Depression

** Update: summary of my depression posts here: http://hspjourney.blogspot.co.uk/2017/10/summary-of-depression-posts.html ***

In my recent browsing around the internet I was quite interested to find this paper: http://cre.sagepub.com/content/23/9/857 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. http://en.wikipedia.org/wiki/Beck_Depression_Inventory. 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.

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.

Community Pages

I was browsing facebook the other day, and found a couple of HSP community pages, and this led me on to have a bit of a trawl around to find out if were are any other pages around. This gives another set of links like the support groups, but perhaps a bit more up-to-date and personal? I would welcome any links to other community pages.

Facebook:
http://www.facebook.com/pages/Hereditary-Spastic-Paraplegia-HSP/121279057942990
http://www.facebook.com/pages/HSP-Australia/199236076788479
http://www.facebook.com/pages/HSP-Research-Foundation/137857172915152
http://www.facebook.com/pages/Familial-spastic-paraparesis-FSP/210236818990197
http://www.facebook.com/pages/Hereditary-spastic-paraplegia/132525713451982

Medical/patient community pages:
http://www.rarediseasecommunities.org/en/community/hereditary-spastic-paraplegia/article/hsp-article
http://freyerse.org/
http://www.wemove.org/forum/ubbthreads.php/forums/8/1/Hereditary_Spastic_Paraplegia
http://www.patientslikeme.com/conditions/493-hereditary-spastic-paraplegia

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: http://brain.oxfordjournals.org/content/132/6/1577.full.pdf
Monagle et al, Ireland, 2002: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1737699/pdf/v072p00043.pdf
Coutinho et al, Portugal, 1999: http://archneur.ama-assn.org/cgi/content/full/56/8/943
Polp et al, Spain 1991: http://brain.oxfordjournals.org/content/114/2/855.abstract?ijkey=c0472af598cf8de455d3b4f7839277c2f74d87be&keytype2=tf_ipsecsha (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:

Location	1st Author	Year	Cases	Population	Prevalence per 100,000
Guam	Chen	1968	7	37975	18.4
Denmark (Zealand)	Werderlin	1975	23	1179000	2
W. Norway	Skre	1980	31	725000	12.1
Italy (Reggio Emilia)	Lucci	1982	4	412324	1
Libya	Sridharan	1985	11	519000	2.1
Italy (Torino)	Brignolio	1986	31	2327996	1.3
Japan	Hirayama	1989	109	123000000	0.17
Spain (Cantabria)	Polo	1991	49	510000	9.6
Italy (Molise)	Filla	1992	9	335211	2.7
Italy (Valle d'Aosta)	Leone	1995	5	115270	4.3
Portugal	Silva	1997	5	250061	2
Portugal	Coutinho	1999	106	3786000	2.8
Ireland	Monagle	2002	69	5436000	1.27
Norway	Erichsen	2009	194	2633893	7.4

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:

Analysis	Cases	Population	Prevalence
All studies excluding Skre 1980 and Silva 1997	617	140292669	0.44
All studies excluding Skre 1980 and Silva 1997 and Japan	508	17292669	2.94
All European studies excluding Skre 1980 and Silva 1997	495	16985755	2.91

Some while ago I read Guns Germs and Steel (http://www.amazon.co.uk/Guns-Germs-Steel-history-everybody/dp/0099302780 - 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: http://archneur.ama-assn.org/cgi/content/summary/19/6/573
Denmark, Werderlin, 1975: http://onlinelibrary.wiley.com/doi/10.1111/ane.1986.73.issue-S106/issuetoc
Norway, Skre, 1980: http://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.1974.tb00647.x/abstract
Libya, Sridharen, 1985: http://brain.oxfordjournals.org/content/108/4/831.abstract
Italy, Brignolio, 1986: http://www.springerlink.com/content/39x4u4351261153v/
Japan, Hirayama, 1989: http://www.ncbi.nlm.nih.gov/pubmed/8059595
Italy, Filla, 1992: http://www.ncbi.nlm.nih.gov/pubmed/1512613
Italy, Leone, 1995: http://www.ncbi.nlm.nih.gov/pubmed/7793232
Portugal, Silva, 1997: http://www.jclinepi.com/article/S0895-4356(97)00202-3/abstract

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

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.

