Familial multiple sclerosis in patients with Von Hippel-Lindau disease
dc.contributor.author | Nath, Samir R. | |
dc.contributor.author | Grewal, Prabhjot | |
dc.contributor.author | Cho, Thomas | |
dc.contributor.author | Mao-Draayer, Yang | |
dc.date.accessioned | 2022-08-10T18:10:45Z | |
dc.date.available | 2022-08-10T18:10:45Z | |
dc.date.issued | 2022-03-08 | |
dc.identifier.citation | BMC Neurology. 2022 Mar 08;22(1):80 | |
dc.identifier.uri | https://doi.org/10.1186/s12883-022-02604-6 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/173561 | en |
dc.description.abstract | Abstract Background Multiple sclerosis (MS) is a progressive autoimmune demyelinating disorder. Recent studies suggest that a combination of genetic susceptibility and environmental insult contributes to its pathogenesis. Many candidate genes have been discovered to modulate susceptibility for developing MS by genome wide association studies (GWAS); these include major histocompatibility complex (MHC) genes and non-MHC genes. MS cases in the context of genetic diseases may provide different approaches and clues towards identifying novel genes and pathways involved in MS pathogenesis. Here, we present a case series of two related patients with concomitant Von Hippel-Lindau disease (VHLD) and MS. Case presentation We present two patients, a mother (case 1) and daughter (case 2), who developed superimposed relapsing-remitting multiple sclerosis in the background of the autosomal dominant genetic disorder VHLD. Several tumors characteristic of VHLD developed in both cases with pancreatic and renal neoplasms and cerebellar hemangioblastomas. In addition, both patients developed clinical symptoms consistent with multiple sclerosis, supported by radiologic lesions disseminating in time and space. Conclusion Though non-MHC susceptibility genes remain elusive in MS, we present the striking finding of superimposed multiple sclerosis in a mother and daughter with VHLD. The VHL gene is known to be the primary regulator of Nrf2, the well-established target of the FDA-approved therapeutic dimethyl fumarate. These cases provide support for further studies to determine whether VHLD pathway related genes represent a novel genetic link in multiple sclerosis. | |
dc.title | Familial multiple sclerosis in patients with Von Hippel-Lindau disease | |
dc.type | Journal Article | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/173561/1/12883_2022_Article_2604.pdf | |
dc.identifier.doi | https://dx.doi.org/10.7302/5292 | |
dc.language.rfc3066 | en | |
dc.rights.holder | The Author(s) | |
dc.date.updated | 2022-08-10T18:10:45Z | |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.