Saturday, 10 December 2011

Review of 2011

Its nearly Christmas again, and I thought I'd just have a quick review and summarise what I've discovered this year, and think about how different my symptoms are since the start of the year.

I've looked into the different variants of HSP and the prevalence, the different muscles and nerves in the legs, and identified several different websites which contain this and other useful information. I'm beginning to understand in "layman's terms" some of the medical terms about the condition that get used frequently. You can still give blood with HSP. There's some evidence that many people with HSP have depression.

With such a slowly progressing condition it is very difficult to spot things that are noticeably different. About this time last year I noted that I was having to actively ask my leg muscles to relax, and this has been pretty constant since this time (I noted this 6 months ago, too). I've continued to "trip over flat surfaces" which I've been doing for years. I'm fairly certain that my leg muscles become more tense when my emotions are high. I've now been doing Pilates for 2 years - this has certainly helped my awareness and I think its helped my flexibility.

Symptoms update: (legs muscle behaviour)
In the last couple of weeks, I've found that I've been laying in bed in the evenings and feeling that my legs are more stiff and heavy than they used to be. Of course I know they are the same weight, so that part is a perception thing. Is this the first part of my transition into having two weighty but useless limbs below my waist?

On the same theme, when I get to the morning, the first movements of my legs are stiffer than they used to be, although not consistently. I notice more effort required when swinging my leg over the saddle on my bike much more at the start of the day rather than on the way home, and I think I have to put more effort into making my legs move first thing. Perhaps I need to get my speedometer working again to use a measure of 'leg action'.

Just last week I slipped down a few of the stairs, which I don't normally do - so I make a note to myself to be more careful! I remember that I've felt on the verge of slipping a few times before, but this is my first proper slip.

Saturday, 3 December 2011

Other Bloggers

So, I'm having a couple of "glitches" with my browser this afternoon. I was having a hunt around to find out if there were any other bloggers covering HSP. I found a few and I tried to follow them. It doesn't seem to remember these 'follows' though. I'll try again another day, but in the mean time here are the links, so I can remember where these are:

There were also a number of other related blogs I found:

Thursday, 24 November 2011

A quick look at the 'wiring' of the nervous system


So, I've read many times that: "The major neuropathologic feature of HSP is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts. These include the crossed and uncrossed corticospinal tracts to the legs and  fasciculus gracilis.  The spinocerebellar tract is involved to a lesser extent". (from Wikipedia), and various references on many pages to Pyramidal Tracts.

I was wondering what/where these parts are, and what else is 'nearby' - i.e. some kind of wiring diagram for the nervous system. The BBC website had a nice diagram: and there's a much more complicated picture in the enormous post on Wikipedia

axonal degeneration: From one page: "In layman terms it is a type of degeneration of the peripheral nervous system." I cant find a simple description of this, but there any many complicated pages which seem to indicate that the nerve degenerates from within, and then the nerve casing deteriorates. Here's another page:

terminal portions of the longest descending and ascending tracts: The descending tracts are muscle control (i.e. signals travelling down from the brain) and the ascending tracts are perception and touch information (i.e. signals travelling up to the brain). The longest tracts are those that serve the lower part of the body, and the terminal portion of the spinal column is where the longest tracts stop and nerves descend further. This page shows what happens at different sections of the spine.

Then, given that the nerves 'pop out' at the section nearest the organ/muscles that they control, the longest tracts would appear to be those that are "Lumbar" - control of leg muscles and "Sacral" - bowel, bladder and sexual function There are descending and ascending versions of these.

corticospinal tracts: The lateral corticospinal tract carries messages from the brain to control the muscles. There are two tracts on opposite sides of the spine, and there are also a number of other tracts which control muscles (Extrapyramidal tracts and the anterior corticospinal tract). These are also known as the pyramidal tracts. I haven't really understood the difference between crossed and uncrossed.

 fasciculus gracilis:  The " fasciculus gracilis" appears to be part of the Dorsal column, alternatively known as the "Gracile fasciculus" and next to this the "Cuneate fasciculus". The dorsal column is in the centre of the spine and sends messages from the skin and positional information back up to the brain, and there are a number of other tracts which carry similar information up (spinocerebellar tracts,  spinothalamic tracts and Spino-olivary fibers).

