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Abstract
Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1-DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders attributed to other genetic defects, and 346 healthy controls. We detected significantly reduced GLUT1 expression only on red blood cells from patients with GLUT1-DS (23 patients; 78%), including patients with inconclusive genetic analysis. This test opens perspectives for the screening of GLUT1-DS in children and adults with cognitive impairment, movement disorder, or epilepsy. Ann Neurol 2017;82:133-138.
(A) Repeatability: GLUT1‐DS patient P26 was analyzed 12 times along with a healthy…
Figure 1 (A) Repeatability: GLUT1‐DS patient P26 was analyzed 12 times along with a healthy control, in the same experiment. Standard deviations are shown, which translate into CVs below 2.5%, pointing out the test's high repeatability. (B,C,D) Reproducibility: GLUT1‐DS patient P26 was analyzed along with 5 healthy control samples. Experiment was repeated three times (3 days) by three operators in two distinct labs. Mean GLUT1 expression and standard deviations are plotted for each sample and each operator. Results were highly correlated between operators (all R 2 > 0.98). No significant difference was found between days, operators, nor labs; results were highly reproducible (Levene's test; all p values, > 0.93). CVs = coefficients of variation; GLUT1 = glucose transporter type 1; GLUT1‐DS = glucose transporter type 1 deficiency syndrome.
Figure 2
GLUT1 expression levels on RBC…
Figure 2
GLUT1 expression levels on RBC quantified by flow cytometry, expressed as % of…
Figure 2 GLUT1 expression levels on RBC quantified by flow cytometry, expressed as % of mean of healthy controls. Twenty‐three GLUT1‐DS patients, of 30 (black dots), clustered in a specific group, clearly distinct from 18 patients with other gene‐related movement disorders (white squares) and 346 healthy controls—the black curve represents the distribution fitting of a normal law to the series of data (healthy controls only). GLUT1 = glucose transporter type 1; GLUT1‐DS = glucose transporter type 1 deficiency syndrome; RBC = red blood cells; SD = standard deviation. See this image and copyright information in PMC
References
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