Genetics of hereditary spastic paraplegia

ACRO-NYM	OMIM #	Inheritance	CHR. locus	Phenotype	Gene product	Known/proposed function	References


SPG1	303350	X-linked R	Xq28	Complicated	L1CAM	Development and guidance of the corticospinal tract	Jouet et al. 1994


SPG2	312920	X-linked R	Xq21-22	Complicated	PLP	Axonal-glial interactions	Saugier-Veber et al. 1994


SPG3A	182600	AD	14q11-q21	Pure	Atlastin	Guanylate-protein binding 1 homolog	Zhao et al. 2001

SPG4	182601	AD	2p24-21	Pure	Spastin	Microtubule dynamics/nuclear role	Hazan et al 1999; Errico et al. 2002; Charvin et al. 2003

SPG5	270800	AR	8q12-q13	Pure	Cyt-P450 7B1	Lipid metabolism; bile acid biosynthesis	Hentati et al. 1994; Tsaousidou et al. 2008
SPG6	600363	AD	15q11.1	Pure/compli-cated	NIPA1	Mg2+ transporter	Rainier et al. 2003

SPG7	602783	AR	16q24.3	Pure/compli-cated	Paraplegin	Mitochondrial m-AAA protease	Casari et al. 1998
SPG8	603563	AD	8q23-24	Pure	Strumpellin	Unknown	Reid et al. 1999; Valdmanis et al. 2006
SPG9	601162	AD	10q23-24	Complicated	unknown		Lo Nigro et al. 2000


SPG10	604187	AD	12q13	Pure	KIF5A	Anterograde motor protein	Reid et al. 2002

SPG11	604360	AR	15q13	Complicated	spatacsin		Martinez Murillo et al. 1999; Stevanin et al. 2007
SPG12	604805	AD	19q13	Pure	unknown		Reid et al. 2000
SPG13	605280	AD	2q24	Pure	Hsp60	Mitochondrial chaperonin	Hansen et al. 2002

SPG14	605229	AR	3q27-28	Complicated	unknown		Vazza et al. 2000


SPG15	270700	AR	14q22-q24	Complicated	spastizin		Hanein et al, 2008 Hughes et al. 2001


SPG16	300266	X-linked R	Xq11.2	Complicated	unknown		Tamagaki et al. 2000


SPG17	270685	AD	11q12-q14	Complicated	BSCL2 (Seipin)		Patel et al. 2001; Windpassinger et al. 2004


SPG19	607152	AD	9q33-q34	Pure	unknown		Valente et al. 2002
SPG20	275900	AR	13q12.3	Complicated	Spartin	Unknown	Patel et al. 2002


SPG21	248900	AR	15q21.q22	Complicated	Maspardin	Unknown	Simpson et al, 2003


SPG23	277050	AD	1q24-q32	Complicated	unknown		Blumen et al, 2003


SPG24	607584	AR	13q14	Complicated	unknown		Hodgkinson et al, 2002


SPG26	609195	AR	12p11.1-12q14	Complicated	unknown		Wilkinson et al. 2005


SPG27	609041	AR	10q22.1-q24.1	pure	unknown		Meijer et al, 2004
SPG28	609340	?	14q21.3-q22.3	?	unknown		Bouslam et al, 2005
SPG29	609727	?	1p31.1-21.1	Complicated	unknown		Orlacchio et al, 2005
SPG30		AR	2q37.3	Complicated	unknown		Klebe et al, 2006
SPG31	610250	AD	2p12	pure	REEP1	Unknown	Züchner et al, 2006a; Züchner et al, 2006b
SPG32		AR	14q12-q21	Complicated	unknown		Stevanin et al, 2007
SPG33	610244	AD	10q24.2	?	ZFYVE27/protrudin	interacts with spastin; promotes outgrowth of cellular projections and neurite formation	Mannan et al, 2006 !!? comment: Martignoni et al. 2008
SPG35		AR	16q21-q23	Complicated	unknown		Dick et al, 2008