This page is another goes some way to explain the function of each name mentioned:

I cant quite work out if HSP affects the spinal column itself or the nerves which connect to the column.

Monday, 7 November 2011

Symptoms Update - Emotional effects

Quite an emotional weekend has just happened. My sister got married, and she asked me to give her away as our dad died in 2005. I also made a speech. Very happy, but also very emotional.

The relevance of this? Well, I found that at the more emotional parts of the day my leg muscles became very tense, with all of them tightening together and making my legs shake. I had to bend my knees to stop myself turning into a bouncing ball, both in the church and when making my speech. Who'd have thought that skiing lessons would be so useful?

My sister had recently said that our mums legs have done similar when she was emotional, so I'm minded to mention this here as a symptom, which then opens another avenue for future investigation, and I might add an emotional summary as a commentary on my filming.

Saturday, 22 October 2011

FSP Research

Edit 26th November: I realised that this post says nothing really, but that the links are very interesting, so I've added some summary info for each link.

I had thought for a while about looking up the current research into HSP/FSP, primarily to see if I could find any stories/studies involving stem cells. It would seem that the Australian HSP group are funding such a study - details of which are here:

Stem Cell Pilot Study 2009/10

What is it?

The National Centre for Adult Stem Cell Research (NCASCR) and the HSP Research Foundation (HSPRF) have collaborated to implement a Pilot Study aimed at:
  • Growing and maintaining olfactory stem cell lines
  • Differentiating them to other nerve cells and
  • Defining biological differences in SPG4 cell lines from normal cell lines.
This can lead to the definition of drug targets, that is, compounds that may promote normal cell function instead of impaired cell function caused by the particular mutation.

I also found an earlier study which had looked at them here:

HSP Promotion Award

Together with the German Neurolgy Organisation (DGN) the award was donated to young researchers, working in the field of HSP in the broadest sense. Since 2008/2009 caused by our 10 anniversary we changed this award into "advanced scholarship"

Reconstitution of neural functions in the spinal cord through neural stem cells expressing the neural cell adhesion molecule L1

Neural stem cells have recently been shown to be potent and versatile mediators of regeneration in the lesioned central nervous system. They can integrate into the tissue, differentiate into neuronal cells, and grow axons leading to the formation of new synapses and partial restoration of lost functions. The neural cell adhesion molecule L1 has been shown to be a good neurite outgrowth promoter. L1 is upregulated by neurons and Schwann cells after a peripheral nerve lesion and has been implicated in axon regeneration. We propose to test the effect of L1 expressed by genetically manipulated neural stem cells on neuronal differentiation, survival and neurite outgrowth in a mammalian model of spinal cord regeneration

I also found another couple of sites giving other research studies into HSP, and have included them here for completeness.

SPG4 Genetic Research Study

Researchers at Baylor College of Medicine are enrolling subjects in a genetic research study of type 4 autosomal dominant spastic paraplegia (SPG4). They are studying the way that different types of gene mutations lead to differences in clinical symptoms among SPG4 patients.
If you or your family member has been diagnosed with a "deletion" or "duplication" mutation in the SPG4 disease gene (this gene is also called SPAST), you will likely qualify to participate.

HSP Genetic Study

There is a HSP genetic study currently underway at the University of Miami. If you are interested in participating or finding out more information, please contact Fiorella
The Miami Institute for Human Genomics Genetic is looking for INDIVIDUALS and their FAMILIES who would like to participate in Hereditary Spastic Paraplegia (HSP) research. The purpose of the research study is to identify genetic factors that contribute to Hereditary Spastic Paraplegia (HSP).

