[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia]. / CANVAS: Fallbericht einer neuen Repeat-Erkrankung mit spät beginnender Ataxie.

This article presents the case of a 74-year-old female patient who first developed a progressive disease with sensory neuropathy, cerebellar ataxia and bilateral vestibulopathy at the age of 60 years. The family history was unremarkable. Magnetic resonance imaging (MRI) showed atrophy of the cerebellum predominantly in the vermis and atrophy of the spinal cord. The patient was given the syndromic diagnosis of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In 2019 the underlying genetic cause of CANVAS was discovered to be an intronic repeat expansion in the RFC1 gene with autosomal recessive inheritance. The patient exhibited the full clinical picture of CANVAS and was tested positive for this repeat expansion on both alleles. The CANVAS is a relatively frequent cause of late-onset hereditary ataxia (estimated prevalence 5­13/100,000). In contrast to the present patient, the full clinical picture is not always present. Therefore, testing for the RFC1 gene expansion is recommended in the work-up of patients with otherwise unexplained late-onset sporadic ataxia. As intronic repeat expansions cannot be identified by next generation sequencing methods, specific testing is necessary.

Outbreak of E. coli O157:H7 Infections Associated with Exposure to Animal Manure in a Rural Community - Arizona and Utah, June-July 2017.

On June 26, 2017, a hospital in southern Utah notified the Utah Department of Health of Shiga toxin-producing Escherichia coli (STEC) O157:H7 infections in two children from a small community on the Arizona-Utah border. Both children developed hemolytic uremic syndrome, characterized by hemolytic anemia, acute kidney failure, and thrombocytopenia and died within a few days of illness onset. Over the next few days, several more STEC-associated illnesses were reported in residents of the community. A joint investigation by local and state health agencies from Arizona and Utah and CDC was initiated to identify the outbreak source and prevent additional cases; a total of 12 cases were identified, including the two children who died. Investigators initially explored multiple potential sources of illness; epidemiologic and environmental information revealed cow manure contact as the likely initial cause of the outbreak, which was followed by subsequent person-to-person transmission. One of the outbreak strains was isolated from bull and horse manure collected from a yard near a community household with two ill children. Local health agencies made recommendations to the public related to both animal contact and hand hygiene to reduce the risk for STEC transmission. Animal or animal manure contact should be considered a potential source of STEC O157:H7 during outbreaks in communities where ruminants are kept near the home.