1. Muscular dystrophies 5. Other myopathies 9. Metabolic myopathies 13. Hereditary ataxias
2. Congenital muscular dystrophies 6. Myotonic syndromes 10. Hereditary cardiomyopathies 14. Hereditary motor and sensory neuropathies
3. Congenital myopathies 7. Ion channel muscle diseases 11. Congenital myasthenic syndromes 15. Hereditary paraplegias
4. Distal myopathies 8. Malignant hyperthermia 12. Motor neuron diseases 16. Other neuromuscular disorders


15. Hereditary paraplegias (See references)

Disease phenotype
Item in this table
Key references
Gene symbol (chromosome)
protein
All allelic disease phenotypes - locus/disease symbols
Spastic paraplegia 3, autosomal dominant (Strumpell disease) - (AD)
15.1
15517445
8252041
SPG3A (14q22.1)
atlastin
* Familial spastic paraplegia, autosomal dominant, 1 - FSP1
* Spastic paraplegia 3A - SPG3A
Spastic paraplegia 4, autosomal dominant - (AD)
15.2
7833913
SPAST (2p24-p21)
spastin
* Familial spastic paraplegia, autosomal dominant, 2 - FSP2
* Spastic paraplegia 4 - SPG4
Spastic paraplegia 6, autosomal dominant - (AD)
15.3
14508710
7825577
NIPA1 (15q11.2)
non-imprinted in Prader-Willi/Angelman syndrome 1
* Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6
Spastic paraplegia 8, autosomal dominant - (AD)
15.4
17160902
9973294
KIAA0196 (8q24.13)
strumpellin
* Spastic paraplegia 8 - SPG8
Spastic paraplegia 9, autosomal dominant - (AD)
15.5
9973297
? - (10q23.3-q24.1)
* Spastic paraplegia 9 - SPG9
Spastic paraplegia 10, autosomal dominant - (AD)
15.6
10441583
KIF5A (12q13.13)
kinesin family member 5A
* Spastic paraplegia 10 - SPG10
Spastic paraplegia 12, autosomal dominant - (AD)
15.7
10677333
12427890
? - (19q13)
* Spastic paraplegia 12 - SPG12
Spastic paraplegia 13, autosomal dominant - (AD)
15.8
10677329
18571143
HSPD1 (2q33.1)
heat shock 60kDa protein 1 (chaperonin)
* Spastic paraplegia 13 - SPG13
Spastic paraplegia 17, autosomal dominant (Silver) - (AD)
15.9
14981520
BSCL2 (11q12-q13.5)
seipin
* Neuronopathy, distal hereditary motor, type V - HMN5
* Spastic paraplegia 17 - SPG17
Spastic paraplegia 19, autosomal dominant - (AD)
15.10
12112072
? - (9q33-q34)
* Spastic paraplegia 19 - SPG19
Spastic paraplegia 29, autosomal dominant - (AD)
15.11
16130112
? - (1p31-p21)
* Spastic paraplegia 29 - SPG29
Spastic paraplegia 31, autosomal dominant - (AD)
15.12
16565863
16826527
REEP1 (2p11.2)
receptor accessory protein 1
* Spastic paraplegia 31 - SPG31
Spastic paraplegia 33, autosomal dominant - (AD)
15.13
16826525
ZFYVE27 (10q24.2)
protrudin
* Spastic paraplegia 33 - SPG33
Spastic paraplegia 36, autosomal dominant - (AD)
15.14
19357379
? - (12q23-q24)
* Spastic paraplegia 36, autosomal dominant - SPG36
Spastic paraplegia 37, autosomal dominant - (AD)
15.15
17605047
? - (8p21.1-q13.3)
* Spastic paraplegia 37, autosomal dominant - SPG37
Spastic paraplegia 38, autosomal dominant - (AD)
15.16
18401025
? - (4p16-p15)
* Spastic paraplegia 38, autosomal dominant - SPG38
Spastic paraplegia 41, autosomal dominant - (AD)
15.17
18364116
? - (11p14.1-p11.2)
* Spastic paraplegia 41, autosomal dominant - SPG41
Spastic paraplegia 42, autosomal dominant - (AD)
15.18
19061983
SLC33A1 (3q25.3)
acetyl-Coenzyme A transporter
acetyl-Coenzyme A transporter
solute carrier family 33 (acetyl- CoA transporter)
* Spastic paraplegia 42, autosomal dominant - SPG42
Spastic paraplegia 5, autosomal recessive - (AR)
15.19
14658060
18252231
19187859
19224311
19439420
7987300
CYP7B1 (8p12-q13)
cytochrome P450, family 7, subfamily B, polypeptide 1
* Spastic paraplegia 5A - SPG5A
Spastic paraplegia 7, autosomal recessive - (AR)
15.20
9635427
SPG7 (16q24.3)
paraplegin
* Spastic paraplegia 7 - SPG7
Spastic paraplegia 11, autosomal recessive - (AR)
15.21
10408536
16699786
17322883
SPG11 (15q14)
spatacsin
* Spastic paraplegia 11 - SPG11
Spastic paraplegia 14, autosomal recessive - (AR)
15.22
10877981
? - (3q27-q28)
* Spastic paraplegia 14 - SPG14
Spastic paraplegia 15, autosomal recessive (Kjellin syndrome) - (AR)
