Blood Test Developed to Detect Rare Neurological Disease

Compared with current diagnostic tests that use an invasive procedure (lumbar puncture) or complex DNA analysis, this new test, will be able to screen for the condition rapidly, within 48 hours and with ease in both adults and children.

De Vivo disease or glucose transporter type 1 deficiency syndrome (GLUT1-DS) is most often characterized by developmental delay, epilepsy and/or movement disorders in children. Formes frustres (abnormal movement episodes) have been described in children but also in adults.

A team of scientists working with those at Pitié-Salpêtrière University Hospital (Paris, France) tested a novel simple and rapid blood test in 30 patients with GLUT1-DS with predominant movement disorders, 18 patients with movement disorders due to other genetic defects and 346 healthy controls. In this study, blood samples from 30 De Vivo patients, with profiles differing according to age and symptoms were analyzed. Following comparison with samples from the healthy controls, the results show that the test is significantly conclusive in that it identified 78% of the De Vivo patients, including those for whom the genetic analysis was inconclusive.

The team used the FACSVerse flow cytometer to analyze the samples. The team 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. The scientists recommend the use of this new test in routine clinical practice in all neuropediatric and neurology departments. They suggest that its simplicity should enable more patients to be diagnosed in France.

This innovative novel blood test will make it possible to screen for the disease in all patients presenting with cognitive impairment, movement disorders, epilepsy or a combination of the three. The therapies available can considerably improve symptoms, including, for example, the control of epileptic seizures. However, since these are more effective when started early, timely diagnosis of the condition is crucial. Once a patient is diagnosed, metabolic therapies are available to alleviate the symptoms. The study was published on May 26, 2017, in the journal Annals of Neurology.

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Pitié-Salpêtrière University Hospital