Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Comparison of the rate of HLA antigens I in 81 patients with frequently occurring sympathoadrenal paroxysms (SAP) associated with vegetovascular dystonia and 113 healthy subjects revealed the increase of the number of antigen B12 carriers among the patients as compared to the healthy subjects' group. The number of antigens A9, B35 in SAP patients was elevated whereas that of B18, B38 and B40 decreased. SAP related to age-associated hormonal rearrangements were marked by antigens Cw4 and A1, the grave SAP patterns by B12, SAP without nocturnal paroxysms and the early disease onset by the lack of antigen A19. The dominant gene that determines the onset of SAP is localizes in the HLA area. It may be associated with a hypothetical gene analogous to the locus implicated in the determination of the threshold of neuromuscular excitability of rats. It is not excluded that such a relationship is mediated via the blood content of Mg2+.
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PMID:[HLA antigens in persons with a predisposition to frequent sympathetic-adrenal paroxysms]. 133 53

The discovery of genes implicated in familial forms of Parkinson's disease (PD) has provided new insights into the molecular events leading to neurodegeneration. Clinically, patients with genetically determined PD can be difficult to distinguish from those with sporadic PD. Monogenic causes include autosomal dominantly (SNCA, LRRK2, VPS35, EIF4G1) as well as recessively (PARK2, PINK1, DJ-1) inherited mutations. Additional recessive forms of parkinsonism present with atypical signs, including very early disease onset, dystonia, dementia and pyramidal signs. New techniques in the search for phenotype-associated genes (next-generation sequencing, genome-wide association studies) have expanded the spectrum of both monogenic PD and variants that alter risk to develop PD. Examples of risk genes include the two lysosomal enzyme coding genes GBA and SMPD1, which are associated with a 5-fold and 9-fold increased risk of PD, respectively. It is hoped that further knowledge of the genetic makeup of PD will allow designing treatments that alter the course of the disease.
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PMID:Genetics of Parkinson's disease: the yield. 2426 84