[Jacob-list] Congenital defects - Lysosomal disease

[Jacobflock at aol.com]

First, I should indeminy myself ... identify myself.  I am an aged man with 
Jacobs. 

I received a telephone call from Dr. John Edwards at Texxas A&M's vet school 
regarding any further status reports on congenital dfects in Jacobs, 
spefcifically any reports of lysomal disease, GM2 gangliosidosis.  

I wrote some iinformation on this lethal disaese in 2002, along with the 
annual listing of congenital defects in winter 2002, which was made available to 
the JSC and JSBA.  In fact, one of my earliest obervations of this problem was 
the JSBA meeting iin New York a years ago and there were two reported cases, 
one confirmed/one unconfirmed in 2003, the last year I managed to remain 
"on-line".

Columbia University has been working with Texas A&M to try to capture 
furtherl gene information on this disease (which is also a human disease) anmd both 
institutions are earnestly lookiing for infected lambs.  With new lambs hitting 
the ground it would be very helpful if Jacob breeders would identify possible 
infected lambs, monitor thier progress , and when it dies, contact Dr Edwards 
at 979-845-4608 and see if it is possible to have a necropsy and spinal 
tissue sample taken.

Most of the affected aheep have Turner 183K as a confirmed pedigree source, 
one had a Jacobs Ladder as a potential source (Dr. Womack, Txas A&M).  Thus, 
the ability to have a pedigree for the affected lamb would be extremely helpful 
so the genetic material can be compared.

If you need further informatrion, you might contact Joan Schnieber to see if 
she has a copy of the article from 2002 which describes the symptoms, etc.  It 
is lethal and many cases of OCD may in fact be GM1 or GM2.  If you observe 
Jacobs with splayed legs, weak pasterns, off gait, ataxia, etc., watch and 
observe until it becomes recumbant and, if it dies, please get involved ... for the 
sake of humans and the breed.

Thank you for you attention.

Fred Horak
St. Jude's Farm
1165 E. Lucas Rd.
Lucas, TX 75002




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