Stapedial reflex in myotonic dystrophy type 1 and CTG repeat expansion

2001 ◽  
Vol 248 (12) ◽  
pp. 1056-1061 ◽  
Author(s):  
Ryuichi Osanai ◽  
Masanobu Kinoshita ◽  
Kazuhiko Hirose
Keyword(s):  
Myotonic Dystrophy ◽  
Repeat Expansion ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Stapedial Reflex ◽  
Ctg Repeat

scholarly journals Facial emotion recognition in myotonic dystrophy type 1 correlates with CTG repeat expansion

2009 ◽  
Author(s):  
Stefan Winblad ◽  
Pauls Pauls Hellström ◽  
Christopher Lindberg ◽  
Stefan Hansen
Keyword(s):  
Emotion Recognition ◽  
Myotonic Dystrophy ◽  
Repeat Expansion ◽  
Facial Emotion Recognition ◽  
Facial Emotion ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Personality Dimensions ◽  
Ctg Repeat

We investigated the ability of patients with myotonic dystrophy type 1 to recognise basic facial emotions. We also explored the relationship between facial emotion recognition, neuropsychological data, personality, and CTG repeat expansion data in the DM-1 group. In total, 50 patients with DM-1 (28 women and 22 men) participated, with 41 healthy controls. Recognition of facial emotional expressions was assessed using photographs of basic emotions. A set of tests measured cognition and personality dimensions, and CTG repeat size was quantified in blood lymphocytes. Patients with DM-1 showed impaired recognition of facial emotions compared with controls. A significant negative correlation was found between total score of emotion recognition in a forced choice task and CTG repeat size. Furthermore, specific cognitive functions (vocabulary, visuospatial construction ability, and speed) and personality dimensions (reward dependence and cooperativeness) correlated with scores on the forced choice emotion recognition task. These findings revealed a CTG repeat dependent facial emotion recognition deficit in the DM-1 group, which was associated with specific neuropsychological functions. Furthermore, a correlation was found between facial emotional recognition ability and personality dimensions associated with sociability. This adds a new clinically relevant dimension in the cognitive deficits associated with DM-1.

Survival and CTG repeat expansion in adults with myotonic dystrophy type 1

2011 ◽  
Vol 43 (5) ◽  
pp. 648-651 ◽  
Author(s):  
William J. Groh ◽  
Miriam R. Groh ◽  
Changyu Shen ◽  
Darren G. Monckton ◽  
Cynthia L. Bodkin ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Repeat Expansion ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Ctg Repeat

Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution

2017 ◽  
Vol 27 (12) ◽  
pp. 1106-1114 ◽  
Author(s):  
N.M. Murillo-Melo ◽  
L.C. Márquez-Quiróz ◽  
R. Gómez ◽  
L. Orozco ◽  
E. Mendoza-Caamal ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Mexican Population ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Allelic Distribution ◽  
Ctg Repeat

Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder

Gene ◽  
2013 ◽  
Vol 522 (2) ◽  
pp. 226-230 ◽  
Author(s):  
Ashok Kumar ◽  
Sarita Agarwal ◽  
Divya Agarwal ◽  
Shubha R. Phadke
Keyword(s):  
Myotonic Dystrophy ◽  
Repeat Expansion ◽  
Triplet Repeat ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Triplet Repeat Expansion

scholarly journals MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

Brain ◽  
2019 ◽  
Vol 142 (7) ◽  
pp. 1876-1886 ◽  
Author(s):  
Michael Flower ◽  
Vilija Lomeikaite ◽  
Marc Ciosi ◽  
Sarah Cumming ◽  
Fernando Morales ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Association Study ◽  
Huntington’S Disease ◽  
Myotonic Dystrophy ◽  
Disease Onset ◽  
Repeat Expansion ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Exon 1

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.

Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1

Neurology ◽  
2004 ◽  
Vol 62 (7) ◽  
pp. 1081-1089 ◽  
Author(s):  
E. L. Logigian ◽  
R. T. Moxley ◽  
C. L. Blood ◽  
C. A. Barbieri ◽  
W. B. Martens ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Repeat Length ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Ctg Repeat
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