An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
Author: Rajab A, Yoo SY, Abdulgalil A, Kathiri S, Ahmed R, Mochida GH, Bodell A, Barkovich AJ, Walsh CA.
Source:
American journal of medical genetics part A, 140(14), 1504-1510.
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 dysarthriThere was phenotypic variability among
different individuals, but spastic diplegia, microcephaly, and mental retardation
were three constant traits present in all affected individuals