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.
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. This table contains the types of HSP discovered up to 2016. Readers should note that this table is a snapshot of HSP representing commonly occurring findings. For some types of HSP your diagnosis may not fit this table - for example it is possible to get SPG4 with complex characteristics.
It is possible to have a HSP diagnosis, without knowing your HSP type.
|
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 |
Pure |
|
SPG7 |
SPG7 |
Variable |
Variable |
|
SPG8 |
KIAA0196 |
Adult |
Pure |
|
SPG9A |
ALDH18A1 |
Teenage |
Complicated |
|
SPG9B |
ALDH18A1 |
Early |
Complicated |
|
SPG10 |
KIF5A |
Early |
Variable |
|
SPG11 |
SPG11 |
Variable |
Complicated |
|
SPG12 |
RTN2 |
Early |
Pure |
|
SPG13 |
HSP60 |
Variable |
Pure |
|
SPG14 |
Adult |
Complicated |
|
|
SPG15 |
ZFYVE26 |
Early |
Complicated |
|
SPG16 |
Early |
Complicated |
|
|
SPG17 |
BSCL2 |
Teenage |
Complicated |
|
SPG18 |
ERLIN2 |
Early |
|
|
SPG19 |
Adult onset |
Pure |
|
|
SPG20 |
SPG20 |
Early onset |
Complicated |
|
SPG21 |
ACP33 |
Early onset |
Complicated |
|
SPG22 |
SLC16A2 |
Early onset |
Complicated |
|
SPG23 |
RIPK5 |
Early onset |
Complicated |
|
SPG24 |
Early onset |
Pure |
|
|
SPG25 |
Adult |
Complicated |
|
|
SPG26 |
B4GALNT1 |
Early onset |
Complicated |
|
SPG27 |
Variable |
Pure |
|
|
SPG28 |
DDHD1 |
Early onset |
Variable |
|
SPG29 |
Teenage |
Complicated |
|
|
SPG30 |
KIF1A |
Teenage |
Complicated |
|
SPG31 |
REEP1 |
Early onset |
Pure |
|
SPG32 |
Childhood |
Complicated |
|
|
SPG33 |
ZFYVE27 |
Adult |
Pure |
|
SPG34 |
Teenage/Adult |
Pure |
|
|
SPG35 |
FA2H |
Childhood |
Complicated |
|
SPG36 |
Teenage/Adult |
Complicated |
|
|
SPG37 |
Variable |
Pure |
|
|
SPG38 |
Teenage/Adult |
Complicated |
|
|
SPG39 |
PNPLA6 |
Childhood |
Complicated |
|
SPG41 |
Adolescence |
||
|
SPG42 |
SLC33A1 |
Variable |
Pure |
|
SPG43 |
C19orf12 |
Childhood |
Variable |
|
SPG44 |
GJC2 |
Childhood/teenage |
Complicated |
|
SPG45 |
NT5C2 |
Infancy |
Complicated |
|
SPG46 |
GBA2 |
Variable |
Complicated |
|
SPG47 |
AP4B1 |
Childhood |
Complicated |
|
SPG48 |
AP5Z1 |
6th decade |
Complicated |
|
SPG49 |
TECPR2 |
Infancy |
Complicated |
|
SPG50 |
AP4M1 |
Infancy |
Complicated |
|
SPG51 |
AP4E1 |
Infancy |
Complicated |
|
SPG52 |
AP4S1 |
Infancy |
Complicated |
|
SPG53 |
VPS37A |
Childhood |
Complicated |
|
SPG54 |
DDHD2 |
Childhood |
Complicated |
|
SPG55 |
C12orf65 |
Childhood |
Complicated |
|
SPG56 |
CYP2U1 |
Childhood |
Variable |
|
SPG57 |
TFG |
Early |
Complicated |
|
SPG58 |
KIF1C |
Within first two decades |
Complicated |
|
SPG59 |
USP8 |
Childhood |
Pure |
|
SPG60 |
WDR48 |
Infancy |
Complicated |
|
SPG61 |
ARL6IP1 |
Infancy |
Complicated |
|
SPG62 |
ERLIN1 |
Childhood |
Complicated |
|
SPG63 |
AMPD2 |
Infancy |
Variable |
|
SPG64 |
ENTPD1 |
Childhood |
Complicated |
|
SPG66 |
ARSI |
Infancy |
Complicated |
|
SPG67 |
PGAP1 |
Infancy |
Complicated |
|
SPG68 |
KLC2 |
Childhood |
Complicated |
|
SPG69 |
RAB3GAP2 |
Infancy |
Complicated |
|
SPG70 |
MARS |
Infancy |
Variable |
|
SPG71 |
ZFR |
Childhood |
Complicated |
|
SPG72 |
REEP2 |
Infancy |
Pure |
|
SPG73 |
CPT1C |
Adult |
|
|
SPG74 |
IBA57 |
Childhood |
|
|
SPG75 |
MAG |
Childhood |
|
|
SPG76 |
CAPN1 |
Adult |
|
|
SPG77 |
FARS2 |
Childhood |
|
|
SPG78 |
ATP13A2 |
Adult |
|
|
SPG79 |
UCHL1 |
Childhood |
Yet to Be Confirmed/Classified
|
HSP type |
Gene name |
Age of onset |
Pure / complicated |
|
HSNSP |
CCT5 |
Early |
|
|
SERAC1 |
Early |
||
|
KY |
Early |
||
|
PLA2G6 |
Early |
||
|
ATAD3A |
Early |
||
|
KCNA2 |
Early |
||
|
Granulin |
|||
|
POLR3A |
|||