SPG5
|
CYP7B1
8p12-q13 |
Cytochrome P450, family 7, subfamily B, polypeptide 1 |
Pure or complicated: generalized muscle atrophy and white matter lesions. |
SPG7
|
SPG7
16q24.3 |
Paraplegin |
Pure and complicate: amyotrophy, dysarthria, dysphasia, cerebellar and optic atrophy. |
SPG11
|
SPG11
15q14 |
Spatacsin |
Pure and complicated/early onset, cognitive impairment, neuropathy, movement disorders, TCC. |
SPG14
|
Gene Unknown 3q27-q28 |
Unknown |
Complicated: polineuropathy, mental retardation. |
SPG15 (Kjellin)
|
ZFYVE26
14q24.1 |
Spastizin |
Complicated: spastic paraplegia with macular dystrophy, mental retardation and amyotrophia (Kjellin syndrome). |
SPG18
|
ERLIN2
p11.23 |
Erlin-2 |
Complicated: mental retardation, TCC. |
SPG20 (Troyer)
|
SPG20
13q12.3 |
Spartin |
Complicated: dysarthria and distal amyotrophy. |
SPG21 (Mast)
|
SPG21
15q21-q22 |
Maspardin |
Complicated: cognitive decline, movement disorders, TCC, white matter abnormalities. |
SPG23 (Lison)
|
Gene unknown 1q24-q32 |
Unknown |
Complicated/skin and hair pigmentary lesions, skeletal abnormalities. |
SPG24
|
Gene unknown 13q14 |
Unknown |
Pure/spastic dysarthria and pseudobulbar signs |
SPG25
|
Gene unknown 6q23.3-q24.1 |
Unknown |
Complicated: multiple disc herniation, cataract, congenital glaucoma. |
SPG26
|
Gene unknown 12p11-q14 |
Unknown |
Child onset, complicated:distal amyotrophy cognitive impairment, dysarthria. |
SPG27
|
Gene unknown 10q22-q24 |
Unknown |
Pure or complicated: cognitive impairment, ataxia, dysarthria, polyneuropathy, short stature, dismorphic face. |
SPG28
|
DDHD1
14q22.1 |
DDHD1 |
Pure early-onset. |
SPG29
|
Gene unknown 1p31.1-p21.1 |
Unknown |
Pure, childhood onset. |
SPG30
|
KIF1A
2q37.3 |
Kinesin family member 1A |
Complicated: ataxia, sensory neuropathy. |
SPG32
|
Gene unknown 14q12-q21 |
Unknown |
Complicated: mental retardation, ataxia, brainstem dysraphia and cerebellar atrophy. |
SPG35
|
FA2H
16q21-q23.1 |
Fatty acid 2-hydroxilase |
Childhood onset, complicated: cognitive decline, movement disorders, epilepsy. Brain white matter lesions and iron accumulation. |
SPG39
|
PNPLA6
19p13.2 |
Neuropathy Target Esterase (NTE) |
Complicated: childhood onset, marked distal wasting in all four limbs. |
SPG43
|
Gene unknown 19p13.11-q12 |
Unknown |
Complicated: Silver-syndrome and dysarthria. |
SPG44
|
CJC2
1q42.13 |
Connexin 47 |
Adulthood onset complicated: cognitive decline, spasticity of four limbs. |
SPG45
|
Gene unknown 10q24.3-q25.1 |
Unknown |
Childhood onset complicated: mental retardation, optic athrophy. |
SPG46
|
Gene unknown 9p21.2-q21.12 |
Unknown |
Dementia, congenital cataract, ataxia, TCC. |
SPG47
|
AP4B1
1p13.2 |
AP-4 complex subunit beta-1 |
Complicated: neonatal hypotonia, progressive hypertonia, severe mental retardation, ataxia, seizures, TCC. |
SPG48
|
KIAA0415
7p22.1 |
KIAA0415 |
Pure. |
SPG49
|
TECPR2
14q32.31 |
Unknown |
Delayed psychomotor development, early spasticity, dismorphic features, TCC, central apnea. |
SPG50
|
AP4M1
7q22.1 |
Adaptor-related protein complex 4, mu 1 subunit |
Complicated/neonatal hypotonia that progresses to hypertonia. Severe mental retardation. |
SPG51
|
AP4E1 15q21.2 |
Adaptor-related protein complex 5, zeta 1 subunit |
Complicated: neonatal hypotonia that progresses to hypertonia. Severe mental retardation. Same phenotype as SPG50. |
SPG52
|
AP4S1
14q12 |
AP4S1 |
Complicated: neonatal hypotonia that progresses to hypertonia. Dysmorphic features. |
SPG53
|
Gene unknown 8p22 |
VSP37A |
Complicated: psychomotor delay, spasticity of four limbs. |
SPG54
|
DDHD2
8p11 |
Unknown |
Psychomotor delay, cognitive impairment, dismorphic features. TCC and white matter lesions. |
SPG55
|
C12orf65
12q24.31 |
C12orf65 |
Early onset. Complicated: polyneuropathy and optic atrophy. |
SPG56
|
CYP2U1
4q.25 |
CYP2U1 |
Early onset, spasticity of four limbs, polyneuropathy. |
SPOAN
|
Gene unknown 11q13 |
Gene unknown |
Early onset, spastic paraplegia, optic atrophy and axonal neuropathy. |