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Comment
. 2019 Dec;34(12):1931-1932.
doi: 10.1002/mds.27905.

Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion

Josef Finsterer  1
Affiliations
Comment

Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion

Josef Finsterer. Mov Disord. 2019 Dec.
No abstract available

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Comment in

  • Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
    De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Mov Disord. 2019 Dec;34(12):1932-1933. doi: 10.1002/mds.27899. Mov Disord. 2019. PMID: 31845766 No abstract available.

Comment on

  • Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
    De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Mov Disord. 2019 Oct;34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21. Mov Disord. 2019. PMID: 31433872

References

    1. De la Casa-Fages B, Fernández-Eulate G, Gamez J, et al. Parkinsonism and spastic paraplegia type 7: expanding the spectrum of mitochondrial parkinsonism [published online ahead of print 2019]. Mov Disord. https://doi.org/10.1002/mds.27812
    1. Mancuso G, Barth E, Crivello P, Rugarli EI. Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum. PLoS One 2012;7:e36337. https://doi.org/10.1371/journal.pone.0036337
    1. Maltecca F, Aghaie A, Schroeder DG, et al. The mitochondrial protease AFG3L2 is essential for axonal development. J Neurosci 2008;28:2827-2836.
    1. Wedding IM, Koht J, Tran GT, et al. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLoS One 2014;9:e86340. https://doi.org/10.1371/journal.pone.0086340
    1. Coarelli G, Schule R, van de Warrenburg BPC, et al. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7. Neurology 2019;92:e2679-e2690.

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