منابع مشابه
Diagnosis of Huntington disease.
BACKGROUND Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset. METHODS We reviewed the literature concerning the molecular diagnosis of HD. RESULTS The discovery of the genetic etiology of HD, a trinucleotide expansion mutation on chromosome 4p, has led to the development of increasingly reliable and valid diagno...
متن کاملMolecular diagnosis of Huntington disease in Brazilian patients.
Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. W...
متن کاملRefining the diagnosis of Huntington disease: the PREDICT-HD study
Participants with the gene expansion for Huntington disease (HD) but not yet diagnosed were evaluated annually. Unidimensional diagnosis (UD) was a motor diagnosis defined as a diagnostic confidence level (DCL) of 4 (unequivocal motor signs, ≥99% confidence) on the standardized motor exam of the Unified Huntington Disease Rating Scale (UHDRS). Multidimensional diagnosis (MD) was defined as answ...
متن کاملNon-disclosing preimplantation genetic diagnosis for Huntington disease.
OBJECTIVES Individuals at risk for Huntington disease face difficult decisions regarding their reproductive options. Most do not wish to pass on the gene for Huntington disease to their children, but may not be prepared themselves to undergo presymptomatic testing and learn their genetic status. For these reasons, many at-risk individuals with a family history of HD would choose a method of gen...
متن کاملTreatment of Huntington's disease Using Medieval Iranian Practice
Huntington's disease (HD) is thought to be due to genetically-programmed degeneration of neurons in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbances. It is along time since the disease started tormenting human beings, and to date, conventional medications have failed to slow down the progression of HD. ...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2003
ISSN: 0009-9147,1530-8561
DOI: 10.1373/49.10.1726