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:
http://www.ncbi.nlm.nih.gov/books/NBK1509/
http://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia
http://neuromuscular.wustl.edu/spinal/fsp.html
And various pages from this site: http://omim.org/entry/613206

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.

SPG	pure/ complex	inheritance	onset	chromosonal locus	number mutations	type	bladder	bowel	speed	wheelchair	Epidemiology
1	complex	x-linked recessive	congenital	xq28		Varied
2	complex	x-linked recessive	childhood-adolescence	Xq22		Varied	yes		slow
3A	most pure	autosomnal dominant	~6	14q11-q21	>40	Missence	some	1/3	slow	rare
4	most pure	autosomnal dominant	~29	2p22.3	>250	Varied	34%		more rapid late onset	17%
5A	pure	autosomnal recessive	1-20	8q12-q13	>17	Missense or Nonsense	66%			some	Tunisian, American, Australian & British families
5B	pure	autosomnal recessive									Tunisian family
6	pure	autosomnal dominant	~22	15q11.1		Missence	10%				Irish/Iraqui
7	most pure	autosomnal recessive	25-42	16q24.3	26	Varied	50%		rapid or slow		European, Moroccan & Turkish families
8	pure	autosomnal dominant	~37	8q24.13		Missence	50%				6 families
9	complex	autosomnal dominant	childhood-adulthood	10q23.3-q24.1							Italian/British
10	both	autosomnal dominant	usuallt infancy/childhood	12q13		Missence/Other	62%		moderate	23%
11	most pure	autosomnal recessive	infancy-adolescene	15q21.1	>70	Nonsense, Deletion & Insertion				most 1-2 decades after onset	North America, Europe, Japan, Turkey
12	pure	autosomnal dominant	~7	19q13			33%		slow	within 4 years	Welsh/Italian
13	pure	autosomnal dominant	~39	2q33.1		Missence, Deletions	14%				2 families
14	complex	autosomnal recessive	30	3q27-q28					slow		Italian family
15	complex	autosomnal recessive	13-23	14q23.3-q24.2		Varied	yes	yes		3-21 years
16	both	x-linked recessive	childhood	xq11.2		Insertion	yes	yes			1 family
17	complex	autosomnal dominant	adolescence-early adulthood	11q13		Missence	18%		slow		>10 families
18	complex	autosomnal recessive	childhood	8p12-p11.21							2 Omani families
19	pure	autosomnal dominant	36-55	9q			100%		slow	some	Italian family
20	complex	autosomnal recessive	childhood	13q12.3		Deletion	some	some	slow	3rd-4th decade	Kuwait & Old Order Amish families
21	complex	autosomnal recessive	2nd and 3rd decade	15q21-q22		Insertion			slow		Ohio Amish
22	complex	x-linked recessive		Xq21							US families
23	complex	autosomnal recessive	childhood	1q24-q32							Arabian family
24	complex	autosomnal recessive	childhood	13q14			No				Saudi Arabian family
25	complex	autosomnal recessive	30-46	6q23-q24							Italian family
26	complex	autosomnal recessive	06-Nov	12p11.1-q14					slow		Kuwaiti family
27	both	autosomnal recessive	25-45	10q22.1-q24.1			yes		slow	some	French-Canadian family
28	pure	autosomnal recessive	6-15	14q21.3-q22.3							Moroccan family
29	complex	autosomnal dominant	~15	1p31.1-21.1			30%			60%	Scottish family
30	complex	autosomnal recessive	12-21	2q37.3				50%	slow		Algerian origin family
31	both	autosomnal dominant	childhood-young adulthood	2p11.2		Varied				some by 30-35	>25 families mostly European
32	complex	autosomnal recessive	6-7	14q12-q21			none		very slow		Potuguese family
33	pure	autosomnal dominant	adulthood	10q24.2		Missence			slow	yes	German family
34	pure	x-linked recessive	late childhood	Xq25-q25			none	none		3-4 decades	Brazilian family
35	complex	autosomnal recessive	4-11	16q21-q23.1			yes				Omani and Pakistani families
36	complex	autosomnal dominant	24-30	12q23-q24			yes				German family
37	pure	autosomnal dominant	32	8p21.1-q13.3			38%				French family
38		autosomnal dominant	17	4p16-p15							Italian family
39	complex	autosomnal recessive	<7	19p13.3		Missence, Frameshift insertion	yes		slow		Ashkenazi-Jewish & Northern European (German) families
40	pure	autosomnal dominant		3q24-q26							Chinese families
40		autosomnal dominant									Caucasian family
41	pure	autosomnal dominant	17	11p14.1-p11.2			some		slow		Chinese family
42		autosomnal dominant	first two decades	3q24-q26		Missence				None	Chinese family
43		autosomnal recessive	7-12	19p13.11-q12			none		slow		Mali family
44	complex	autosomnal recessive	1st/2nd decades	1q41-q42			some	some			Italian family
45	complex	autosomnal recessive	<1	10q24.3-q25.1							Turkish famliy
46	complex	autosomnal recessive	2-7	9p21.2-q21.12			50%		slow		Tunisian family
47	complex	autosomnal recessive		1p13.2-1p12							Arabian family
48		autosomnal recessive	49-50	7p22.1		Varied	Yes		slow		French family

