{
  "abstract": "Background/Objectives Spinocerebellar Ataxia 27B (SCA27B) is a recently identified autosomal dominant cause of idiopathic late-onset cerebellar ataxia (ILOCA). It is caused by a GAA triplet repeat expansion in the intron of the FGF14 (fibroblast growth factor-14) gene. Screening of cohorts with ILOCA has found high proportions of patients with SCA27B. We aim to identify the prevalence of SCA27B in a New Zealand cohort with ILOCA.Methods This clinical audit did not require ethics approval after review by our local ethics committee. Neurology patients from our department who had genetic testing were selected from laboratory records. Patients with a negative spinocerebellar ataxia (SCA) panel in the past six years were identified. Clinicians then ordered an updated ataxia panel if clinically appropriate. We audited these results.Results Our audit identified 39 patients [mean age in years (95% CI) = 65.2 (+/- 7.0), age range in years = 21–87, 20 female] who had negative SCA panels in the past six years. 34 had an updated ataxia panel requested by their clinician. 30% of those tested were positive for SCA27B [mean age in years (95% CI) = 72.8 (+/- 5.1), age range in years = 69–80], and 10% positive for other diseases. We have summarised the clinical and radiological features of our SCA27B Cohort.Conclusions/Decision SCA27B is a common cause of ILOCA. Our study highlights the importance of updated genetic testing in these patients as it has a high yield for SCA27B and other conditions.",
  "authors": [
    {
      "affiliations": [
        "Department of Neurology, Auckland City Hospital, Auckland, New Zealand"
      ],
      "name": "Sarah Anderson"
    },
    {
      "affiliations": [
        "Department of Neurology, Auckland City Hospital, Auckland, New Zealand"
      ],
      "name": "Shilpan Patel"
    },
    {
      "affiliations": [
        "Department of Neurology, Auckland City Hospital, Auckland, New Zealand"
      ],
      "name": "Miriam Rodrigues"
    },
    {
      "affiliations": [
        "Department of Neurology, Auckland City Hospital, Auckland, New Zealand"
      ],
      "name": "Mark Simpson"
    }
  ],
  "title": "YI3 Characteristics of a newly described SCA27B cohort in New Zealand",
  "uid": "661d5a8c-02f5-5813-ad29-e22c496f8ff4"
}