scholarly journals β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

2013 ◽  
Vol 2 (1) ◽  
pp. 107-124 ◽  
Author(s):  
Angelica Vittori ◽  
Michael Orth ◽  
Raymund A. C. Roos ◽  
Tiago F. Outeiro ◽  
Flaviano Giorgini ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Copy Number ◽  
Age Of Onset ◽  
Genomic Copy Number ◽  
Genomic Copy

scholarly journals Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease

2014 ◽  
Vol 23 (12) ◽  
pp. 3129-3137 ◽  
Author(s):  
A. Vittori ◽  
C. Breda ◽  
M. Repici ◽  
M. Orth ◽  
R. A. C. Roos ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Copy Number ◽  
Glucose Transporter ◽  
Age Of Onset ◽  
Transporter Gene ◽  
Number Variation

Analysis of Genomic Copy Number Variation Across Psychiatric Disorders

2021 ◽  
Vol 89 (9) ◽  
pp. S106-S107
Author(s):  
Marieke Klein ◽  
Omar Shanta ◽  
Oanh Hong ◽  
Jeffrey MacDonald ◽  
Bhooma Thiruvahindrapuram ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Psychiatric Disorders ◽  
Copy Number ◽  
Genomic Copy Number ◽  
Genomic Copy ◽  
Number Variation ◽  
Genomic Copy Number Variation

scholarly journals Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study

2016 ◽  
Vol 18 (10) ◽  
pp. 1052-1055 ◽  
Author(s):  
Ye Cao ◽  
Zhihua Li ◽  
Jill A. Rosenfeld ◽  
Amber N. Pursley ◽  
Ankita Patel ◽  
...  
Keyword(s):  
Cohort Study ◽  
Copy Number ◽  
Copy Number Variations ◽  
Multicenter Cohort Study ◽  
Oral Clefts ◽  
Genomic Copy Number ◽  
Multicenter Cohort ◽  
Genomic Copy

Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles

2021 ◽  
Author(s):  
Erin I. McDonnell ◽  
Yuanjia Wang ◽  
Jill Goldman ◽  
Karen Marder
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age Of Onset ◽  
Reduced Penetrance

“organic Personality Disorder” as Part of Early Neuropsychiatric Manifestations in Huntington’s Disease - a Case Report

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
J. Maia
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Psychiatric Symptoms ◽  
Age Of Onset ◽  
Neuropsychiatric Symptoms ◽  
Personality Change ◽  
Psychotic Symptoms ◽  
Autosomal Dominant Disorder ◽  
Neuropsychiatric Manifestations ◽  
Psychiatric Manifestations

Huntington's Disease (HD) is an inherited autosomal dominant disorder characterized by motor, cognitive and psychiatric symptomatology, being considered a paradigmatic neuropsychiatric disorder that includes all three components of the "Triadic Syndromes": dyskinesia, dementia and depression.Firstly described in 1872 as an "Hereditary Chorea" by George Huntington only in 1993 was its responsible gene identified. A person who inherits the HD gene will sooner or later develop the disease. the age of onset, early signs and rate of disease progression vary greatly from person to person.Neuropsychiatric symptoms are an integral part of HD and have been considered the earliest markers of the disease, presenting sometimes more than 10 years before a formal diagnosis is done. Patients may experience dysphoria, mood swings, agitation, irritability, hostile outbursts, psychotic symptoms and deep bouts of depression with suicidal ideation. Personality change is reported in 48% of the cases, with the paranoid subtype being described as the most prevalent. the clinical case presented illustrates a case of HD which started with insidious psychiatric symptoms and an important personality change.Despite a wide number of medications being prescribed to help control emotional, movement and behaviour problems, there is still no treatment to stop or reverse the course of the disease. Furthermore, psychiatric manifestations are often amenable to treatment, and relief of these symptoms may provide significant improvement in patient's and caregivers quality of life.A greater awarness of psychiatric manifestations of HD is essential to an earlier diagnosis and an optimized therapeutic approach.

scholarly journals Robust genomic copy number predictor of pan cancer metastasis

2018 ◽  
Vol 9 (1-2) ◽  
pp. 66-77 ◽  
Author(s):  
Alexander Pearlman ◽  
Kinnari Upadhyay ◽  
Kim Cole ◽  
John Loke ◽  
Katherine Sun ◽  
...  
Keyword(s):  
Copy Number ◽  
Cancer Metastasis ◽  
Genomic Copy Number ◽  
Genomic Copy ◽  
Pan Cancer

P19: LDASS: a novel PCR-based amplification and labelling method for detection of genomic copy number changes using minute amounts of DNA

2005 ◽  
Vol 48 (4) ◽  
pp. 464-465
Author(s):  
Katleen De Preter ◽  
Frank Speleman ◽  
Stefaan Derveaux ◽  
Chris Roelant ◽  
Jo Vandesompele
Keyword(s):  
Copy Number ◽  
Genomic Copy Number ◽  
Genomic Copy ◽  
Copy Number Changes ◽  
Labelling Method
Sign in / Sign up

Export Citation Format

Share Document