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Anticipation (genetics)

About: Anticipation (genetics) is a research topic. Over the lifetime, 669 publications have been published within this topic receiving 21784 citations. The topic is also known as: Genetic Anticipation & Anticipation, Genetic.


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Journal ArticleDOI
TL;DR: Although initial analysis demonstrated significant anticipation of age at death between generations in patients with familial ALS, further analysis demonstrated features of regression to the mean, suggesting that the perceived differences are the result of bias.
Abstract: We investigated 185 families with ALS for evidence of anticipation and mitochondrial inheritance. Although initial analysis demonstrated significant anticipation of age at death between generations in patients with familial ALS, further analysis demonstrated features of regression to the mean, suggesting that the perceived differences are the result of bias. In addition, there was no evidence of an effect of preferential maternal inheritance, which would have supported transmission of mitochondrial DNA mutations.

13 citations

Journal Article
TL;DR: The prevalence of DSM-III conduct and adjustment disorders in two adolescent psychiatric facilities, both located near large U.S. cities, was investigated, finding that the conduct disorders were primarily "aggressive" subtypes suggesting that this characteristic may influence hospitalization and diagnostic decisions.
Abstract: The prevalence of DSM-III conduct and adjustment disorders in two adolescent psychiatric facilities, both located near large U.S. cities, was investigated. Overall, 31.6% of the adolescent inpatients were conduct disordered while 12.5% were adjustment disordered. The conduct disorders were primarily "aggressive" subtypes suggesting that this characteristic may influence hospitalization and diagnostic decisions. Such data on prevalence assists future treatment planning, allowing anticipation of case loads.

13 citations

Journal ArticleDOI
TL;DR: A 2‐year‐old boy is described, the youngest member of a family with a history for myotonia in 2 generations, who is diagnosed with DM2 of late juvenile onset and shows general muscular hypotonia with delayed statomotoric development.
Abstract: Proximal myotonic myopathy (DM2, PROMM) has not been reported in patients younger than 18 years, and apparent lack of congenital and childhood forms is thought to be one of the distinctive clinical characteristics of this trait. We now describe a 2-year-old boy, the youngest member of a family with a history for myotonia in 2 generations. The patient's 35-year-old mother was diagnosed with DM2 of late juvenile onset. She developed aggravating myotonic symptoms during pregnancy. Remarkably few intrauterine child movements were noticed. After birth the child showed general muscular hypotonia with delayed statomotoric development (sitting and crawling at 13 months, first lifting into standing position at 18 months). Muscle reflexes were normal. In the CL3N58 region of ZNF9, DM2-typical unstable expanded CCTG arrays of about 14.5 kb (about 2,500 repeats) were detected both in the mother and the patient by Southern blotting. Expansion of the DM1-specific DMPK CTG repeat was excluded. © 2008 Wiley-Liss, Inc.

13 citations

Journal ArticleDOI
TL;DR: A multigenerational family with uncomplicated hereditary spastic paraplegia type 4 and apparent anticipation is reported and it is hypothesized that this deletion mutation may be dynamic and variability in the size of the deletion could account for the anticipation.
Abstract: Objective We report a multigenerational family with uncomplicated hereditary spastic paraplegia type 4 and apparent anticipation. Genetic analysis of the proband revealed a frame shift mutation (5 base pair deletion) in exon 9 of the SPG4 gene encoding the spastin protein. We hypothesized that this deletion mutation may be dynamic and variability in the size of the deletion could account for the anticipation. Methods Clinical and genetic analysis of this family and the deletion mutation. Results In this family, the age of onset, which ranges from 3 to 50 years shows an average decrease in the age of onset of 21.8 years per transmission over three generations. Genetic analysis of multiple family members indicates that all affected members carry the same c.1340_1344delTATAA mutation and that it is not dynamic. Conclusion In this family, other molecular mechanisms may contribute to development of anticipation.

13 citations

Journal ArticleDOI
TL;DR: The family presented here raises the important question whether surveillance of CCM families with gradient-echo MRI should not only include the cerebrum, but the spinal cord as well.
Abstract: Background: Cerebral cavernous malformations (CCM) are vascular brain anomalies which can result in a variety of neurological symptoms. Familial CCM is inherited as an autosomal-dom

13 citations


Performance
Metrics
No. of papers in the topic in previous years
YearPapers
202116
202013
201911
201818
201716
201615