15.23
11342696
17661097
18394578
ZFYVE26 (14q24.1)
spastizin
* Spastic paraplegia 15 - SPG15
Spastic paraplegia 18 - (AR)
15.24
16636240
? - (8p12-p11.21)
* Spastic paraplegia 18 - SPG18
Spastic paraplegia 20 (Troyer) - (AR)
15.25
12134148
SPG20 (13q12.3)
spartin
* Spastic paraplegia 20 - SPG20
Spastic paraplegia 21 (Mast) - (AR)
15.26
14564668
SPG21 (15q21-q22)
maspardin
* Spastic paraplegia 20 - SPG21
Spastic paraplegia 23 (Lison) - (AR)
15.27
14681889
? - (1q24-q32)
* Spastic paraplegia 23 - SPG23
Spastic paraplegia 24 - (AR)
15.28
12499481
? - (13q14)
* Spastic paraplegia 24 - SPG24
Spastic paraplegia 25 - (AR)
15.29
12070243
? - (6q23.3-q24.1)
* Spastic paraplegia 25 - SPG25
Spastic paraplegia 26 - (AR)
15.30
15635080
? - (12p11-q14)
* Spastic paraplegia 26 - SPG26
Spastic paraplegia 27 - (AR)
15.31
15455396
? - (10q22-q24)
* Spastic paraplegia 27 - SPG27
Spastic paraplegia 28 - (AR)
15.32
15786464
? - (14q21-q22)
* Spastic paraplegia 20 - SPG28
Spastic paraplegia 30 - (AR)
15.33
16434418
21487076
KIF1A (2q37.3)
kinesin family member 1A
* Neuropathy, hereditary sensory, type IIC - HSN2C
* Spastic paraplegia 30 - SPG30
Spastic paraplegia 32, autosomal recessive - (AR)
15.34
17515546
? - (14q12-q21)
* spastic paraplegia 32, autosomal recessive - SPG32
Spastic paraplegia 35, autosomal recessive - (AR)
15.35
18463364
FA2H (16q21-q23.1)
fatty acid 2-hydroxylase
* Dysmyelinating leukodystrophy - FAHN
* Spastic paraplegia 35, autosomal recessive - SPG35
Spastic paraplegia 39, autosomal recessive - (AR)
15.36
18313024
PNPLA6 (19p13.3-p13.2)
patatin-like phospholipase domain containing 6
* Spastic paraplegia 39, autosomal recessive - SPG39
Spastic paraplegia 43, autosomal recessive - (AR)
15.37
20039086
? - (19p13.11-q12)
* Spastic paraplegia 43, autosomal recessive - SPG43
Spastic paraplegia 45, autosomal recessive - (AR)
15.38
19415352
? - (10q24.3-q25.1)
* Spastic paraplegia 45, autosomal recessive - SPG45
Spastic paraplegia 47, autosomal recessive - (AR)
15.39
21440262
? - (1p13.2-1p12)
* Spastic paraplegia 47, autosomal recessive - SPG47
Spastic paraplegia 48, autosomal recessive - (AR)
15.40
20613862
KIAA0415 (7p22.2)
hypothetical protein LOC9907 ?
* Spastic paraplegia 48, autosomal recessive - SPG48
Spastic paraplegia, complicated recessive (Sjogren-Larsson syndrome) - (AR)
15.41
7894487
8528251
ALDH3A2 (17p11.2)
aldehyde dehydrogenase 3A2
* Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2
* Fatty aldehyde dehydrogenase - FALDH
* Sjogren-Larsson syndrome - SLS
Infantile-onset ascending spastic paraplegia - (AR)
15.42
12145748
ALS2 (2q33.2)
alsin
* Amyotrophic lateral sclerosis, juvenile - ALS2
* Primary lateral sclerosis, juvenile - PLSJ
* Spastic paralysis, infantile onset ascending - IAHSP
Spastic paraplegias, X-linked type 1 (MASA syndrome X-linked hydrocephalus) - (XR)
15.43
3460961
7920659
L1CAM (Xq28)
L1 cell adhesion molecule
* CRASH syndrome - L1CAM
* CRASH syndrome - HSAS
* Hydrocephalus with Hirschspung disease and cleft palate - HSCR
* MASA syndrome - L1CAM
Spastic paraplegias, X-linked type 2 - (XR)
15.44
3479019
7522741
8012387
PLP1 (Xq22)
proteolipid protein 1
* Pelizaeus-Merzbacher disease - PMD
* Spastic paraplegia 2 - SPG2
Spastic paraplegia, X-linked type 16 - (XR)
15.45
9254866
? - (Xq11.2)
* Spastic paraplegia 16 - SPG16
Autosomal recessive spastic ataxia of Charlevoix-Saguenay - (AR)
15.46
10610707
10655055
9829277
SACS (13q12)
sacsin
* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS
* Spastic ataxia, Charlevoix-Saguenay type - SACS
Autosomal dominant spastic ataxia 1 - (AD)
15.47
11774073
? - (12p13)
* ataxia, spastic, 1, autosomal dominant - SPAX1
Autosomal recessive spastic ataxia 2 - (AR)
15.48
17273843
? - (17p13)
* ataxia, spastic, 2, autosomal recessive - SPAX2
Autosomal recessive spastic ataxia 3 (with leukoencephalopathy) - (AR)
15.49
16672289
? - (2q33-34)
* autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL