Hereditary spastic paraplegia (HSP) is the name for a group of inherited diseases, which have lower limb weakness at their core. New types of HSP are being regularly discovered, thanks to advances in genetics.
The HSP Support Group have collated this simplified table using information from the following sources:
NCBI - National Centre for Biotechnology Information (USA)
OMIM® - Online Mendelian Inheritance in Man® (USA)
NORD – National Organisation for Rare Disorders (USA)
GARD - The Genetic and Rare Diseases Information Center (USA)
As new research is conducted, findings in this table are likely to change. If you believe there should be an amendment to the information here, please contact us.
|
HSP type |
Gene name |
Age of onset |
Pure / complicated |
|
SPG1 |
L1CAM |
Early |
Complicated |
|
SPG2 |
PLP1 |
Variable |
Variable |
|
SPG3A |
ATL1 |
Early |
Pure |
|
SPG4 |
SPAST |
Variable |
Variable |
|
SPG5A |
CYP7B1 |
Variable |
Variable |
|
SPG6 |
NIPA1 |
Variable |
Variable (often pure) |
|
SPG7 |
SPG7 |
Variable |
Variable |
|
SPG8 |
KIAA0196 |
Adult |
Pure |
|
SPG9A |
ALDH18A1 |
Variable (often teenage onwards) |
Complicated |
|
SPG9B |
ALDH18A1 |
Early |
Complicated |
|
SPG10 |
KIF5A |
Variable |
Variable |
|
SPG11 |
SPG11 |
Variable |
Complicated |
|
SPG12 |
RTN2 |
Variable (often before 20 years) |
Pure |
|
SPG13 |
HSP60 |
Variable |
Pure |
|
SPG14 |
Adult |
Complicated |
|
|
SPG15 |
ZFYVE26 |
Early |
Complicated |
|
SPG16 |
Early |
Complicated |
|
|
SPG17 |
BSCL2 |
Variable (often teenage) |
Complicated |
|
SPG18 |
ERLIN2 |
Early |
Variable |
|
SPG19 |
Adult |
Pure |
|
|
SPG20 |
SPG20 |
Early |
Complicated |
|
SPG21 |
ACP33 |
Early (often teens to 20’s) |
Complicated |
|
SPG22 |
SLC16A2 |
Early |
Complicated |
|
SPG23 |
RIPK5 |
Early |
Complicated |
|
SPG24 |
Early |
Pure |
|
|
SPG25 |
Adult |
Complicated |
|
|
SPG26 |
B4GALNT1 |
Early |
Complicated |
|
SPG27 |
Variable |
Pure |
|
|
SPG28 |
DDHD1 |
Early |
Variable |
|
SPG29 |
Early (often teenage) |
Complicated |
|
|
SPG30 |
KIF1A |
Early (often teenage) |
Complicated |
|
SPG31 |
REEP1 |
Variable |
Variable |
|
SPG32 |
Early |
Complicated |
|
|
SPG33 |
ZFYVE27 |
Adult |
Pure |
|
SPG34 |
Variable (often teens to 20’s) |
Pure |
|
|
SPG35 |
FA2H |
Early |
Complicated |
|
SPG36 |
Variable |
Complicated |
|
|
SPG37 |
Variable |
Pure |
|
|
SPG38 |
Variable |
Complicated |
|
|
SPG39 |
PNPLA6 |
Early |
Complicated |
|
SPG41 |
Early |
Pure |
|
|
SPG42 |
SLC33A1 |
Variable |
Pure |
|
SPG43 |
C19orf12 |
Early |
Variable |
|
SPG44 |
GJC2 |
Early |
Complicated |
|
SPG45 |
NT5C2 |
Early |
Complicated |
|
SPG46 |
GBA2 |
Variable |
Complicated |
|
SPG47 |
AP4B1 |
Early |
Complicated |
|
SPG48 |
AP5Z1 |
Variable |
Complicated |
|
SPG49 |
TECPR2 |
Early |
Complicated |
|
SPG50 |
AP4M1 |
Early |
Complicated |
|
SPG51 |
AP4E1 |
Early |
Complicated |
|
SPG52 |
AP4S1 |
Early |
Complicated |
|
SPG53 |
VPS37A |
Early |
Complicated |
|
SPG54 |
DDHD2 |
Early |
Complicated |
|
SPG55 |
C12orf65 |
Early |
Complicated |
|
SPG56 |
CYP2U1 |