Dr JamilĂ© HAZAN's team has demonstrated that in the zebrafish atlastin, the protein encoded by the SPG3Agene, controls the architecture of spinal motor neurons and thus the mobility of the larvae during embryonic development of this small fish.

Sunday, 9 October 2011

Pins and needles

Looking back over my previous posts I talked a while ago about pins and needles (Feb 11, and thought I'd have a look to see what else I could find.

Pins and needles is really called paraesthesia, although it would appear also to be spelt paresthesia on some web pages (wikipedia indicates that the former is the British English spelling)

There are various website which indicate that paraesthesia is a possible feature in uncomplicated/pure HSP - for example But, I don't seem to be able to find any referenced papers/studies describing this. Some sites describe it as affecting "below the knee", others in the "lower legs" whereas others just list the term generally without indicating where it might occur.

My main reason, however, for coming back to this issue was that I don't think I've been noticing the pins and needles as much in the last few months and wanted to note that issue here. It doesn't take much reading to find out that pins and needles can be caused by dehydration, lack of sleep, stress, etc. etc. so, perhaps it was one of those (or indeed something else) which caused that then and not really since.

Thursday, 22 September 2011


** Update: summary of my depression posts here: ***

In my recent browsing around the internet I was quite interested to find this paper: Basically it says (from the abstract only) that many people with HSP have mild depression, and that the depression is correlated with mobility. I'm not sure why I haven't picked up on this aspect so far?

In my understanding of whats (potentially) coming up for me, and in reading of various pages by others with the condition I am not surprised. Once you realise whats coming, you know your life is going to be different and that your mobility is going to be reduced. Because the condition is gradual this gives plenty of time for thinking about what might happen and how things might be different and there don't seem to be too many "at leasts.....".

All this thinking can lead to a more bleak outlook on the future, which I take to be another way of expressing depression. I can see that this may be much stronger for those who place a high value on activities which are mobile (sports, outdoor life, pets, children etc.) than for those who place a high value on potentially less mobile activities (art/literature, computing, films/TV, communicating etc.).

Wearing my fact finding hat I'm interested to find out about the Beck Depression Inventory (which is used in the study) and am interested to learn more details than wikipedia has to offer. My geek hat suggests that the level of depression would be correlated with the inverse of mobility - i.e. less mobile=more depressed, but I don't know how they were measuring mobility. Interested to see a copy of the full paper.

Monday, 12 September 2011

Symptoms Update (Riding my bike)

OK, so another brief post in the never ending list of things which may or may not be relevant.

I cycle to work. Its 6-7miles each way (10-11km), and I can do this in about half an hour. In the last few weeks I've been noticing that my feet gradually move forwards on my pedals as I continue my journey. I wonder if my quads are getting more tight, preventing my knee from flexing quite as far on its way back.

I cant work out if getting some SPDs would be worth a try, or if thats going to turn out to be more trouble than its worth.

Tuesday, 16 August 2011

HSP Prevalence

OK, so, in my internet trawl so far I have found several references to the prevalence of HSP in the general population. Some of these prevalence's have been referenced to studies and papers which provide further details. I've managed to find downloads for four different papers which give prevalence for HSP, and these papers all contain summaries to previous prevalence papers. This post combines all these papers together and tries to estimate the prevalence of HSP. I have found some further papers which have not been referenced in any of these four studies, but I'm going to leave those for inclusion in a further post.

