Huntington Disease Lighthouse Families

For HD families ... by HD families
 

westphal

Posted by lesley 
westphal
March 03, 2001 04:08AM
Reading through some individual's experiences when they first heard about HD I came a cross a story where someone mentions that a relative had the westphal type of Hd.
I have never heard of this, or that there are different types of Hd.
Can anyone shed anylight on this for me?
Any information greatly appreciated
Thanks Lesley
Marsha
RE: westphal
March 08, 2001 04:56PM
This is a little complicated, but usually when people are referring to the Westphal type of HD they mean juvenile huntington's disease which is usually characterized by rigidity rather than chorea. However, there are also individuals with a late onset who have little or no chorea and experience the rigidity instead and these people are often said to have the Westphal variant as well.

In my non-expert opinion though, since it is now known that the CAG repeat numbers are very different in the two groups as are the number of neurons with intranuclear inclusions, it doesn't really make sense to categorize individuals with early and late onset as having the same 'variant' of HD even though some of the symptoms may be the same.
Sorry, only registered users may post in this forum.

Click here to login