You are here

Article Text

Article menu
Download PDFPDF
Letter
Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease
  1. Y Hellenbroich1,3,
  2. W Schulz-Schaeffer2,
  3. M F Nitschke3,
  4. J Köhnke4,
  5. G Händler5,
  6. K Bürk6,
  7. E Schwinger7,
  8. C Zühlke7
  1. 1Institute of Human Genetics, University of Lübeck, Germany
  2. 2Department of Neuropathology, University of Göttingen, Germany
  3. 3Department of Neurology, University of Lübeck
  4. 4Institute of Human Genetics, University of Lübeck
  5. 5Department of Radiology, University of Lübeck
  6. 6Department of Neurology, University of Tübingen, Germany
  7. 7Institute of Human Genetics, University of Lübeck
  1. Correspondence to:
 Dr Y Hellenbroich
 Institute of Human Genetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany; hellenbroichgmx.de

https://doi.org/10.1136/jnnp.2003.028381

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    The spinocerebellar ataxias (SCAs) are a group of autosomal dominant inherited neurodegenerative disorders characterised by progressive cerebellar dysfunction. Besides cerebellar manifestations a variety of associated neurological signs, such as ophthalmoplegia, dementia, or pyramidal and extrapyramidal signs may occur. At least 21 loci for SCAs including 11 different genes have been identified. SCA 1, 2, 3, 6, 7, and 17 are caused by expansion of a translated CAG repeat in the corresponding gene leading to an expanded polyglutamine tract in the translated protein. In contrast, Holmes and colleagues1 recently described a large pedigree with a new form of autosomal dominant ataxia (SCA12) associated with an expanded CAG tract in the 5′ untranslated region of the gene PPP2R2B, encoding a brain specific regulatory subunit of protein phosphatase PP2A. Clinical findings in SCA12 patients include upper extremity tremor, cerebellar signs and late onset dementia.2

    We report on a patient with Creutzfeld-Jakob disease (CJD) carrying a 49 CAG repeat at the SCA12 locus. Additionally, we analysed a large sample of sporadic and hereditary ataxia patients for SCA12 mutations.

    A 57 year old man of German origin presented subacutely with gait ataxia and a striking action tremor. Shortly after disease onset, his wife also noticed dysarthria. There was no evidence …

    View Full Text