Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency

Mov Disord. 2013 Nov;28(13):1904-5. doi: 10.1002/mds.25573. Epub 2013 Jun 27.

Authors

Michael C Kruer¹, Tyler N Jepperson, Jill M Weimer, Amy Mroch, Laura Davis-Keppen, Patricia Crotwell, Jillian Parboosingh

Affiliation

¹ Sanford Children's Health Research Center, Sioux Falls, South Dakota, USA; Sanford Children's Specialty Clinic, Sioux Falls, South Dakota, USA.

PMID: 23813796
DOI: 10.1002/mds.25573

No abstract available

Publication types

Case Reports
Letter
Video-Audio Media

MeSH terms

Ataxia / complications
Ataxia / genetics*
Brain / pathology
Child, Preschool
Family Health
Female
Humans
Magnetic Resonance Imaging
Male
Mutation / genetics*
Polymorphism, Single Nucleotide / genetics
Receptors, LDL / genetics*
Vitamin E Deficiency / complications
Vitamin E Deficiency / genetics*

Substances

Receptors, LDL
VLDL receptor