chain reaction
Subject categories Neurosciences, Medical Genetics


A proportion of patients with the phenotype of complex genetic disorders carry dominantly inherited Mendelian traits, exemplified by hereditary spastic paraparesis influencing pyramidal symptoms in some MS cases. We here describe a mutable ATXN7 gene, a SCA7 premutation, in a patient fulfilling contemporary definitions of primary progressive MS. His onset age, and onset with a severely progressive cerebellar ataxia syndrome, was outside the reported range of symptoms in a representative MS material. We suggest that an ATXN7 premutation is a novel genetic modifier of the course of MS. © 2019

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