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A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

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Abstract

The P56S mutation in the VAPB gene causes ALS8. Eight families, comprising more than 1,500 individuals of whom about 200 are affected, are now known to carry this mutation. Seven are of Portuguese–Brazilian ancestry and one of African–Brazilian ancestry. Haplotype analysis shows a common founder for all families regardless of ancestry, with a founding event 23 generations ago (95% CI 13–39), consistent with the Portuguese colonization of Brazil.

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Acknowledgements

The authors thank Miguel Mitne-Neto, Monize Lazar, Constancia Urbani, Natale Cavaçana, David Schlesinger, Dr. Helga C. A. Silva, Patrícia Arashiro, Antonia M P Cerqueira, Roberto Rivelino, Marta Canovas, Kátia Rocha, Dr. Maria Rita Passos-Bueno and her group. This research was supported by FAPESP-CEPID, CNPq.

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Authors and Affiliations

  1. Department of Neurology, Institute of Psychiatry, King’s College London, SE5, 8AF, London, UK

    Ammar Al-Chalabi

  2. Dr. Mayana Zatz. Human Genome Research Center, Biosciences Institute, University of São Paulo, Rua do Matão, 277, sala 211, Cidade Universitària, São Paulo, Brazil, CEP 05508-090

    Agnes L. Nishimura & Mayana Zatz

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  1. Agnes L. Nishimura
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  2. Ammar Al-Chalabi
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  3. Mayana Zatz
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Correspondence to Mayana Zatz.

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Agnes L. Nishimura, Ammar Al-Chalabi contributed equally to this work

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Nishimura, A.L., Al-Chalabi, A. & Zatz, M. A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum Genet 118, 499–500 (2005). https://doi.org/10.1007/s00439-005-0031-y

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  • DOI: https://doi.org/10.1007/s00439-005-0031-y

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