SPG21 (ACP33) | SPG21 | Complicated | Childhood |
| Rare, first described in Old Order Amish population (later identified in various ethnic groups) Also known as Mast syndrome
| OMIM 248900 | Cross & McKusick [1967a], Simpson et al [2003], Ishiura et al [2014] |
ALDH18A1 | SPG9B | Complicated | Adolescence to adulthood (one subject w/infantile onset) | Cataracts Gastroesophageal reflux Motor neuronopathy
Variably present:
Dysarthria Ataxia Cognitive impairment
| Rare Allelic w/AD HSP (SPG9A)
| OMIM 616586 | Coutelier et al [2015] |
ALDH3A2 | Not assigned | Complicated | Childhood |
|
| | Rizzo et al [1999], Gordon [2007] |
AMPD2 2 | SPG63 | Complicated | Infancy | Short stature Thin corpus callosum White matter changes
| Rare | OMIM 615686 | Novarino et al [2014], Kortüm et al [2018] |
AP4B1 | SPG47 | Complicated | Infancy |
| Rare | OMIM 614066 | Abou Jamra et al [2011], Bauer et al [2012] |
AP4E1 | SPG51 | Complicated | Infancy |
| Rare | OMIM 613744 | Abou Jamra et al [2011], Moreno-De-Luca et al [2011] |
AP4M1 | SPG50 | Complicated | Infancy |
| Rare | OMIM 612936 | Verkerk et al [2009] |
AP4S1 | SPG52 | Complicated | Infancy |
| Rare | OMIM 614067 | Abou Jamra et al [2011], Hardies et al [2015] |
AP5Z1 | SPG48 | Uncomplicated | Typically adulthood; rarely infancy |
| Single family | OMIM 613647 | Słabicki et al [2010], Pensato et al [2014] |
ATL1 | SPG3A | Uncomplicated | Infantile to childhood (rarely adult onset) |
| AR inheritance is very rare. | Spastic Paraplegia 3A | Khan et al [2014] |
B4GALNT1 | SPG26 | Complicated | Juvenile | Amyotrophy Dysarthria Ataxia DD Dystonia
| Rare | OMIM 609195 | Boukhris et al [2013], Harlalka et al [2013] |
BICD2 | Not assigned | Complicated | Childhood |
| Rare | | Oates et al [2013] |
MTRFR (C12orf65) | SPG55 | Complicated | Childhood |
| Rare | OMIM 615035 | Shimazaki et al [2012] |
C19orf12 | SPG43 | Complicated | Childhood |
| Rare | OMIM 615043 | Landouré et al [2013], Schubert et al [2016] |
CYP2U1 | SPG56 | Complicated | Infancy |
| Rare | OMIM 615030 | Tesson et al [2012] |
CYP7B1 | SPG5A | Uncomplicated or complicated | Juvenile to early adulthood |
| SPG5A was diagnosed in 9 of 172 families w/histories consistent w/AR inheritance of HSP. 3 | OMIM 270800 | Tsaousidou et al [2008], Goizet et al [2009] |
DDHD1 | SPG28 | Uncomplicated | Childhood | Scoliosis | Rare | OMIM 609340 | Tesson et al [2012] |
DDHD2 | SPG54 | Complicated | Infancy | Severe DD Optic atrophy Thin corpus callosum Leukodystrophy
| Rare | OMIM 615033 | Schuurs-Hoeijmakers et al [2012] |
ENTPD1 | SPG64 | Complicated | Infancy |
| Rare | OMIM 615683 | Novarino et al [2014] |
ERLIN1 | SPG62 | Complicated | Childhood |
| Rare | OMIM 615681 | Novarino et al [2014], Tunca et al [2018] |
ERLIN2 | SPG18 | Complicated (rarely pure AR HSP reported) | Childhood | DD Seizures Contractures Juvenile primary lateral sclerosis phenotype reported Allelic w/AD pure HSP
