Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat
Authors:
- 8 July 2005
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 20 (10) , 1380-1383
Abstract
We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108‐repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis. © 2005 Movement Disorder SocietyKeywords
This publication has 17 references indexed in Scilit:
- MR imaging and spectroscopy in juvenile Huntington diseasePediatric Radiology, 2004
- XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's diseaseClinical Genetics, 2003
- Juvenile onset Huntington's disease—clinical and research perspectivesMental Retardation and Developmental Disabilities Research Reviews, 2001
- Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington’s diseaseNeurology, 1999
- Dystonia in Huntington's disease: Prevalence and clinical characteristicsMovement Disorders, 1999
- Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parentHuman Molecular Genetics, 1993
- The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's diseaseNature Genetics, 1993
- Trinucleotide repeat length instability and age of onset in Huntington's diseaseNature Genetics, 1993
- Anticipation in Huntington's disease is inherited through the male line but may originate in the female.Journal of Medical Genetics, 1988
- A polymorphic DNA marker genetically linked to Huntington's diseaseNature, 1983