Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We conducted genetic analysis of the fused in sarcoma gene (FUS) in Chinese Han patients with essential tremor (ET) in a case-control association study. One hundred eighty unrelated patients with ET were screened for mutations in the coding region and exon-intron boundaries of FUS. Reverse transcriptase polymerase chain reaction analysis was performed to evaluate if the c.1176G>A variant results in change of splice site. Two hundred seventy-three normal control subjects were also analyzed when DNA variants were identified in ET cohort. A novel missense mutation, c.1176G>A (p.M392I), in FUS was identified in a 62-year-old patient. Four known variants (c.52C>A, p.P18T; c.147C>A, p.G49G; c.291T>C, p.Y97Y; c.684C>T, p.G228G) were observed in the case-control study without statistically significant differences in genotype and allele distributions. Mutation(s) in FUS might be associated with a small subset of ET cases in the Chinese population.
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PMID:Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor. 2358 60

Mutations in the mitochondrial alanyl-transfer (t)RNA synthetase 2 (AARS2; OMIM 612035) have been linked to leukoencephalopathy recently. Until now, there have been only 13 cases reported in the literature. Hence, the clinical and genetic characteristics of this disease are not fully understood. Here, we reported an adolescence-onset male leukoencephalopathy patient characterized by progressive limb tremor at the age of 17 years. He had no signs of a cardiomyopathy. Magnetic resonance imaging scanning demonstrated severe cerebellar atrophy and white matter abnormalities involving descending tracts. Focused exome sequencing revealed he had novel compound heterozygous mutations in AARS2 gene (c.2265dupA; p.Arg756fs and c.650C>T; p.Pro217Leu). The patient was diagnosed with AARS2 mutation-related leukodystrophy (AARS2-L). We report a case with novel AARS2 gene mutations with developed striking cerebellar atrophy and leukoencephalopathy, which helps to further understand the clinical and genetic heterogeneity of AARS2-L.
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PMID:An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report. 2966 64