Another couple of useful web links

I was having a bit of a browse looking up various HSP info, and I found this one: http://emedicine.medscape.com/article/306713-overview. I like this because (a) it has lots of info presented and (b) the info it gives is written in a style I like. Therefore, it may also appeal to any regular readers here? There are lots more medical terms i need to look up and understand as well.

I also found this page: http://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-4 which gives plenty of opportunities to get side-tracked clicking link after link after link...

Symptoms Update, One Year In

Hi.

I realised that this post marks the start of my second year blogging, the first post being up in June 2010. So, a brief review of what I've discovered, and a comment about my symptoms.

In the last year I've found that there is a fair wedge of information about the condition out there, and that really the condition is a collective name for several different things. There's still lots that I dont know and so I endeavour to keep on searching out more information.

In terms of my symptoms, I posted a month or two ago that I've spotted my muscles becoming tight more frequently, and since then I've noticed this more often, and I'm having to 'force' my muscles to relax more and more. Also, I've found the last couple of weeks at Pilates more difficult than previously, and I wonder if I am now in the beginnings of the "Rapid Onset" of the condition proper. I feel that this might mean more symptoms updates from me going forwards.

Giving Blood

I give blood regularly. When I went to donate after I had had the genetic test there was a little uncertainty about if I could continue donating. But, fortunately, after some correspondence between the blood service and my genetics team, the blood service are happy for me to carry on donating blood even though I have the condition.

It will be interesting to see if this changes should I get prescribed anything to ease any condition symptoms in the future.

The differences between the types?

Todays thoughts revolve around the broad nature of the condition.

So, I have looked at the condition in types, of which there are two (see 25th Feb http://hspjourney.blogspot.com/2011/02/condition-in-types.html) and I mention the different HSP variants on 25th March (http://hspjourney.blogspot.com/2011/03/interpreting-genetic-test-results.html). I haven't looked into the different dominant/recessive/x-linked recessive variations either.

The different pages which describe the condition are fairly general about when people first get onset of the condition and are even more general about how severe the effects might be. For example, this page http://www.ncbi.nlm.nih.gov/books/NBK1509/ gives listing of various SPG variants (up to SPG33), and with each one there's a range of onset ages. I note that in July '10, SPG48 was identified http://www.plosbiology.org/article/info%3Adoi%2F10.1371%2Fjournal.pbio.1000408.

I presume that that variation in severity is due to the amount of degradation in the nerves in the spinal column, but, I dont know the link between the particular SPG genetic modifications and the degradation of the nervous system - a topic for another post, perhaps. I am not surprised that there is variation in the condition given the ~50 variants, each with a range of onset age. I cannot decide if I should be surprised if 50 different variations give rise to the same broad symptoms though.

(However, if I think of potential reasons for my computer behaving slower at times, perhaps I should not be suprised, given the further complexity of the human body....)