November 1997 Newsletter


I have been greatly encouraged in recent weeks by contributions made by members. These contributions have come in the form of medical information, extracts from the Internet, and in the case of Alan Jenkins and David Britton, a whacking cheque for £180 following a highly successful raffle they organised in their home area. Our thanks to you all.

Alan and David are the most recent in a sequence of members who have taken it upon themselves to directly fund-raise on behalf of the group. At our July meeting the group discussed what these donations could be best used for. Rather than just absorbing the donations into our current account, it was felt that some more fitting or lasting uses could be found. Suggestions to Sippy Azizollah, please, our fund-raising co-ordinator.

Sippy is also looking into the possibility of producing an FSP Christmas Card.... for 1998. Not a charity card as such, but a card that would heighten FSP awareness. If you, or a member of your family, would like to submit a design for consideration, please send your creation to Sippy.

Included with this Newsletter is a summary sheet detailing professional journal articles on FSP which the group holds. Copies of these, and back issues of the Newsletter, are available from the Secretary - details on the sheet. Your attention is drawn to a new article by Doctor Evan Reid entitled ‘Pure Hereditary Spastic Paraplegia’.

The Wellcome Research Training Fellowship recently awarded Dr Reid’s research group at Addenbrooke’s Hospital a grant of £153,000. The grant will enable Dr Reid to work full-time on research into the genetics of HSP for three years.

As mentioned above, also included is a bang-up-to-date copy of our membership list. One of the main aims of our group is to put members in touch with one another. Please check that your individual entry is accurate. If you would like to make contact with a member whose condition resembles your own, the committee can probably point you in the right direction.

FSP - An American Perspective

In the absence of any ‘hot news’, this issue of the Group Newsletter carries an extract from an American reference which reviews the FSP condition. The source is NORD - the National Organisation for Rare Disorders - an umbrella group covering all the orphan conditions. Some of the information may surprise you, as may the directness of its presentation; nevertheless I present it verbatim as the American angle is new. The authors cite several standard texts as their references, including Anita Harding’s work.

Hereditary Spastic Paraplegia is an inherited neurological disorder characterised by slow progressive degeneration of the corticospinal and other nerve cells in the spinal cord. Abnormal narrowness of the passage inside the vertebral canal can cause compression of the spinal cord and is one possible cause of this condition. The severity of symptoms depends upon how much the nerves are compressed and damaged. Occasionally associated with other conditions, symptoms are usually noticed during early childhood although they can begin at any age. Weakness, stiffness and muscle spasms first develop in the legs and may later spread to other parts of the body.

Initial symptoms of HSP usually include weakness, muscle spasms, and stiffness of the legs. Leg muscles may contract or a heel deformity may occur making walking difficult. Speech disturbances can also appear. Difficulty swallowing, exaggeration of tendon reflexes and general muscle weakening may develop as this order progresses. Symptoms can range from mild to severe depending on the mode of inheritance (dominant or recessive genes), and the degree to which the nerves are compressed or damaged. HSP can be associated with other conditions such as mental retardation, deafness, premature puberty, congenital deformities of the foot, tremors, dwarfism or delayed speech development.

Causes. In general, the abnormally narrow vertebral canal in the spinal column of people with HSP causes various degrees of nerve compression which leads to muscle weakness and/or paralysis. The disorder may be inherited through either a dominant or recessive transmission. Depending upon which mode of transmission has caused the disorder, several types of HSP have been identified. These subtypes can be differentiated by associated symptoms.

Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

In recessive disorders, the condition does not appear unless a person inherits the same deffective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25%. 50% of their children will be carriers, but healthy as described above. 25% of their children will receive both normal genes, one from each parent, and will be genetically normal.

HSP is usually an inherited neurological disorder. However, a study has recently been concluded in a family in Paraguay, that shows a definite transmission of Human HTLV-1 virus (known to cause Leukaemia and Lymphoma) through breast milk that results in a condition Spastic Paraplegia in some of the family members. This cause of Spastic Paraplegia was shown to have no genetic transmission but to have passed from mother to child through nursing. Similar Spastic Paraparesis types associated with HTLV-1 virus transmission have been recognised in persons in Japan.

The Internet

The FSP Group is looking for someone to surf the Internet on our behalf. There is a known web-site for FSP sufferers in the USA. Access - Also several of the large teaching hospitals (e.g. Mass. General) and universities maintain pages for orphan conditions. If any member would like to undertake regular surfs, do please get in touch.

Genetic Interest Group

GIG (an umbrella Group covering all genetic conditions) is holding a one day conference on Tuesday 2 December in London to discuss ‘Key Policy Issues in Human Genetics’. The conference will be addressed by medical professionals and the Minister for Public Health, Tessa Jowell MP. Any member interested in attending as the FSP Group’s accredited representative please get in touch with the secretary.

Members may be aware that there are key proposals on Gene Patenting on the table at the European Parliament right now. The implications for research into conditions like FSP are absolutely fundamental, and much work is going on behind the scenes to try and ensure that the final version of the new law on gene patenting does not have any adverse effects on medical research.

Medical Glossary, A (Very) Occasional Series...

Chromosomes. Microscopically dark staining bodies which carry the nuclear DNA, and are the vehicles which carry the DNA during reproduction. Each chromosome contains a very long double strand of DNA, bearing thousands of genes in a linear array. Chromosomes are present in pairs in body cells, but only one of each is present in germ line cells. In humans there are normally 46 chromosomes; 44 are arranged and numbered in order of decreasing size, as 22 matching pairs (autosomes). The two remaining chromosomes are sex chromosomes, in females XX and in males XY.

DNA. (Deoxyribonucleic Acid) The chemical substance in chromosomes and genes in which genetic information is coded.

Gene. A part of the DNA molecule of a chromosome which directs the synthesis of a protein.

Germ Line Cells. The cells of the body which transmit genetic information to the next generation. They are the sperm in males and the ova in females.

Protein. These are essential constituents of the body. They form the structural materials of muscles tissues, organs and are the regulators of function, as enzymes and some hormones. Proteins are coded for by DNA.

And Finally....

STOP PRESS !! Sippy Azizollah and the regulars of ‘The Five Bells’ in East Finchley have raised another £100 for the Group. Our thanks once again to Sippy and Landlord Pat for their continuing support.

Comments and constructive criticism, please, to any member of the Committee: TG, MF, SP, or SA.