Arena syndrome is caused by a missense mutation in PLP1.

摘要

Arena et al. [1992] described a family with X-linked mental retardation, spastic paraplegia, and decreased T2 MRI signal in the basal ganglia and thalamus suggesting iron deposition. Five males in two generations were affected. The craniofacial appearance was normal, but the lower limbs were underdeveloped and spastic. All had severe cognitive deficit, absent or dysarthric speech and impaired ambulation requiring wheelchairs from childhood. Nystagmus, dystonic posturing, and ataxia of varying severity were present. The upper limbs were minimally involved. In addition to the decreased T2 MRI signal in the basal ganglia and thalamus, there was cortical macrogyria, white matter hypoplasia, lack of myelini-zation and hypoplasia of the cerebellum and brainstem. Suggestive linkage (lod score 1.9) was found to Xq22-q25.