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Arch Neurol. 2008 Jun;65(6):809-11. doi: 10.1001/archneur.65.6.809.

Vitamin D-dependent rickets as a possible risk factor for multiple sclerosis.

Author information

1
Department of Clinical Medicine, University of Bergen, Bergen, Norway. oivind.torkildsen@gmail.com

Abstract

BACKGROUND:

Vitamin D-dependent rickets type I (VDDR I) (OMIM 264700) is a rare hereditary condition caused by a mutation in CYP27B1. Vitamin D is emerging as an important risk factor for susceptibility to multiple sclerosis (MS), but there have been no studies on the possible association between hereditary rickets and this disease.

OBJECTIVE:

To investigate the association between VDDR I and MS.

DESIGN:

Case studies.

SETTING:

Haukeland University Hospital, Bergen, Norway.

PATIENTS:

Three patients in 2 families with a co-occurrence of VDDR I and MS.

RESULTS:

All 3 patients had VDDR I verified by genetic testing and fulfilled the Poser criteria for MS. Two of the patients have undergone magnetic resonance imaging, which confirmed the diagnosis of long-lasting MS.

CONCLUSIONS:

Vitamin D-dependent rickets type I is a very uncommon genetic subtype of rickets. We have identified 3 patients with this disease who later developed MS. We propose that VDDR I and possibly other hereditary rickets mutations that influence vitamin D metabolism could be risk factors for this disease.

PMID:
18541802
DOI:
10.1001/archneur.65.6.809
[Indexed for MEDLINE]

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