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.
We are excited that Giving Tuesday is coming up soon. It is a once a year event and is a perfect accent to the holiday season. Unbeknownst to the commercial world, the holiday season is not about who gets more for me, me, me. It is about that special feeling you get when you know you have really helped out someone you care about or love. It is knowing that the dollar you give today is going to blossom into a million dollars worth of relief from suffering for the people with HSP and PLS. Welcome to Giving Tuesday and we Thank You for your consideration.
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.
We operate out of the strength of our community, caring friends and sponsors. Your help makes a difference! Our volunteers give many hours of their time annually, and the opportunities to help are as varied as our helpers. Read more.