So, the four papers I found in full are:
Erichsen et al, Norway, 2009:
Monagle et al, Ireland, 2002:
Coutinho et al, Portugal, 1999:
Polp et al, Spain 1991: (this sometimes asked for payment, but other times didn't)

From this, I get an overall list of the following studies into the prevalence of HSP:

Location1st AuthorYearCasesPopulationPrevalence per 100,000
Denmark (Zealand)Werderlin19752311790002
W. NorwaySkre19803172500012.1
Italy (Reggio Emilia)Lucci198244123241
Italy (Torino)Brignolio19863123279961.3
Spain (Cantabria)Polo1991495100009.6
Italy (Molise)Filla199293352112.7
Italy (Valle d'Aosta)Leone199551152704.3

This shows some interesting things to me. Generally these studies all relate to separate geographic areas, apart from there being two Norway and two Portugal, so, I will exclude the earlier and smaller studies from each of these countries to avoid double counting.

The main outliers in the data sets are the studies from Japan and Guam, with the Japan study having by far the largest overall population. On the whole the other studies give broadly the same results, and (apart from Libya) relate to European populations. This gives opportunities for combining data sets:

All studies excluding Skre 1980 and Silva 19976171402926690.44
All studies excluding Skre 1980 and Silva 1997 and Japan508172926692.94
All European studies excluding Skre 1980 and Silva 1997495169857552.91

Some while ago I read Guns Germs and Steel ( - a very interesting read) and this leads me to think that conditions would have different prevalence's in different parts of the world. So, I'll concentrate my analysis on the area where the main proportion of studies have been done - Europe. I would suggest that the overall prevalence of HSP in the European population is about 3 per 100,000 population, but noting that several of the papers indicated they thought their studies presented an underestimate.

Perhaps with further analysis I'll be able to draw out some further thoughts...

I was able to find an abstract for all of the papers listed except the Lucci paper of 1982, which appears to be strangely elusive. I would welcome contact from anyone who has a full copy of these papers (or links to other locations) to add to my collection! For completeness, links to abstracts for the other papers follow:

Guam, Chen, 1968:
Denmark, Werderlin, 1975:
Norway, Skre, 1980:
Libya, Sridharen, 1985:
Italy, Brignolio, 1986:
Japan, Hirayama, 1989:
Italy, Filla, 1992:
Italy, Leone, 1995:
Portugal, Silva, 1997:

The missing reference:
Italy, Lucci, 1982: Lucci B, Motti L, Guidetti D, Zucco R. Indagine epidemiologica descritiva delle eredoatassie nella provincia di Reggio-Emilia. In: Atti del III Convegno Nazionale di Neuroepidemiologia. 1982;p. 169–174

Tuesday, 26 July 2011

Symptons Update (walking technique 2) and new filming project.

I'm now finding that I'm having to spend more time concentrating on my walking style to avoid my feet tripping up. In the last couple of weeks whenever I'm walking I'm thinking "heel first" and trying to put my heel down before my toes.

I cant work out if I'm changing the way I bend my knee or changing the amount I lift my thigh on each step.

To see if I'm really changing I've also started filming my walking technique with the objective to record a "relaxed" and a "proper" walk every couple of weeks or so. Of course, its very difficult to "relax" properly when you know you are filming yourself, so we'll see how it pans out over the coming months.

Saturday, 16 July 2011

Trawl of SPG Variants

I have completed a bit of a trawl of the internet to find out the difference between the types of HSP/FSP. I've summarised this in the following table. The data is predominantly from these pages:
And various pages from this site:

Apologies if the table appears a little cumbersome, I used excel to save as a web-page, and then had to mess about with that a little further for it to work here in blogger-land.

I've only included data where I can find it, and I've tried not to re-interpret any data. There have been a couple of inconsistenceis between the sites I got the data from. Interestingly, there appear to be two different claims for SPG40. There are some other spastic paraplegias listed on some sites without SPG numbers. I've not include those here.

