Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus.

BACKGROUND: Most patients with pure nonprogressive congenital cerebellar ataxia have a sporadic form of unknown heredity and etiology. Several small families have been reported with a dominantly inherited nonprogressive congenital ataxia (NPCA). METHODS: The authors ascertained and clinically characterized a four-generation pedigree segregating an autosomal dominant type of congenital nonprogressive cerebellar ataxia associated with cognitive impairment. Following the exclusion of several SCA localizations (SCA-1, 2, 3, 4, 5, 6, 7, 8, 10, 12, 17, IOSCA, and DRPLA), a genome-wide linkage study was performed. RESULTS: Examination of the family showed that all affected members had gait ataxia and cognitive disability with variable features of dysarthria, dysmetria, dysdiadochokinesia, nystagmus, dystonic movements, and cerebellar hypoplasia on imaging. Clinical signs of pyramidal tract dysfunction and sensory changes were absent. A genome-wide search in this family detected linkage to chromosome 3p with a maximum two-point lod score of 4.26 at D3S3630. This localization to the pter is distal to D3S1304, as defined by a recombination event. This overlaps with the SCA15 locus, with the critical overlapping region between the microsatellite markers, D3S1304 and D3S1620 (approximately 8 cM). CONCLUSION: Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia overlaps with the SCA15 locus on chromosome 3pter.

Individual differences in story comprehension and recall of poor readers.

This study sought to identify poor readers and characterise weaknesses in their knowledge and use of story structure in comprehension and recall. Eighty year 3 children, 20 good readers and 60 poor readers, were selected from an initial pool of children based on factor analysis of scores from three measures of reading ability. The poor readers were then divided into relatively homogeneous subgroups, using eight additional measures of language-reading comprehension, according to a numerical classification procedure. This procedure helped identify specific weaknesses in their language-reading comprehension. All children listened to three stores and retold the stories under free and probe recall conditions. Story recalls were analysed using the STein and Glenn story grammar. Comparison of recalls between the good readers and each of the subgroups of poor readers showed that poor readers in two subgroups evidenced reduced sensitivity to story structure. The children in these subgroups recalled less of the stories overall, recalled less information from story grammar categories to varying extents, and showed patterns of category recall that differed from those of normal readers. Children in one of the subgroups also displayed poor perception of causal relations across story episode boundaries. These results provide evidence of marked heterogeneity in poor readers' story comprehension and recall. Certain subgroups of poor readers may have qualitatively different problems processing stories, relative to other poor readers, which may require a more concerted approach to instruction in story structure.

Headache and asthma.

The aim of this study was to investigate the association between headache and asthma, bronchodilators and atopy in school children. A cross-sectional survey of all primary school children was conducted in two towns near Newcastle, New South Wales, Australia; one in the vicinity of two coal-fired power stations, the other free of outdoor industrial air pollution. The main outcome measures were frequent headache, wheezing, bronchial reactivity, use of bronchodilators and atopy. Eight hundred and fifty-one primary school children aged 5-12 years participated (92% response rate). Twenty-three per cent of the children were reported to have had a history of frequent headache. Crude odds ratios indicated that the odds of frequent headache was significantly higher in children with asthma and atopy and where there was a smoker in the home, but that there was no association between frequent headache and use of bronchodilators or the sex of the child or socio-economic status measured as father's occupation. Stepwise logistic regression with frequent headache as the outcome of interest showed that, after adjusting for age and smoking in the home, the odds ratio for asthma (defined as current wheeze) was 3.24 (95% confidence interval [CI] 2.19-4.77). The similarly adjusted odds ratio for asthma defined as bronchial hyperreactivity (BHR) was 1.60 (95% CI 1.09-2.37). Atopy was not statistically significantly associated with headache for either model. Asthma (defined as wheeze or BHR) is an independent risk factor for frequent headache. The relationship between headache and asthma is an association with bronchial hyperresponsiveness rather than atopy.

Can head injury influence the site of demyelination in adrenoleukodystrophy?

Adrenoleukodystrophy is an inherited disorder, in which there is degeneration of white matter of the central nervous system. The disorder presents classically in males during the first decade, and although early clinical features may be asymmetrical, radiological and pathological features are essentially generalised. Two boys are reported with proven adrenoleukodystrophy, who at first had focal clinical and radiological features, with the foci in the region of local trauma. This raises the possibility that a local insult may have precipitated or hastened the degenerative process.

Empty-sella syndrome. Occurrence in childhood.

Primary empty-sella syndrome has been rarely reported in childhood. Substantial visual disturbance was accompanied by minimal endocrine dysfunction in an 8-year-old girl whose only other complaint was headache. This syndrome in children is associated with more dramatic signs and symptoms than have been reported for adults and may be associated with progressive destruction of pituitary reserve.