February 2001 Newsletter

Have you broken all your New Year resolutions yet? - I was off to a head start by not making any; a ploy that seems to have worked well in previous years! I know that members have had conflicting results in their endeavors to get referrals to experienced neurologists. If you are having difficulties please make the resolution to see your GP and insist on your right to an appropriate referral.

At the bottom of the enclosed localised membership lists (see opposite) you will see that a few of us have put our names down as area coordinators. We are keen to encourage other members to take on this role which need not be an onerous task. It might include, for example, arranging the occasional local social event where group funds can be utilised to cover any associated expenses. A brief report on the recent event held in Surrey is contained inside.

Thanks to those who have submitted articles to go into the Newsletter; please keep them coming in.

BBC

The BBC are commissioning a program on support groups in the UK and we have been approached to assess if we might fit into their requirements. If we are successful, this will clearly be a boost to the UK groups exposure and the committee would encourage members to provide input if at all possible.

The BBC are focusing on three issues in particular:

  • People who may be contemplating taking a genetic test
  • Women who have just become pregnant and may be anxious about the future
  • People who are embarking on new forms of treatment

The BBC are keen to talk with any members who might fall into these broad groups or have an interesting FSP related story to tell. If you feel that you might be able to help, please contact David Pearce who can arrange the necessary contacts.

FSP Research Update

Dr Phil Wilkinson Reports

I am indebted to Phil, who is undertaking a three-year FSP research programme, for the following article. As he says, with my emphasis, lets work together to Break the Code.

The past few years have seen major advances in the fields of molecular biology and genetics. The human genome project is near completion and our understanding of genetic disease is increasing at a rapid pace. For FSP, 14 potential gene sites have now been identified on different chromosomes and four actual genes have been characterised in detail.

Doctors usually classify FSP in terms of the pattern of neurological problems in affected individuals and the way in which the condition is passed on through the generations. The term "pure" FSP generally implies that the problems are confined to the legs with stiffness, weakness and subsequent difficulty in walking. People who also have other wide-ranging neurological problems such as epilepsy, visual problems or memory impairment are generally described as having "complicated" FSP. Such classification can be helpful when searching for different genetic abnormalities between families.

The way in which the disease is inherited within a family depends on the number of abnormal genes required to cause the disease. People have two copies of every gene. One is inherited from the mother and one from the father. If the condition is produced when only one gene (from either parent) is abnormal this is referred to as being dominant. Dominant FSP usually affects consecutive generations within a family. If both copies of the gene (one from each parent) have to be abnormal to cause problems the condition is referred to as being recessive. Recessive FSP usually affects only one generation within a family. The only exception to this is when the gene is located on the Xchromosome which is one of the sex determining chromosomes. Girls have two copies of this chromosome and boys only one. Therefore abnormal genes on the Xchromosome tend to only affect males with females being asymptomatic carriers. This form of FSP may also pass down the generations within a family.

The first genes to be identified were those responsible for the X-linked form of FSP. This is the rarest from of FSP but currently the best understood. In 1995 a defect in the L1 cell adhesion molecule gene was the first genetic abnormality to be discovered in a family with a complicated form of FSP. This gene produces a protein known to be important in the development of the nervous system from very early in life. Subsequently, abnormalities in a second X-chromosome gene that produces the proteolipid protein were identified in families with both pure and complicated FSP. This protein plays an important role in producing and maintaining the myelin coating around nerve fibres. Myelin is a fatty substance which surrounds nerves and is essential for the efficient conduction of electrical signals along nerves. Problems with a loss of myelin around nerves also occurs in a variety of other neurological diseases including multiple sclerosis.

Of greater significance, however, has been the discovery during the past two years of the spastin and paraplegin genes. The paraplegin gene was discovered in 1998 by a group of researchers in Italy. It is found on chromosome 16 and produces a protein important in energy production within cells. Abnormalities in this gene can cause pure or complicated FSP, which is inherited in a recessive pattern. It is thought that nerve cells with their high energy requirements are particularly susceptible to damage when the paraplegin gene is abnormal. A problem with energy production in cells has been confirmed on muscle biopsies of affected individuals with abnormal paraplegin genes.

