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 |
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