While the odds of any given conception having a gene mutation can be calculated, it is not possible to predict how severe symptoms will be or the exact age of onset. Hereditary Spastic Paraplegia (HSP) has significant variation in the degree of functional impairment (difficulty walking). The severity of symptoms may vary both between different genetic types of HSP and also within one family in which affected individuals not only have the same genetic type of HSP but also have the exact same HSP gene mutation.
Sometimes, but certainly not always, symptoms begin at earlier ages and may be more severer in subjects in succeeding generations. For example, symptoms may begin in the grandparent at age 35, in the child at age 15, and in the grandchild at age 5. This pattern, called “genetic anticipation” is certainly not the rule, however.
Often, “genetic anticipation” can not be distinguished from “random chance”. Since the age at which symptoms begins is variable, it is possible that just by random chance, members of a small family (such as only three affected subjects) could appear to have this pattern of “progressively younger/genetic anticipation” (when actually, it was just a random chance that the ages of symptom onset fell into this pattern).
Therefore, since a) genetic anticipation is not always seen (indeed does not appear in most families), and b) HSP symptom onset and severity are variable even within families, and c) most families are too small to make statistically significant predictions, we do not make predictions that HSP symptoms in subsequent generations will definitely be more severe or begin earlier.
The CFC or Combined Federal Cam-paign is a fundraising campaign the Federal Government offers its employ-ees to participate with each year. It begins Sept 1st and goes through Dec 15th. Federal employees are allowed to pick from over 200 registered nonpro-fits to contribute to. Many CFC fairs will be held at Federal facilities throughout the campaign. This allows employees to learn about the nonprofits and make their selections.
Please let friends and family members who are Federal employees know they can choose the Spastic Paraplegia Foun-dation to donate to. The SPF CFC num-ber is 12554. The following are exam-ples of Federal employees: law enforce-ment, mail personnel, VA or Veteran’s Administration employees, Medicare, Medicaid, military and many types of governmental jobs. If donors want to know more, please have them log on to
If you have any questions or sugges-tions, please contact Jim Sheorn at firstname.lastname@example.org or 615-479-7369.
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When Clinical Trials begin in 2017 it may require as many people as possible for the Clinical Trial to be effective. If you have HSP or PLS, please add your information to our data base so we can keep you informed. We are missing a lot people's email address, so if you just want to add your email address. just enter your name, address and email and we'll add it. That way, we will be able to reach you quickly at a lower cost. Your privacy is very important to us. We will never share any of your information with any individual or company without your permission.
93 cents of every dollar you donate goes into our mission of research and service. 4 cents goes to fundraising and 3 cents goes to data management and general expenses. Our all volunteer Scientific Advisory Board makes sure that we are supporting only the very best research projects on the planet. The Spastic Paraplegia Foundation is an all volunteer run foundation. Our highly skilled staff, Scientific Advisory Board, Medical Advisors, CPA, Attorney, President, Board Members - all of us are working hard every day probono because we strongly believe in this cause. We know a cure is right within reach and we ask you to please join us in reaching by making a tax deductible donation.