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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
The frequency of spinocerebellar ataxia type 23 in a UK population
Journal of Neurology, Volume 260, No. 3, Year 2013
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Description
Spinocerebellar ataxias (SCA) are a genetically heterogeneous group of neurodegenerative diseases characterised by progressive cerebellar ataxia, dysarthria and oculomotor abnormalities. Recently the prodynorphin (PDYN) gene was identified as the cause of SCA23 in four Dutch families displaying progressive gait and limb ataxia. In this study we aimed to assess the frequency of PDYN gene defects and extend the phenotype of SCA23 patients in a UK ataxia series and also in patients from Greece, Egypt and India. We sequenced the coding and flanking intronic regions of the PDYN gene in a total of 852 ataxia patients, of which 356 were sporadic with no family history, 320 had a positive family history, and 176 probands had a positive family history and at least one family member had also been investigated. We also analysed 190 patients with multiple-system atrophy with cerebellar features (MSA-C), a phenocopy of SCA23. We identified a novel putative pathogenic heterozygous missense variant in the PDYN gene in an early onset SCA patient with an unknown family history. This variant was not present in 570 matched British controls. This is the first study to screen for SCA23 in UK patients and confirms that PDYN mutations are a very rare cause of spinocerebellar ataxia, accounting for ~ 0.1 % of ataxia cases but perhaps with a higher frequency in pure cerebellar ataxia. Given the rarity of PDYN mutations, front-line diagnostic evaluation of UK familial and early onset pure spinocerebellar ataxia patients should focus on other known ataxia genes. © 2012 Springer-Verlag Berlin Heidelberg.
Authors & Co-Authors
Fawcett, Katherine
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Mehrabian, Mohadeseh
Canada, Toronto
Tanz Centre for Research in Neurodegenerative Diseases
Liu, Yotsen
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Taiwan, Taipei
Taipei Veterans General Hospital
Taiwan, Taipei
National Yang-ming University Taiwan
Hamed, Sherifa Ahmed
Iran, Tehran
University of Tehran
Elahi, Elahe
Egypt, Cairo
Faculty of Medicine
Revesz, Tamas R.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Koutsis, Georgios
Greece, Athens
School of Medicine
Herscheson, Joshua
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Schottlaender, Lucía V.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Wardle, Mark
United Kingdom, Cardiff
Cardiff University School of Medicine
Morrison, Patrick J.
United Kingdom, Belfast
School of Medicine, Dentistry and Biomedical Sciences
Morris, Huw R.
United Kingdom, Cardiff
Cardiff University School of Medicine
Giunti, Paola
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Wood, Nick William
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Houlden, Henry H.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Statistics
Citations: 15
Authors: 15
Affiliations: 9
Identifiers
Doi:
10.1007/s00415-012-6721-1
ISSN:
03405354
e-ISSN:
14321459
Research Areas
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study
Study Locations
Egypt