An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
Cerebral palsy (CP) is defined as any nonprogressive motor deficits resulting from cerebral abnormalities that occur in the prenatal or perinatal period. Symptoms become apparent during the first year of life. Genetic forms of CP account for about 2% in European populations but are thought to cause a substantial proportion in consanguineous families. We have identified a large consanguineous family from Oman with spastic diplegia, microcephaly, and mental retardation. Additional manifestations include hyperreflexia, clumsiness, unstable gait, drooling, and dysarthria. There was phenotypic variability among different individuals, but spastic diplegia, microcephaly, and mental retardation were three constant traits present in all affected individuals.
Rajab
Anna
A
Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman.
Yoo
Seung-Yun
SY
Abdulgalil
Aiman
A
Kathiri
Salem
S
Ahmed
Riaz
R
Mochida
Ganeshwaran H
GH
Bodell
Adria
A
Barkovich
A James
AJ
Walsh
Christopher A
CA
D000293:Adolescent; D002547:Cerebral Palsy / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D009850:Oman; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome