| Rett syndrome |
MECP2 mutation |
reduced spine density, reduced dendritic complexity and maturation |
Belichenko et al., 1994; Amir et al., 1999; Moretti et al., 2006; Smrt et al., 2007
|
| fragile X syndrome |
FMR1 protein deficiency |
increased spine density, abnormal spine morphology |
Hinton et al., 1991; Wisniewski et al., 1991; Comery et al., 1997; Irwin et al., 2001
|
| Angelman syndrome |
chromosome 15q11–q13, UBE3A |
reduced spine density, abnormal spines, small RNA pathway |
Miura et al., 2002; Lalande and Calciano, 2007; Ding et al., 2008
|
| Prader–Willi syndrome |
chromosome 15q11–q13 |
autism, reduced cognitive ability |
Battaglia, 2005; Sahoo et al., 2008
|
| Down's syndrome |
chromosome 21 trisomy |
reduced spine density, reduced dendritic complexity |
Marin-Padilla, 1972, 1976; Suetsugu and Mehraein, 1980; Takashima et al., 1981; Ferrer and Gullotta, 1990; Takashima et al., 1994
|
| Lafora disease |
EPM2 mutation |
reduced spine density |
Busardz et al., 1987 |
| Patau syndrome |
chromosome 13 trisomy |
abnormal spine morphology |
Marin-Padilla, 1972 |
| tuberous sclerosis |
mutations of TSC1 or TCS2 genes |
reduced spine density, abnormal spine morphology |
Machado-Salas, 1984 |
| Niemann–Pick disease |
deficiency of sphingomyelinase |
reduced spine density, reduced dendritic complexity |
Walkley and Baker, 1984; Higashi et al., 1993; Sarna et al., 2003
|
| Potocki–Lupski syndrome |
duplications of 17p11.2 |
autism |
Potocki et al., 2007 |
| Smith–Magenis syndrome |
chromosome 17p11.2, RA11 mutations |
autism, abnormal brain anatomy |
Slager et al., 2003; Elsea and Girirajan, 2008
|
| Williams–Beuren syndrome |
7q11.23 (CYLN2, LIMK1, FZD9) |
reduced brain volume, altered spine morphology |
Hoogenraad et al., 2002; Meng et al., 2002; Zhao et al., 2005; Berg et al., 2007; Lim et al., 2007
|
| 22q11.2 deletion syndrome and DiGeorge syndrome |
deletion of 22q11.2, DGCR8 |
miRNA pathway, autism, smaller spines, smaller dendrites |
Lee and Lupski, 2006; Gothelf et al., 2007; Kobrynski and Sullivan, 2007; Stark et al., 2008
|
