Characteristics of Individuals at Risk for Spinocerebellar Ataxia

J Gordon Millichap

doi:10.15844/pedneurbriefs-27-8-6

Characteristics of Individuals at Risk for Spinocerebellar Ataxia

Pediatric Neurology Briefs

Volume 27 (2013): Issue 8

By: J Gordon Millichap

Open Access

|Aug 2013

Abstract

Investigators at University Hospital of Bonn and 13 other centers in Germany, France, and Italy conducted a prospective, longitudinal observational study (2008-2011) of offspring or siblings of patients with spinocerebellar ataxias (SCA)-1, 2, 3, and 6.

References

Jacobi H Reetz K du Montcel ST Bauer P Mariotti C Nanetti L Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data Lancet Neurol 2013 Jul 12 7 650 8 10.1016/S1474-4422(13)70104-2 23707147
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Dündar H Ozgül RK Yalnızoğlu D Erdem S Oğuz KK Tuncel D Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing Pediatr Neurol 2012 Mar 46 3 172 7 10.1016/j.pediatrneurol.2011.12.006 22353293
Open DOI Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-27-8-6 | Journal eISSN: 2166-6482

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Language: English

Page range: 61 - 62

Published on: Aug 1, 2013

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Spinocerebellar Ataxias,

Mutation Carriers,

RISCA Study

© 2013 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 27 (2013): Issue 8