Leukodystrophies with abnormal peaks on magnetic resonance spectroscopy pane [4 genes]
Some patients with leukodystrophy show abnormal peaks on magnetic resonance spectroscopy (MRS). Although these peaks are usually non-specific, they can be relevant in some clinical scenarios. In this sense, patients with Sjögren-Larsson syndrome, which produces lipid peaks in white matter, show a characteristic abnormal lipid peak at 1.30 ppm.
On the other hand, patients with cerebrotendinous xanthomatosis show increases in lipid and lactate peaks and decreased N-acetylaspartate levels in the cerebellum. Although these findings are non-specific, since the disease is related to lipid accumulation in the central nervous system, MR spectroscopy can be used as a non-invasive biomarker of response to treatment.
Finally, some patients with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation may show lactate peaks on MR spectroscopy, thus helping their diagnosis.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
- ALDH3A2: Sjögren-Larsson syndrome
- CYP27A1: Cerebrotendinous xanthomatosis
- EARS2: Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
- DARS2: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)