Gerhard Neuhäuser

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

We report clinical and molecular studies on a large American family of Norwegian descent with X‐linked nonprogressive congenital ataxia (XCA) in six affected males over three generations. Neuroimaging showed global cerebellar hypoplasia without evidence of supratentorial anomalies. Linkage analysis resulted in a maximum LOD score Z = 3.44 for marker DXS1192 at θ = 0.0 with flanking markers DXS1047 and DXS1227 defining a region of 12 cM in Xq25‐q27.1. The clinical and neuroradiological findings in the present family are very similar to those described in two reported X‐linked families [Illarioshkin et al., 1996; Bertini et al., 2000]; however, the newly identified locus does not overlap with the one defined previously, indicating that there are at least two genes responsible for this rare form of X‐linked congenital cerebellar ataxia with normal intelligence.

Development of Infants “At Risk” and Psychosocial Conditions: Results of a Prospective Study

The development of infants “at risk” because of prenatal or perinatal complications or both is influenced not only by somatic factors, such as cerebral lesion or physical handicap, but also by psychosocial variables. During a prospective study of children from the neonatal intensive ward, neuromotor and intellectual abilities were assessed and socioeconomic as well as psychosocial variables were analyzed. The development of children was influenced by family relationships and parental interactions; different types of families could be characterized, and there were different developmental courses in regard to neurological findings and family dynamics as well. The results have implications for planning measures of early intervention — it is necessary to provide help not only for children but also for their parents and their families to encourage integration and normalization.