Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis. CHAC encodes a large, novel protein with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence in CHAC were screened for mutations by denaturing high-performance liquid chromatography in 43 probands with ChAc. We identified 57 different mutations, 54 of which have not previously been reported, in 39 probands. The novel mutations comprise 15 nonsense, 22 insertion/ deletion, 15 splice-site and two missense mutations and are distributed throughout the CHAC gene. Three mutations were found in multiple families within this or our previous study. The preponderance of mutations that are predicted to cause absence of gene product is consistent with the recessive inheritance of this disease. The high proportion of splice-site mutations found is probably a reflection of the large number of exons that comprise the CHAC gene. The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions described here appear to be pathogenic.

Summary :The burden of disease caused by the protozoan parasite Cryptosporidium is unknown. However, routine laboratory diagnosis and surveillance enables the basic epidemiology to be described, changes to be monitored and under-ascertainment to be measured. Although the two main species involved in human disease in developed countries, Cryptosporidium parvum and Cryptosporidium hominis, have differing epidemiologies and risk factors, national surveillance is generally from isolates identified to the genus level only. Enhancing the data by typing, at least to identify the isolates to the species level, removes some of the noise generated and better identifies the risks than when reports are not species-specific. This level of identification is also valuable for outbreak investigations, but further investigation of the population genetics of C. parvum and C. hominis is required for the development of more readily applied subtyping tools.

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In mid-February 2007, there was a small rise in the number of laboratory-notified cases of cryptosporidiosis in the city and county of Galway, Ireland in comparison to February 2006.

In October 2007 an increase in laboratory-confirmed cryptosporidiosis cases in Staffordshire, England prompted an outbreak investigation. Case ascertainment included interviewing suspected cases and contacts and obtaining faecal specimens from those with diarrhoea for laboratory identification. Over a three-month period we identified 57 cases of cryptosporidiosis (39 confirmed) distributed across 36 households. The majority of cases (69%) were younger than 20 years. The most plausible exposure was multiple swimming episodes (56% of cases) in 13 local public swimming pools. One large swimming pool was most frequently visited by swimmers and considered a significant contributor to transmission because of substandard filtration and maintenance systems. Control measures focused on inspecting and improving operating standards at swimming pools, hygiene information to swimmers, and early detection and exclusion of cases. The rapid case investigation described in this paper provided adequate information for the early detection and control of a typical seasonal swimming pool related cryptosporidiosis outbreak. Ensuring adequate filtration standards at public swimming pools particularly before the high use periods of late summer and autumn remains a priority.