The α-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases

Jenny Vaughan; Alexandra Durr; Johann Tassin; Benjamin Bereznai; Thomas Gasser; Vincenzo Bonifati; Giuseppe De Michele; Edito Fabrizio; Gianpiero Volpe; O. Bandmann; William G. Johnson; Lawrence I. Golbe; Monique Breteler; Giuseppe Meco; Yves Agid; Alexis Brice; C. David Marsden; Nicholas W. Wood

doi:10.1002/ana.410440221

The α-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases

Jenny Vaughan, Alexandra Durr, Johann Tassin, Benjamin Bereznai, Thomas Gasser, Vincenzo Bonifati, Giuseppe De Michele, Edito Fabrizio, Gianpiero Volpe, O. Bandmann, William G. Johnson, Lawrence I. Golbe, Monique Breteler, Giuseppe Meco, Yves Agid, Alexis Brice, C. David Marsden, Nicholas W. Wood

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Abstract

We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the α-synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.

Original language	English (US)
Pages (from-to)	270-273
Number of pages	4
Journal	Annals of Neurology
Volume	44
Issue number	2
DOIs	https://doi.org/10.1002/ana.410440221
State	Published - Aug 1998

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

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Vaughan, J., Durr, A., Tassin, J., Bereznai, B., Gasser, T., Bonifati, V., De Michele, G., Fabrizio, E., Volpe, G., Bandmann, O., Johnson, W. G., Golbe, L. I., Breteler, M., Meco, G., Agid, Y., Brice, A., Marsden, C. D., & Wood, N. W. (1998). The α-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases. Annals of Neurology, 44(2), 270-273. https://doi.org/10.1002/ana.410440221

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title = "The α-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases",

abstract = "We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the α-synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.",

author = "Jenny Vaughan and Alexandra Durr and Johann Tassin and Benjamin Bereznai and Thomas Gasser and Vincenzo Bonifati and {De Michele}, Giuseppe and Edito Fabrizio and Gianpiero Volpe and O. Bandmann and Johnson, {William G.} and Golbe, {Lawrence I.} and Monique Breteler and Giuseppe Meco and Yves Agid and Alexis Brice and Marsden, {C. David} and Wood, {Nicholas W.}",

year = "1998",

month = aug,

doi = "10.1002/ana.410440221",

language = "English (US)",

volume = "44",

pages = "270--273",

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Vaughan, J, Durr, A, Tassin, J, Bereznai, B, Gasser, T, Bonifati, V, De Michele, G, Fabrizio, E, Volpe, G, Bandmann, O, Johnson, WG, Golbe, LI, Breteler, M, Meco, G, Agid, Y, Brice, A, Marsden, CD & Wood, NW 1998, 'The α-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases', Annals of Neurology, vol. 44, no. 2, pp. 270-273. https://doi.org/10.1002/ana.410440221

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T2 - A study of 230 European cases

AU - Vaughan, Jenny

AU - Durr, Alexandra

AU - Tassin, Johann

AU - Bereznai, Benjamin

AU - Gasser, Thomas

AU - Bonifati, Vincenzo

AU - De Michele, Giuseppe

AU - Fabrizio, Edito

AU - Volpe, Gianpiero

AU - Bandmann, O.

AU - Johnson, William G.

AU - Golbe, Lawrence I.

AU - Breteler, Monique

AU - Meco, Giuseppe

AU - Agid, Yves

AU - Brice, Alexis

AU - Marsden, C. David

AU - Wood, Nicholas W.

PY - 1998/8

Y1 - 1998/8

N2 - We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the α-synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.

AB - We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the α-synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.

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JF - Annals of Neurology

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ER -

The α-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases

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