A SCA7 premutation may be a novel Mendelian modifier of MS course: A case report
| Autor: | Leif Wiklund, Christopher Lindberg, Markus Axelsson, Oluf Andersen, Christina Sundal |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Cerebellar Ataxia Primary progressive 03 medical and health sciences symbols.namesake 0302 clinical medicine Progressive cerebellar ataxia Humans Medicine 030212 general & internal medicine Ataxin-7 business.industry Multiple sclerosis Brain Spastic paraparesis General Medicine Multiple Sclerosis Chronic Progressive medicine.disease Magnetic Resonance Imaging Comorbidity Pyramidal symptoms Neurology Mutation Mendelian inheritance symbols Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Multiple Sclerosis and Related Disorders. 31:148-150 |
| ISSN: | 2211-0348 |
| DOI: | 10.1016/j.msard.2019.04.009 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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