No association of the SCA1 (CAG)31 allele with Huntington’s disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3

2004 ◽  
Vol 14 (2) ◽  
pp. 61-63 ◽  
Author(s):  
Yorck Hellenbroich ◽  
Manuel Kaulich ◽  
Sven Opitz ◽  
Eberhard Schwinger ◽  
Christine Zühlke
Brain ◽  
2019 ◽  
Vol 142 (7) ◽  
pp. 1876-1886 ◽  
Author(s):  
Michael Flower ◽  
Vilija Lomeikaite ◽  
Marc Ciosi ◽  
Sarah Cumming ◽  
Fernando Morales ◽  
...  

Abstract The mismatch repair gene MSH3 has been implicated as a genetic modifier of the CAG·CTG repeat expansion disorders Huntington’s disease and myotonic dystrophy type 1. A recent Huntington’s disease genome-wide association study found rs557874766, an imputed single nucleotide polymorphism located within a polymorphic 9 bp tandem repeat in MSH3/DHFR, as the variant most significantly associated with progression in Huntington’s disease. Using Illumina sequencing in Huntington’s disease and myotonic dystrophy type 1 subjects, we show that rs557874766 is an alignment artefact, the minor allele for which corresponds to a three-repeat allele in MSH3 exon 1 that is associated with a reduced rate of somatic CAG·CTG expansion (P = 0.004) and delayed disease onset (P = 0.003) in both Huntington’s disease and myotonic dystrophy type 1, and slower progression (P = 3.86 × 10−7) in Huntington’s disease. RNA-Seq of whole blood in the Huntington’s disease subjects found that repeat variants are associated with MSH3 and DHFR expression. A transcriptome-wide association study in the Huntington’s disease cohort found increased MSH3 and DHFR expression are associated with disease progression. These results suggest that variation in the MSH3 exon 1 repeat region influences somatic expansion and disease phenotype in Huntington’s disease and myotonic dystrophy type 1, and suggests a common DNA repair mechanism operates in both repeat expansion diseases.


Biochemistry ◽  
2017 ◽  
Vol 56 (27) ◽  
pp. 3463-3474 ◽  
Author(s):  
Jonathan L. Chen ◽  
Damian M. VanEtten ◽  
Matthew A. Fountain ◽  
Ilyas Yildirim ◽  
Matthew D. Disney

2016 ◽  
Vol 74 (4) ◽  
pp. 303-306 ◽  
Author(s):  
Hélio A. G. Teive ◽  
Adriana Moro ◽  
Mariana Moscovich ◽  
Renato P. Munhoz

ABSTRACT Increased of sexual arousal (ISA) has been described in different neurological diseases. The purpose of this study was present a case series of ISA in patients with movement disorders. Method Fifteen patients with different forms of movement disorders (Parkinson’s disease, Huntington’s disease, Tourette´s syndrome, spinocerebellar ataxia type 3), were evaluated in the Movement Disorders Unit of the Federal University of Paraná. Results Among Parkinson’s disease patients there were seven cases with different forms of ISA due to dopaminergic agonist use, levodopa abuse, and deep brain stimulation (DBS). In the group with hyperkinetic disorders, two patients with Huntington’s disease, two with Tourette’s syndrome, and four with spinocerebellar ataxia type 3 presented with ISA. Conclusions ISA in this group of patients had different etiologies, predominantly related to dopaminergic treatment or DBS in Parkinson’s disease, part of the background clinical picture in Huntington’s disease and Tourette’s syndrome, and probably associated with cultural aspects in patients with spinocerebellar ataxia type 3.


2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Norlinah Mohamed Ibrahim ◽  
Yue Hui Lau ◽  
Noorasyikin Ariffin ◽  
Siti Hajar Md Desa ◽  
Elena Azizan ◽  
...  

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