Gene: [0Xq28/L1CAM] L1 cell adhesion molecule; hydrocephalus, stenosis of the aqueduct of sylvius (MIM:307000); MASA (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome (MIM:303350); Gareis-Mason syndrome (MIM:303350); spastic paraplegia, complicated (MIM:312900); [HSAS MASA ]
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PAT |
Hereditary spastic paraplegia is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons." |
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CAG |
GEM:0Xq28/L1CAM (SPG1); GEM:0Xq2/PLP (SPG2); GEM:14q/SPG3A; GEM:00.0/SPG3B; GEM:02p2/SPG4; GEM:08^/SPG5A; GEM:00.0/SPG5B; GEM:15q111/SPG6; GEM:16q243/PGN (SPG7)." |
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REF |
PRO,LOC,EVO,LIN,EXP "Djabali &: CCG, 51, (HGM10), 991, 1989 ABR,CAG "Jouet M &: AJHG, 56, 1304-1314, 1995 ABR,CAG "Jouet M &: Nature Genet, 7, 402-407, 1994 ABR,CAG "Jouet M &: Nature Genet, 4, 331, 1993 LOC,LIN,MOL "Mattei &: CCG, 51, (HGM10), 1041-1042, 1989 ABR,CAG "Rosenthal A &: Nature Genet, 2, 107-112, 1992 PAT "Ulku &: Acta Neurol Scand, 83, N6, 403-406, 1991 LOC,LIN "Willems PJ &: AJHG, 51, N2, 307-315, 1992 |
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KEY |
mem, recp, neu, devd, myo |
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CLA |
coding, basic |
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LOC |
0X q28 |
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MIM |
MIM: 308840 |
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SYN |
HSAS MASA |
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