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) | Progression may be minimal w/static course May present as spastic diplegic cerebral palsy Complicated phenotype w/peripheral neuropathy or autonomic failure reported
| 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 |
ENTPD1-Related Neurodevelopmental Disorder
|
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 |
| 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 |
TECPR2-HSAN with ID
|
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 |
Spastic Paraplegia 15
| Hanein et al [2008], Pensato et al [2014] |