RESUMEN
Hereditary sensory and autonomic neuropathy type IV (HSAN IV) or congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal-recessive disorder affecting the neurotrophin signal transduction pathway. HSAN IV is characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, self mutilating behaviour and frequent mental retardation. Mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1) are associated with this disorder. We investigated NTRK1 mutations in five HSAN IV patients and one less typical patient with hypohidrosis, insensitivity to pain as well as motor- and sensory deficits in the peripheral nervous system. For the HSAN IV patients we identified a homozygous missense mutation (p.I572S), a homozygous deletion of 1985bp (g.7335164-7336545del), a homozygous insertion c.722_723insC in exon 7 and two compound heterozygous mutations (p.Q558X+p.L717R). The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation.
Asunto(s)
Eliminación de Gen , Neuropatías Hereditarias Sensoriales y Autónomas/genética , Mutación Missense , Receptor trkA/genética , Secuencia de Aminoácidos , Niño , Preescolar , Femenino , Heterocigoto , Homocigoto , Humanos , Lactante , Masculino , Datos de Secuencia Molecular , Linaje , FenotipoRESUMEN
Attention-deficit/hyperactivity disorder (ADHD) is associated with unexplained impairments on speeded naming of coloured stimuli. These deficits may reflect hypofunctioning retinal dopaminergic mechanisms impairing particularly blue-yellow colour discrimination. Colour perception and rapid colour naming ability were investigated in 14 children with ADHD and 13 healthy peers matched for age, gender, and IQ, using the Farnsworth-Munsell 100 Hue Test (FMT) and the Stroop-Colour-Word test. Children with ADHD committed more errors on the FMT, particularly on discrimination of colours along the blue-yellow axis, and were slower on Stroop subtests involving colour naming. However, the latter deficit was accounted for similarly by blue-yellow and red-green discrimination abilities. Blue-yellow colour perception problems in ADHD contribute to but do not fully explain the observed slowed colour naming.