This disorder causes serious forms of mental retardation.
Mutations in regulators and effectors of the Rho GTPases underlie various forms of mental retardation (MR).
Many forms of mental retardation and cognitive disability are associated with abnormalities in dendritic spine morphology.
The finding could help researchers identify new drug targets for Fragile X and Angelman syndromes — inherited forms of mental retardation that have been linked to deficits of Arc.
June 13 , 1926Montrouge, France April 3 , 1994Paris, France Jérôme-Jean-Louis-Marie Lejeune, (born June 13 , 1926 Montrouge, France died April 3 , 1994 Paris, France), French geneticist who, identified (1959) the human chromosomal abnormality linked to Down syndrome, or trisomy 21, one of the most common forms of mental retardation and the first chromosomal disorder to be positively identified.
Mutations in the human ortholog cause different forms of mental retardation, like the MASA syndrome/spastic paraplegia type 1 (# 303350) and Hydrocephalus (# 30700).
Among others, this group also included individuals with more severe forms of mental retardation requiring support from health and social services.
Moreover, these data provide the rationale for investigations aimed to analyse the possible involvement of GRAF1/OPHN-1-L gene in other forms of mental retardation.
Trinucleotide repeat expansions are causative factors for several disorders, including several forms of mental retardation, spinocerebellar ataxias (SCA) and Huntington's disease (HD).
Besides effects on skeletal muscle integrity, abnormalities in dystrophin are also linked to nonprogressive forms of mental retardation [ 24, 25], scoliosis [ 26, 27], impaired respiratory function [ 28, 29], and cardiomyopathic complications [ 30, 31].
