Document Detail

Case of the month: August 1997--a 13 year old girl with progressive movement disorder.
MedLine Citation:
PMID:  9458182     Owner:  NLM     Status:  MEDLINE    
A 13-year-old girl presented with a two year history of declining school performance, loss of coordination, and increased difficulty with sports. The family history was positive for Huntington's disease (HD). An MRI was suggestive for bilateral atrophy of the caudate. HD is autosomal dominant and the HD gene contains a polymorphic trinucleotide (CAG) repeat, which is expanded beyond 36 CAG repeats in HD. This patient had one normal-sized allele and one abnormally expanded allele with 68 CAG repeats, confirming the clinical diagnosis of HD. Juvenile onset of HD is uncommon, and is associated with unusually large CAG repeat numbers as was observed in this patient.
W T Hofgärtner; A R La Spada; J F Tait
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Brain pathology (Zurich, Switzerland)     Volume:  8     ISSN:  1015-6305     ISO Abbreviation:  Brain Pathol.     Publication Date:  1998 Jan 
Date Detail:
Created Date:  1998-03-10     Completed Date:  1998-03-10     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9216781     Medline TA:  Brain Pathol     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  237-8     Citation Subset:  IM    
University of Washington Medical Center, Department of Laboratory Medicine, Seattle 98195-7110, USA.
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MeSH Terms
Age of Onset
Diagnosis, Differential
Disease Progression
Huntington Disease / diagnosis*
Movement Disorders / diagnosis*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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