| Rare | OMIM 611225 | Alazami et al [2011], Yıldırım et al [2011], Al-Saif et al [2012] |
FA2H 4 | SPG35 | Complicated | Childhood |
| Rare | OMIM 612319 | Edvardson et al [2008], Dick et al [2010], Pensato et al [2014] |
GAD1 | Not assigned | Complicated | Childhood |
| Rare (single family reported) | | Lynex et al [2004] |
GBA2 | SPG46 | Complicated | Childhood | DD Ataxia Hearing loss Polyneuropathy
| Rare | OMIM 614409 | Hammer et al [2013], Coarelli et al [2018] |
GJC2 5 | SPG44 | Complicated | Childhood |
| Rare | OMIM 613206 | Uhlenberg et al [2004], Orthmann-Murphy et al [2009] |
GRID2 6 | Not assigned | Complicated | Childhood |
| Rare | | Utine et al [2013], Maier et al [2014] |
IBA57 7 | SPG74 | Complicated | Childhood | Optic atrophy Peripheral neuropathy
| Rare | OMIM 616451 | Lossos et al [2015], Torraco et al [2017] |
KIF1A 8 | SPG30 | Complicated | Childhood | Spastic ataxia Polyneuropathy
| Rare | OMIM 610357 | Hamdan et al [2011], Rivière et al [2011], Klebe et al [2012] |
KIF1C | SPG58 | Complicated | Childhood |
| Rare | | Caballero Oteyza et al [2014], Dor et al [2014] |
KLC2 | Not assigned | Complicated | Childhood |
|
| OMIM 609541 | Melo et al [2015] |
KLC4 | Not assigned | Complicated | Childhood |
| Rare | | Bayrakli et al [2015] |
MARS1 9 | SPG70 | Complicated | Infancy |
| Rare | | Gonzalez et al [2013], Novarino et al [2014] |
NT5C2 | SPG45 | Complicated | Childhood |
| Rare | OMIM 613162 | Novarino et al [2014], Elsaid et al [2017] |
PGAP1 10 | SPG67 | Complicated | Infancy |
| Rare | | Murakami et al [2014], Novarino et al [2014] |
PNPLA6 11 | SPG39 | Complicated | Childhood |
| Rare | PNPLA6-Related Disorders | Rainier et al [2008], Synofzik et al [2014], Hufnagel et al [2015] |
REEP2 | SPG72 | Uncomplicated | Early childhood | Musculoskeletal problems Mild postural tremor
|
| OMIM 615625 | Esteves et al [2014] |
SPART | SPG20 | Complicated | Juvenile |
|
| Troyer Syndrome | Cross & McKusick, [1967b], Patel et al [2002] |
SPG7 | SPG7 | Uncomplicated or complicated | Juvenile or adulthood |
|
| Spastic Paraplegia 7 | Casari et al [1998], McDermott et al [2001], Arnoldi et al [2008], Brugman et al [2008] |
SPG11 | SPG11 | Complicated | Childhood or early adulthood |
|
| Spastic Paraplegia 11 | Stevanin et al [2007], Paisan-Ruiz et al [2008], Riverol et al [2009], Guidubaldi et al [2011] |
TECPR2 | SPG49 | Complicated | Childhood | Central apnea Severe DD Microcephaly Dysmorphic features
| Rare | OMIM 615031 | Oz-Levi et al [2012] |
TFG | SPG57 | Complicated | Childhood | Optic atrophy Severe polyneuropathy
| Rare | OMIM 615658 | Beetz et al [2013] |
USP8 | SPG59 | Uncomplicated | Childhood | None | Rare | | Novarino et al [2014] |
WDR48 | SPG60 | Complicated | Infancy |
| Rare | | Novarino et al [2014] |
ZFYVE26 | SPG15 | Complicated | Childhood or early adulthood |
| 1%-2% of AR HSP | OMIM 270700 | Hanein et al [2008], Pensato et al [2014] |