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Clinical/Scientific Notes
September 13, 2004

Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians

September 14, 2004 issue
63 (5) 936

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References

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Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004; 3: 291–304.
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Knight MA, McKinlay Gardner RJ, Bahlo M, et al. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain. 2004; 127: 1172–1181.
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Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003; 72: 839–849.
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van Swieten JC, Brusse E, de Graaf BM, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet. 2003; 72: 191–199.

Information & Authors

Information

Published In

Neurology®
Volume 63Number 5September 14, 2004
Pages: 936
PubMed: 15365159

Publication History

Received: April 13, 2004
Accepted: May 11, 2004
Published online: September 13, 2004
Published in print: September 14, 2004

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Authors

Affiliations & Disclosures

G. Stevanin, PhD
From INSERM U289 (Drs. Stevanin, Durr, and Brice, C. Penet and C. Dussert), Federative Institute for Neuroscience Research-IFR-70, Department of Genetics Cytogenetics and Embryology AP-HP (Drs. Stevanin, Durr, and Brice), and Federation of Neurology AP-HP (Dr. Brice), Salpetriere Hospital, Paris, France.
A. Durr, MD, PhD
From INSERM U289 (Drs. Stevanin, Durr, and Brice, C. Penet and C. Dussert), Federative Institute for Neuroscience Research-IFR-70, Department of Genetics Cytogenetics and Embryology AP-HP (Drs. Stevanin, Durr, and Brice), and Federation of Neurology AP-HP (Dr. Brice), Salpetriere Hospital, Paris, France.
C. Dussert, BS
From INSERM U289 (Drs. Stevanin, Durr, and Brice, C. Penet and C. Dussert), Federative Institute for Neuroscience Research-IFR-70, Department of Genetics Cytogenetics and Embryology AP-HP (Drs. Stevanin, Durr, and Brice), and Federation of Neurology AP-HP (Dr. Brice), Salpetriere Hospital, Paris, France.
C. Penet, BS
From INSERM U289 (Drs. Stevanin, Durr, and Brice, C. Penet and C. Dussert), Federative Institute for Neuroscience Research-IFR-70, Department of Genetics Cytogenetics and Embryology AP-HP (Drs. Stevanin, Durr, and Brice), and Federation of Neurology AP-HP (Dr. Brice), Salpetriere Hospital, Paris, France.
A. Brice, MD
From INSERM U289 (Drs. Stevanin, Durr, and Brice, C. Penet and C. Dussert), Federative Institute for Neuroscience Research-IFR-70, Department of Genetics Cytogenetics and Embryology AP-HP (Drs. Stevanin, Durr, and Brice), and Federation of Neurology AP-HP (Dr. Brice), Salpetriere Hospital, Paris, France.

Notes

Address correspondence and reprint requests to Dr. A. Brice, INSERM U 289, Hôpital de la Salpêtrière, 47, boulevard de l’Hôpital, 75651 Paris, Cedex 13, France; e-mail: [email protected]

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Cited By
  1. Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27, Journal of Internal Medicine, 288, 1, (103-115), (2020).https://doi.org/10.1111/joim.13052
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  2. A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia, neurogenetics, 16, 3, (233-236), (2015).https://doi.org/10.1007/s10048-014-0436-7
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  3. Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population, Neuroscience Letters, 520, 1, (16-19), (2012).https://doi.org/10.1016/j.neulet.2012.05.008
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  4. Autosomal dominant cerebellar ataxias, Revue Neurologique, 167, 5, (385-400), (2011).https://doi.org/10.1016/j.neurol.2011.01.015
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  5. SCA27, Encyclopedia of Movement Disorders, (91-95), (2010).https://doi.org/10.1016/B978-0-12-374105-9.00241-0
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  6. Chapter 4 Clinical and Genetic Aspects of Spinocerebellar Ataxias with Emphasis on Polyglutamine Expansions, Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias, (113-144), (2007).https://doi.org/10.1016/S1877-184X(09)70078-4
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  7. The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients , Movement Disorders, 22, 5, (752-753), (2007).https://doi.org/10.1002/mds.21389
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  8. Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 144B, 3, (395-396), (2007).https://doi.org/10.1002/ajmg.b.30472
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  9. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype, Movement Disorders, 21, 3, (396-401), (2006).https://doi.org/10.1002/mds.20708
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  10. New mutations in protein kinase Cγ associated with spinocerebellar ataxia type 14, Annals of Neurology, 58, 5, (720-729), (2005).https://doi.org/10.1002/ana.20628
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