scholarly journals Huntington disease reduced penetrance alleles occur at high frequency in the general population

Neurology ◽  
2016 ◽  
Vol 87 (3) ◽  
pp. 282-288 ◽  
Author(s):  
Chris Kay ◽  
Jennifer A. Collins ◽  
Zosia Miedzybrodzka ◽  
Steven J. Madore ◽  
Erynn S. Gordon ◽  
...  
Keyword(s):  
General Population ◽  
Huntington Disease ◽  
High Frequency ◽  
Reduced Penetrance

High frequency of intermediate alleles on huntington disease-associated haplotypes in British Columbia's general population

2013 ◽  
Vol 162 (8) ◽  
pp. 864-871 ◽  
Author(s):  
Alicia Semaka ◽  
Chris Kay ◽  
Crystal N. Doty ◽  
Jennifer A. Collins ◽  
Natalie Tam ◽  
...  
Keyword(s):  
General Population ◽  
Huntington Disease ◽  
High Frequency ◽  
Intermediate Alleles

President's Address: Twinning in Families of Triplets

1990 ◽  
Vol 39 (3) ◽  
pp. 279-293 ◽  
Author(s):  
A.W. Eriksson
Keyword(s):  
General Population ◽  
Physical Condition ◽  
High Frequency ◽  
Maternal Age ◽  
The Past ◽  
Low Rate

AbstractA study was conducted on twinning in relatives of consecutive triplet sets in the Åland Islands in the years 1740-1939. The incidence of twinning in sibships of triplets was extremely high, 80/1000 (56/1000 before and 143/1000 after the triplet maternity). In Finland as a whole, 1905-1954, the twinning rate was among mothers of triplets 38/1000, ie, about 2.6 times the rate in general population, and was higher after (48/1000) than before the triplet maternity (34/1000). In the sibships of fathers of triplets there was a low rate of twinning (below 10/1000) both of same-sexed (SS) and of opposite-sexed (OS) triplets. Among sibships of mothers of OS triplets the twinning rate was 18/1000 and among mothers' sibships of SS triplets 26/1000. The series of triplet families from both Åland and Finland as a whole indicate a considerably higher frequency of twinning on the maternal than on the paternal side. The sibships of OS triplets in Finland have higher twinning rates than sibships of SS triplets (50/1000 vs 27/1000). In sibships of triplets, not only the DZ but also the MZ twinning rates were approximately twice as high as those in the general population. The triplet rates in Finland were increasing strongly with maternal age and were in the last century among mothers of 30-39 years of age considerably higher than among mothers from this century. This, in combination with higher mean parity, may explain the high rates of multiple maternities in sibships of triplets in the past. The rate of triplet maternities seems to be more sensitive to sociodemographic changes than the rate of twin maternities. Mothers of triplets in Finland had a high frequency (more than 40%) of prenuptially conceived firstborn children. This, and a short protogenesic interval indicate that triplet-prone mothers are more fecundable, ie, they conceive with greater ease and/or may have a better physical condition than other women for completing a gestation with multiple embryos.

Accounts of Suicidality in the Huntington Disease Community

2012 ◽  
Vol 65 (4) ◽  
pp. 317-334 ◽  
Author(s):  
Michael Halpin
Keyword(s):  
Health Care ◽  
General Population ◽  
Huntington Disease ◽  
Health Professionals ◽  
Rational Suicide ◽  
Academic Literature ◽  
Study Participants ◽  
Mental Pathology ◽  
Disease Community

Health professionals, researchers, and philosophers have debated extensively about suicide. Some believe suicides result from mental pathology, whereas others argue that individuals are capable of rational suicide. This debate is particularly poignant within illness communities, where individuals may be suffering from chronic and incurable conditions. This article engages with these issues by presenting the accounts of 20 individuals with Huntington disease (HD), a fatal degenerative condition, and 10 informal caregivers (e.g., spouses). Suicide is a leading cause of death amongst people with HD, with an incidence rate many times higher than the general population. In contrast to the majority of the academic literature on HD suicidality, study participants did not connect suicide with mental pathology. Instead, they perceived suicide as a response to the realities of living with HD, such as prolonged physiological degeneration and the need for long-term intensive health care. These findings are subsequently discussed in relation to the rational-pathological suicide binary.

Chromosome Findings in Chronic Psychotic Patients

1968 ◽  
Vol 114 (514) ◽  
pp. 1167-1174 ◽  
Author(s):  
J. M. Anders ◽  
G. Jagiello ◽  
P. E. Polani ◽  
F. Giannelli ◽  
J. L. Hamerton ◽  
...  
Keyword(s):  
General Population ◽  
High Frequency ◽  
Sex Chromosome ◽  
Mental Deficiency ◽  
Testicular Atrophy ◽  
Dementia Praecox ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromatin ◽  
High Incidence ◽  
Schizophrenic Patients

The observation of a higher incidence of sex-chromosome abnormalities amongst patients in mental deficiency and subnormality institutions than in the general population (Maclean et al., 1962; Court Brown et al., 1964) suggested that a sex chromatin survey of a theoretically related chronic psychotic population might be of interest. Mott (1919) observed a high frequency of testicular atrophy in dementia praecox, particularly in patients dying in early adolescence, and Forster (quoted by Mott, 1919) reported on the ovarian findings in similarly affected women. Hemphill et al. (1944) found a high incidence of testicular atrophy in a series of ninety male schizophrenic patients.

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