Capitolo 36 |
Paraparesi spastiche ereditarie
542
Tabella 36.1
| Loci genici delle paraparesi spastiche ereditarie
Locus
Ereditarietà/Tipo Localizzazione Gene
Proteina
OMIM ID
SPG1 X-legata/complicata Xq28
L1CAM
Molecola L1 di adesione cellu-
lare neurale
303350
SPG2 X-legata/complicata Xq22
PLP1
Proteina proteolipidica 1
312920
SPG3A AD/pura e complicata 14q22.1
ATL1
Atlastina-1
182600
SPG4 AD/pura e complicata 2p24-p21
SPAST
Spastina
182601
SPG5A AR/pura
8q21.3
CYP7B1
25-idrossicolesterolo 7-alfa-
idrossilasi
270800
SPG6 AD/pura
15q11.2
NIPA1
Trasportatore del magnesio
NIPA1
600363
SPG7 AR/pura e complicata 16q24.3
SPG7
Paraplegina
607259
SPG8 AD/pura
8q24.13
K1AA0196
Complesso WASH subunità
strumpellina
603563
SPG9 AD/complicata
10q23.3-q24.2 — —
601162
SPG10 AD/pura e complicata 12q13.13
K1F5A
Isoforma 5A della catena pe-
sante della chinesina
604187
SPG11 AR/pura o complicata 15q13-q15
SPG11
Spatacsina
604360
SPG12 AD/pura
19q13
RTN2
Reticulone-2
604805
SPG13 AD/pura
2q33.1
HSPD1
Heat shock protein mitocon-
driale 60 kDa
605280
SPG14 AR/complicata
3q27-q28
— —
605229
SPG15 AR/complicata
14q23.3
ZFYVE26
Dominio FYVE zinc finger-con-
tenente della proteina 26 (spa-
stizina)
270700
SPG16 X-legata/pura e com-
plicata
Xq11.2
— —
300266
SPG17 AD/complicata
11q13
BSCL2
Seipina
270685
SPG18 AR/complicata
8p11.2
ERLIN2
Erlina-2
611225
SPG19 AD/pura
9q33-q34
— —
607152
SPG20 AR/complicata
13q13.1
SPG20
Spartina
275900
SPG21 AR/complicata
15q21-q22
SPG21
Maspardina
248900
SPG22 X-legata/complicata Xq13.2
SLC16A2
Trasportatore 8 del monocar-
bossilato
300523
SPG23 AR/complicata
1q24-q32
— —
270750
SPG24 AR/pura
13q14
— —
607584
SPG25 AR/complicata
6q23-q24.1 — —
608220
SPG26 AR/complicata
12p11.1-q14 — —
609195
SPG27 AR/pura e complicata 10q22.1-q24.1 — —
609041
