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: 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.

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