Last year French researchers identified the spastin gene on chromosome 2. Defects in this gene account for 40-50% of all cases of dominantly inherited FSP. The precise function of the protein produced by the spastin gene is still not fully understood although it does share some similarities with the paraplegin protein. There are, however, many differences between the two proteins and no evidence of problems with energy production have been found in individuals with abnormal spastin genes. So far over 30 different abnormalities have been identified in the spastin gene which can cause FSP.

Clearly, as we learn more about the different genetic abnormalities which cause the different types of FSP this will allow more accurate tests to diagnose the condition. More importantly, as we understand more about how the proteins produced by the various genes function in cells of the nervous system it will help to explain how when this process goes wrong it leads to FSP. The next step from this will be developing treatments aimed at correcting these underlying abnormalities in order to slow down or hopefully prevent the disease. The continued support of people with FSP and their families with the various research work currently taking place around the world is in valuable in attempting to achieve these goals.

Anyone wishing to know more about the research work currently being undertaken in London or elsewhere in the country can contact Dr. Wilkinson at the Royal Free & University College Medical School, Royal Free Campus, Department of Clinical Neurosciences, Rowland Hill Street, London NW3 2PF. Tel. 020 7794 0500 ext 6779. E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it..

Surrey Meeting

Ian Smith reports

The above photo was taken at the inaugural meeting of the Home Counties local group on a cold, damp, Saturday afternoon in early December. Jane Bennett and her family, who contacted the local members and found suitable accommodation with easy access, arranged the meeting. It was a very successful social event with about 25 attendees each of whom brought along food, topped off with Jane's homemade Christmas cake. Jane has indicated that, members willing, another meeting might be arranged in the spring and we would hope that the success of the day would be an encouragement to other groups to arrange similar events.

Baclofen Usage

Michael Wyatt writes

The following article describes Michael's experience of taking Baclofen. It is important to note that people will have differing experiences of the various drugs available to treat FSP and that any group member contemplating starting or stopping any drug regime should only do so in consultation with their specialist.

"I began taking Baclofen in July in an attempt to relax the Achilles tendons to possibly enable me to walk with my heels touching the ground. I began on 20 mg a day and over the next two weeks increased the dosage to 40 mg a day. On the advice of my neurologist I took the dosage at night before I went to bed as I had previously had problems with sleepiness through the day when taking Baclofen (I had tried it years ago when I was about 8 or 9). I was determined to give Baclofen a good trial and took it religiously, waiting for any effects. The first effects I felt were sleepiness and also disturbed sleep at night. As I increased the dose I did notice a loose feeling in my legs but also in other parts of my body. I swim and lift weights regularly and found I couldn't do as many repeats as usual. I felt a lack of dynamic strength and that the loose feeling was affecting my balance. By the end of September I had given up the Baclofen, defeated by sleepless nights and feelings of tiredness and being unable to concentrate on my studies during the day. I remembered being told that Baclofen worked by weakening the ends of the tendons and muscles so that they stretch more easily. I have gone back to stretching my tendons by my own exercises and  was pleased to read the physiotherapy advice in  the latest FSP newsletter."

 I am grateful to Michael, one of our younger members, for describing his experiences and would be pleased to hear from other members who might be willing to describe their experiences of Baclofen (including pumps) or any of the other drug regimes currently available to treat FSP.

For Your Diaries

Keep your diary free for the 22nd September as this is the date scheduled for the 2001 annual meeting. In addition to planning our guest speakers, we are also considering a new venue in Milton Keynes. More information will be in the next newsletter.

It's a Dogs Life!

Labrador Frodo reports

At the end of last year Stephanie Pengelly, who runs the FSP Help Line, maintained her high profile press coverage with an article in the "A Life in the Day" section of the Sunday Times magazine. Interestingly the article was focused as an interview with her canine partner, Frodo the Labrador.

It was a very clever article, which highlighted how Frodo helps Steph in a range of daily activities. For those who missed it, here is the closing paragraph.

"Dogs pick people, not the other way round. I picked Steph and I consider myself extremely lucky. I won't perform for others. I hate it when humans with all their bits in working order expect me to put on some kind of show. Get this, Frodo, do that. Well, sorry, but I'm not a circus act. I'll have a scratch, a yawn and turn on my dumb canine act. When I'm off duty, I'm Mummy's Froddle Woddles and I want a serious amount of fuss. After all I'm just a dog."