Familial polymicrogyria
| Reference | Syndrome | Fam | Cons | Aff | M | F | Includes | Inheritance (most likely) | Locus | Gene | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AD, autosomal dominant; Aff, number affected; AR, autosomal recessive; BFPP, bilateral frontoparietal polymicrogyria; BGP, bilateral generalized polymicrogyria; BPP, bilateral perisylvian polymicrogyria; Cons, number of consanguineous families; D, dominant; DM, dermatomyositis; DP, decreased penetrance; F, female; Fam, number of families; M, male; PCI, paracrystalline inclusions; PMG, polymicrogyria; PsD, pseudodominance; R, recessive; UFPP, unilateral frontoparietal polymicrogyria; UPP, unilateral perisylvian polymicrogyria. | |||||||||||
| A Bilateral frontoparietal PMG (BFPP) | |||||||||||
| Harbord et al68 | Neuronal migration abnormality | 1 | – | 2 | – | 2 | AR | ||||
| Dobyns et al35 | Cobblestone lissencephaly | 2 | 2 | 3 | 2 | 1 | AR | ||||
| Straussberg et al3 | Pachygyria | 1 | 1 | 3 | 1 | 2 | AR | ||||
| Farah et al69 | LIS + cerebellar hypoplasia | 1 | 1 | 3 | 1 | 2 | AR | ||||
| Piao et al27 | BFPP | 2 | 2 | 5 | 2 | 3 | Ref 5 | AR | 16q12.2–21 | ||
| Chang et al28 | BFPP | 10 | 8 | 19 | 8 | 11 | All previous | AR | 16q12.2–21 | ||
| Piao et al13 | BFPP | 12 | 9 | 22 | ? | ? | All previous | AR | 16q12.2–21 | GPR56 | |
| B Bilateral perisylvian PMG (BPP) | |||||||||||
| Graff-Radford et al57 | BPP | 1 | – | 2 | 2 | – | Monozygotic twins | ||||
| Robinson et al4 | Familial schizencephaly | 1 | – | 2 | 1 | 1 | AR or X linked (sibs) | ||||
| Kuzniecky et al29 (1) | BPP | 1 | – | 2 | 2 | – | Ref 57 | Monozygotic twins | |||
| Kuzniecky et al29 (2) | BPP | 1 | – | 3 | 2 | 1 | X linked | ||||
| Gropman et al45 | BPP | 1 | – | 2 | ? | ? | AR or X linked (sibs) | ||||
| Yoshimura et al58 | BPP | 1 | – | 4 | 3 | 1 | X linked | ||||
| van Bogaert et al59 | BPP (1), UPP (1) | 1 | – | 2 | 1 | 1 | AR or X linked (sibs) | ||||
| Bartolomei et al60 | BPP (1), UPP (1) | 1 | – | 2 | 0 | 2 | AR or X linked (sibs) | ||||
| Borgatti et al40 | BPP | 1 | – | 6 | 1 | 5 | X linked | ||||
| Barkovich et al30 | BPP | 1 | ? | 3 | ? | ? | D or R? | ||||
| Guerreiro et al41 | BPP | 6 | – | 18 | 7 | 11 | Ref 29 and 40 | X linked | |||
| 4 | – | 8 | 6 | 2 | Ref 59 and 60 | AR or X linked (sibs) | |||||
| 1 | – | 1 | 1 | – | AD with DP | ||||||
| 1 | – | 4 | 1 | 3 | AR with PsD | ||||||
| Villard et al61 | BPP | 5 | – | 13 | 12 | 1 | X linked | Xq28 | |||
| Brandao-Almeida et al62 | BPP | 3 | – | 17 | 14 | 3 | AD | ||||
| 2 | – | 11 | 8 | 3 | AD or X linked | ||||||
| 1 | 1 | 2 | – | 2 | AR with PsD | ||||||
| C Bilateral generalised PMG (BGP) | |||||||||||
| Chang et al32 | BGP | 3 | 1 | 8 | 4 | 4 | Ref 64 | AR | |||
| 1 | – | 2 | 1 | ? | AR | ||||||
| 1 | 1 | 1 | – | 1 | AR | ||||||
| D Bilateral frontal PMG (BFP) | |||||||||||
| Guerrini et al25 | BFP | 2 | 2 | 2 | 2 | – | AR | ||||
| E Unilateral frontoparietal PMG (UFPP) | |||||||||||
| Caraballo et al63 | UFPP | 1 | – | 2 | 1 | 1 | X linked or AD | ||||
| F Mixed PMG syndromes (BGP + BFPP) | |||||||||||
| Hung and Wang52 | BGP and BFPP | 1 | – | 3 | 2 | 1 | AR or X linked (sibs) | ||||
| G Familial PMG associated with congenital malformations | |||||||||||
| De Bleecker et al64 | Polymicrogyria + DM with PCI | 1 | – | 2 | – | 2 | AR or X linked (sibs) | ||||
| Amor et al65 | BGP + scalp and limb defects | 1 | 1 | 2 | 1 | 1 | AR | ||||
| Ciardo et al66 | BGP + limb defects | 1 | – | 2 | 1 | 1 | AR or X linked (sibs) | ||||