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Mult Scler Relat Disord. 2019 Apr 13;31:148-150. doi: 10.1016/j.msard.2019.04.009. [Epub ahead of print]

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

Author information

1
Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
2
Neurology Unit, Department of Medicine, Sunderby Hospital, Luleå, Sweden.
3
Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Clinical Genetics, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
4
Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. Electronic address: oluf.andersen@neuro.gu.se.

Abstract

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.

KEYWORDS:

Comorbidity; Mendelian; Multiple sclerosis; Premutation; SCA7

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