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- Title
Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding.
- Authors
Samkar, Anusha; Leen, Willemijn G.; Willemsen, Michèl A. A. P.; Verrips, Aad; van Samkar, Anusha
- Abstract
Glucose transporter protein type 1 deficiency syndrome (GLUT1DS) is a rare autosomal dominant metabolic disorder presenting with a variety of neurological symptoms.[1] It is caused by pathogenic mutations in the I SCL2A1 i gene, leading to impaired transportation of glucose into the brain. In most patients, brain magnetic resonance imaging (MRI) is normal or shows minor aspecific abnormalities such as subtle delayed myelination.[2] Little is known about the clinical and radiological course during adult life.
- Subjects
BASAL ganglia; CARRIER proteins; GLUCOSE transporters; MAGNETIC resonance imaging; ADULTS; BASAL ganglia diseases
- Publication
Annals of Neurology, 2020, Vol 87, Issue 1, p10
- ISSN
0364-5134
- Publication type
journal article
- DOI
10.1002/ana.25640