Early |
Variable |
|
SPG57 |
TFG |
Early |
Variable |
|
SPG58 |
KIF1C |
Early |
Complicated |
|
SPG59 |
USP8 |
Early |
Pure |
|
SPG60 |
WDR48 |
Early |
Complicated |
|
SPG61 |
ARL6IP1 |
Early |
Complicated |
|
SPG62 |
ERLIN1 |
Early |
Variable |
|
SPG63 |
AMPD2 |
Early |
Variable |
|
SPG64 |
ENTPD1 |
Early |
Complicated |
|
SPG66 |
ARSI |
Early |
Complicated |
|
SPG67 |
PGAP1 |
Early |
Complicated |
|
SPG68 |
KLC2 |
Early |
Complicated |
|
SPG69 |
RAB3GAP2 |
Early |
Complicated |
|
SPG70 |
MARS |
Early |
Variable |
|
SPG71 |
ZFR |
Early |
Complicated |
|
SPG72 |
REEP2 |
Early |
Pure |
|
SPG73 |
CPT1C |
Adult |
Pure |
|
SPG74 |
IBA57 |
Early |
Complicated |
|
SPG75 |
MAG |
Early |
Complicated |
|
SPG76 |
CAPN1 |
Adult |
Complicated |
|
SPG77 |
FARS2 |
Early |
Variable |
|
SPG78 |
ATP13A2 |
Adult |
Complicated |
|
SPG79 |
UCHL1 |
Early |
Complicated |
Yet to Be Confirmed/Classified
|
HSP type |
Gene name |
Age of onset |
Pure / complicated |
|
HSNSP |
CCT5 |
Early |
Complicated |
|
SERAC1 |
Early |
||
|
KY |
Early |
||
|
PLA2G6 |
Early |
||
|
ATAD3A |
Early |
Complicated |
|
|
KCNA2 |
Early |
||
|
Granulin |
|||
|
MT-ATP6 |
Adult |
Complicated |
|
|
ADAR |
Early |
Pure |
|
|
BICD2 |
Variable |
Complicated |
|
|
DMN23 |
Early |
Complicated |
|
|
ATP2B4 (PMCA4) |
Adult |
Pure |
|
|
TUBB4A2 |
Early |
Complicated |
|
|
ALDH3A2 |
Early |
Complicated |
|
|
GAD1 |
Early |
Complicated |
|
|
GRID2 |
Early |
Complicated |
|
|
KLC2 |
Early |
Complicated |
|
|
KLC4 |
Early |
Complicated |
|
|
IFIH1 |
Early |
Pure |
This latest table was updated in September 2021 and provides a snapshot of HSP. Studies of some HSP types have resulted in conflicting information for age of onset and pure / complicated form. Due to this, in places the data includes the most commonly occurring findings. For some types of HSP your diagnosis may therefore not fit this table.
Using the table
The table includes the HSP type, the gene, typical age of onset and typical form (pure or complicated).
HSP Type column
HSP types are identified by the letters SPG then a number. The numbers correlate to the discovery of the faulty gene, so SPG1 was the first to be discovered, in 1994, with SPG79 being the most recent. As you can see from the table there are a number of genes yet to be classified. It is also possible to have a HSP diagnosis, without knowing your HSP type.
Gene name column
This column includes the gene which causes the HSP Type.
Age of onset column
Early onset covers symptoms occurring from birth to the second decade of life (0-19)
Variable means symptoms can occur at any age.
Adult means symptoms typically present after the second decade (20+).
Any additional wording in brackets denotes the most common age of onset.
Pure / Complicated column
Pure means a uncomplicated version of HSP
Complicated means a complicated version of HSP
Variable means that those with the HSP type can fall under either category dependent on their symptoms.
For more information on pure and complicated HSP visit our symptoms page.