KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

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Term Occurence Count Dictionary
leukodystrophy 1 endocrinologydiseases
mitochondrial disease 6 endocrinologydiseases
phenobarbital 1 endocrinologydiseasesdrugs
lactic acidosis 3 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
phenobarbital 6325 age when, a few days after a febrile illness, he had seizures and psychomotor regression. He started phenobarbital treatment. In the following months he showed a slow psychomotor improvement: trunk control was recovered,
Select Disease Character Offset Disease Term Instance
lactic acidosis 24916 (in spite of normal brain MRI) associated with p.Leu378His and p.Pro418Arg [[12]]. In both patients lactic acidosis was detected. In the first case, the mitochondrial enzyme defects were rescued by cDNA complementation
lactic acidosis 26790 B, the severity of the phenotype, the clinical onset related to febrile illness and the presence of lactic acidosis suggested a mitochondrial disease that was directly investigated in spite of normal MRC and PDH activities
lactic acidosis 26963 investigated in spite of normal MRC and PDH activities in fibroblasts.In patient C, clinical picture and lactic acidosis claimed the idea of a mitochondrial disorder as already suggested also in patient A, supported by mild
leukodystrophy 33399 compound heterozygosity with p.Pro533Ser in Pts 21–22; all these three individuals were characterized by leukodystrophy and hearing problems but the MRI features were not identical and other clinical symptoms were different
mitochondrial disease 11587 guanidinoacetate were normal. Genetic screening using NGS panel for Aicardi-Goutieres syndrome was negative. A mitochondrial disease s was suspected, muscle biopsy was not possible because of marked hypotrophy. MRC complexes and pyruvate
mitochondrial disease 23012 damaging by multiple bioinformatics tools. The first case of KARS mutations associated with suspected mitochondrial disease was reported in 2013 [[4]]. The authors analyzed by exome sequencing a series of 102 patients with clinical
mitochondrial disease 26818 phenotype, the clinical onset related to febrile illness and the presence of lactic acidosis suggested a mitochondrial disease that was directly investigated in spite of normal MRC and PDH activities in fibroblasts.In patient C,
mitochondrial disease 27162 A, supported by mild lactate elevation at spectroscopy study. In KARS-mutant cases reported to date, mitochondrial disease was suspected and confirmed by biochemical diagnosis only in patients with cardiomyopathy (Pt 19 and
mitochondrial disease 27438 Pt 15 but biochemical studies on tissue were not performed. In other cases, metabolic analyses for mitochondrial disease were unremarkable or not performed. In 5 of 26 KARS patients reported to date, including our cases,
mitochondrial disease 28524 bilateral symmetric involvement of the bulbar pyramids and lateral bulbar regions resembling the pattern of mitochondrial disease s were observed. The supratentorial WM involvement was characterized by uniform slight hyperintensity

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