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An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation
Author(s) -
Rajab Anna,
Yoo SeungYun,
Abdulgalil Aiman,
Kathiri Salem,
Ahmed Riaz,
Mochida Ganeshwaran H.,
Bodell Adria,
Barkovich A. James,
Walsh Christopher A.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31288
Subject(s) - microcephaly , spastic diplegia , cerebral palsy , hyperreflexia , pediatrics , medicine , dysarthria , spastic , diplegia , spastic quadriplegia , physical medicine and rehabilitation , psychology , audiology , surgery
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. © 2006 Wiley‐Liss, Inc.