Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes

J. C. Schymick; Y. Yang; P. M. Andersen; J. P. Vonsattel; M. Greenway; P. Momeni; J. Elder; A. Chiò; G. Restagno; W. Robberecht; C. Dahlberg; O. Mukherjee; A. Goate; N. Graff-Radford; R. J. Caselli; M. Hutton; J. Gass; A. Cannon; R. Rademakers; A. B. Singleton; O. Hardiman; J. Rothstein; J. Hardy; Bryan J. Traynor

doi:10.1136/jnnp.2006.109553

Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes

J. C. Schymick, Y. Yang, P. M. Andersen, J. P. Vonsattel, M. Greenway, P. Momeni, J. Elder, A. Chiò, G. Restagno, W. Robberecht, C. Dahlberg, O. Mukherjee, A. Goate, N. Graff-Radford, R. J. Caselli, M. Hutton, J. Gass, A. Cannon, R. Rademakers, A. B. SingletonO. Hardiman, J. Rothstein, J. Hardy, Bryan J. Traynor

Research output: Contribution to journal › Article › peer-review

108 Scopus citations

Abstract

Objective: Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD). Clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) and FTD prompted us to screen PGRN in patients with ALS and ALS-FTD. Methods: The PGRN gene was sequenced in 272 cases of sporadic ALS, 40 cases of familial ALS and in 49 patients with ALS-FTD. Results: Missense changes were identified in an ALS-FTD patient (p.S120Y) and in a single case of limb onset sporadic ALS (p.T182M), although the pathogenicity of these variants remains unclear. Conclusion: PGRN mutations are not a common cause of ALS phenotypes.

Original language	English (US)
Pages (from-to)	754-756
Number of pages	3
Journal	Journal of Neurology, Neurosurgery and Psychiatry
Volume	78
Issue number	7
DOIs	https://doi.org/10.1136/jnnp.2006.109553
State	Published - Jul 2007

ASJC Scopus subject areas

Surgery
Clinical Neurology
Psychiatry and Mental health

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Schymick, J. C., Yang, Y., Andersen, P. M., Vonsattel, J. P., Greenway, M., Momeni, P., Elder, J., Chiò, A., Restagno, G., Robberecht, W., Dahlberg, C., Mukherjee, O., Goate, A., Graff-Radford, N., Caselli, R. J., Hutton, M., Gass, J., Cannon, A., Rademakers, R., ... Traynor, B. J. (2007). Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. Journal of Neurology, Neurosurgery and Psychiatry, 78(7), 754-756. https://doi.org/10.1136/jnnp.2006.109553

Schymick, JC, Yang, Y, Andersen, PM, Vonsattel, JP, Greenway, M, Momeni, P, Elder, J, Chiò, A, Restagno, G, Robberecht, W, Dahlberg, C, Mukherjee, O, Goate, A, Graff-Radford, N , Caselli, RJ, Hutton, M, Gass, J, Cannon, A, Rademakers, R, Singleton, AB, Hardiman, O, Rothstein, J, Hardy, J & Traynor, BJ 2007, 'Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes', Journal of Neurology, Neurosurgery and Psychiatry, vol. 78, no. 7, pp. 754-756. https://doi.org/10.1136/jnnp.2006.109553

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title = "Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes",

abstract = "Objective: Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD). Clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) and FTD prompted us to screen PGRN in patients with ALS and ALS-FTD. Methods: The PGRN gene was sequenced in 272 cases of sporadic ALS, 40 cases of familial ALS and in 49 patients with ALS-FTD. Results: Missense changes were identified in an ALS-FTD patient (p.S120Y) and in a single case of limb onset sporadic ALS (p.T182M), although the pathogenicity of these variants remains unclear. Conclusion: PGRN mutations are not a common cause of ALS phenotypes.",

author = "Schymick, {J. C.} and Y. Yang and Andersen, {P. M.} and Vonsattel, {J. P.} and M. Greenway and P. Momeni and J. Elder and A. Chi{\`o} and G. Restagno and W. Robberecht and C. Dahlberg and O. Mukherjee and A. Goate and N. Graff-Radford and Caselli, {R. J.} and M. Hutton and J. Gass and A. Cannon and R. Rademakers and Singleton, {A. B.} and O. Hardiman and J. Rothstein and J. Hardy and Traynor, {Bryan J.}",

year = "2007",

month = jul,

doi = "10.1136/jnnp.2006.109553",

language = "English (US)",

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T1 - Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes

AU - Schymick, J. C.

AU - Yang, Y.

AU - Andersen, P. M.

AU - Vonsattel, J. P.

AU - Greenway, M.

AU - Momeni, P.

AU - Elder, J.

AU - Chiò, A.

AU - Restagno, G.

AU - Robberecht, W.

AU - Dahlberg, C.

AU - Mukherjee, O.

AU - Goate, A.

AU - Graff-Radford, N.

AU - Caselli, R. J.

AU - Hutton, M.

AU - Gass, J.

AU - Cannon, A.

AU - Rademakers, R.

AU - Singleton, A. B.

AU - Hardiman, O.

AU - Rothstein, J.

AU - Hardy, J.

AU - Traynor, Bryan J.

PY - 2007/7

Y1 - 2007/7

N2 - Objective: Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD). Clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) and FTD prompted us to screen PGRN in patients with ALS and ALS-FTD. Methods: The PGRN gene was sequenced in 272 cases of sporadic ALS, 40 cases of familial ALS and in 49 patients with ALS-FTD. Results: Missense changes were identified in an ALS-FTD patient (p.S120Y) and in a single case of limb onset sporadic ALS (p.T182M), although the pathogenicity of these variants remains unclear. Conclusion: PGRN mutations are not a common cause of ALS phenotypes.

AB - Objective: Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD). Clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) and FTD prompted us to screen PGRN in patients with ALS and ALS-FTD. Methods: The PGRN gene was sequenced in 272 cases of sporadic ALS, 40 cases of familial ALS and in 49 patients with ALS-FTD. Results: Missense changes were identified in an ALS-FTD patient (p.S120Y) and in a single case of limb onset sporadic ALS (p.T182M), although the pathogenicity of these variants remains unclear. Conclusion: PGRN mutations are not a common cause of ALS phenotypes.

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Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes

Abstract

ASJC Scopus subject areas

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