SPGpure/ complexinheritanceonsetchromosonal locusnumber mutationstypebladderbowelspeedwheelchairEpidemiology
2complexx-linked recessivechildhood-adolescenceXq22Variedyesslow
3Amost pureautosomnal dominant~614q11-q21>40Missencesome1/3slowrare
4most pureautosomnal dominant~292p22.3>250Varied34%more rapid late onset17%
5Apureautosomnal recessive1-208q12-q13>17Missense or Nonsense66%someTunisian, American,
Australian & British families
5Bpureautosomnal recessiveTunisian family
6pureautosomnal dominant~2215q11.1Missence10%Irish/Iraqui
7most pureautosomnal recessive25-4216q24.326Varied50%rapid or slowEuropean, Moroccan &
Turkish families
8pureautosomnal dominant~378q24.13Missence50%6 families
9complexautosomnal dominantchildhood-adulthood10q23.3-q24.1Italian/British
10bothautosomnal dominantusuallt infancy/childhood12q13Missence/Other62%moderate23%
11most pureautosomnal recessiveinfancy-adolescene15q21.1>70Nonsense, Deletion &
most 1-2 decades after onsetNorth America, Europe,
Japan, Turkey
12pureautosomnal dominant~719q1333%slowwithin 4 yearsWelsh/Italian
13pureautosomnal dominant~392q33.1Missence, Deletions14%2 families
14complexautosomnal recessive303q27-q28slowItalian family
15complexautosomnal recessive13-2314q23.3-q24.2Variedyesyes3-21 years
16bothx-linked recessivechildhoodxq11.2Insertionyesyes1 family
17complexautosomnal dominantadolescence-early adulthood11q13Missence18%slow>10 families
18complexautosomnal recessivechildhood8p12-p11.212 Omani families
19pureautosomnal dominant36-559q100%slowsomeItalian family
20complexautosomnal recessivechildhood13q12.3Deletionsomesomeslow3rd-4th decadeKuwait & Old Order Amish
21complexautosomnal recessive2nd and 3rd decade15q21-q22InsertionslowOhio
22complexx-linked recessiveXq21US families
23complexautosomnal recessivechildhood1q24-q32Arabian
24complexautosomnal recessivechildhood13q14NoSaudi
Arabian family
25complexautosomnal recessive30-466q23-q24Italian family
26complexautosomnal recessive06-Nov12p11.1-q14slowKuwaiti family
27bothautosomnal recessive25-4510q22.1-q24.1yesslowsomeFrench-Canadian family
28pureautosomnal recessive6-1514q21.3-q22.3Moroccan
29complexautosomnal dominant~151p31.1-21.130%60%Scottish family
30complexautosomnal recessive12-212q37.350%slowAlgerian origin family
31bothautosomnal dominantchildhood-young adulthood2p11.2Variedsome by 30-35>25 families mostly
32complexautosomnal recessive6-714q12-q21nonevery slowPotuguese family
33pureautosomnal dominantadulthood10q24.2MissenceslowyesGerman family
34purex-linked recessivelate childhoodXq25-q25nonenone3-4 decadesBrazilian family
35complexautosomnal recessive4-1116q21-q23.1yesOmani and Pakistani families
36complexautosomnal dominant24-3012q23-q24yesGerman family
37pureautosomnal dominant328p21.1-q13.338%French family
38autosomnal dominant174p16-p15 Italian family
39complexautosomnal recessive<719p13.3Missence, Frameshift
yesslowAshkenazi-Jewish &
Northern European (German) families
40pureautosomnal dominant3q24-q26Chinese families
40autosomnal dominantCaucasian family
41pureautosomnal dominant1711p14.1-p11.2someslowChinese family
42autosomnal dominantfirst two decades3q24-q26MissenceNoneChinese family
43autosomnal recessive7-1219p13.11-q12noneslowMali family
44complexautosomnal recessive1st/2nd decades1q41-q42somesomeItalian family
45complexautosomnal recessive<110q24.3-q25.1Turkish famliy
46complexautosomnal recessive2-79p21.2-q21.1250%slowTunisian
47complexautosomnal recessive1p13.2-1p12Arabian family
48autosomnal recessive49-507p22.1VariedYesslowFrench family