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

Beatriz De la Casa-Fages; Gorka Fernández-Eulate; Josep Gamez; Raúl Barahona-Hernando; Germán Morís; María García-Barcina; Jon Infante; Miren Zulaica; Uxoa Fernández-Pelayo; Mikel Muñoz-Oreja; Miguel Urtasun; Ander Olaskoaga; Victoria Zelaya; Ivonne Jericó; Raquel Saez-Villaverde; Irene Catalina; Emma Sola; Elena Martínez-Sáez; Aurora Pujol; Montserrat Ruiz; Agatha Schlüter; Antonella Spinazzola; Jose Luis Muñoz-Blanco; Francisco Grandas; Ian Holt; Victoria Álvarez; Adolfo López de Munaín

doi:10.1002/mds.27899

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

Mov Disord. 2019 Dec;34(12):1932-1933. doi: 10.1002/mds.27899.

Authors

Beatriz De la Casa-Fages^{1

2

3}, Gorka Fernández-Eulate^{4

5}, Josep Gamez^{6

7}, Raúl Barahona-Hernando^{1

8

9}, Germán Morís^{10

11}, María García-Barcina¹², Jon Infante^{13

14}, Miren Zulaica^{5

14}, Uxoa Fernández-Pelayo⁵, Mikel Muñoz-Oreja⁵, Miguel Urtasun⁴, Ander Olaskoaga¹⁵, Victoria Zelaya¹⁶, Ivonne Jericó¹⁷, Raquel Saez-Villaverde¹⁸, Irene Catalina^{1

8}, Emma Sola¹⁹, Elena Martínez-Sáez^{20

21}, Aurora Pujol^{22

23

24}, Montserrat Ruiz^{22

24}, Agatha Schlüter^{22

24}, Antonella Spinazzola^{25

26}, Jose Luis Muñoz-Blanco^{1

3

8}, Francisco Grandas^{1

2

3}, Ian Holt^{5

27}, Victoria Álvarez^{10

28}, Adolfo López de Munaín^{4

5

29}

Affiliations

¹ Department of Neurology, Hospital General Universitario Gregorio Marañon, Madrid, Spain.
² Movement Disorders Unit, National Referral Center for Rare Diseases with Movement Disorders, Hospital General Universitario Gregorio Marañon, Madrid, Spain.
³ Neurosciences Area, Instituto Investigacion Sanitaria Gregorio Marañon, Madrid, Spain.
⁴ Department of Neurology, Hospital Universitario Donostia, San Sebastian, Spain.
⁵ Department of Neurosciences, Instituto Biodonostia, San Sebastian, Spain.
⁶ Department of Neurology, Hospital General Universitari Vall d'Hebron-Universitat Autònoma de Barcelona-Vall d'Hebron Research Institute (UAB-VHIR), Barcelona, Spain.
⁷ European Reference Network on Rare Neurological Diseases, Hospital General Universitari Vall d'Hebron-UAB, Barcelona, Spain.
⁸ Amyotrophic Lateral Sclerosis (ALS)-Neuromuscular Unit, Hospital General Universitario Gregorio Marañon, Madrid, Spain.
⁹ Department of Neurology, Hospital Ruber Juan Bravo, Grupo Quironsalud, Madrid, Spain.
¹⁰ Instituto de Investigación Biosanitaria del Principado de Asturias, Oviedo, Spain.
¹¹ Department of Neurology, Hospital Universitario Central de Asturias, Oviedo, Spain.
¹² Genetics Unit, Hospital Universitario Basurto, Bilbao, Spain.
¹³ Department of Neurology, Hospital Universitario Marques de Valdecilla-Instituto de Investigación Marqués de Valdecilla (IDIVAL), University of Cantabria, Santander, Spain.
¹⁴ Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Institute Carlos III, Santander, Spain.
¹⁵ Hospital de Zumarraga, Zumarraga, Spain.
¹⁶ Department of Pathology, Complejo Hospitalario de Navarra, Pamplona, Spain.
¹⁷ Department of Neurology, Complejo Hospitalario de Navarra, Pamplona, Spain.
¹⁸ Department of Genetics, Hospital Universitario Donostia, San Sebastian, Spain.
¹⁹ Department of Pathology, Hospital General Universitario Gregorio Maranon, Madrid, Spain.
²⁰ Department of Pathology, Hospital General Universitari Vall d'Hebron-UAB-VHIR, Barcelona, Spain.
²¹ Department of Medicine, UAB, Barcelona, Spain.
²² Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
²³ Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.
²⁴ Center for Biomedical Research on Rare Diseases, Centro De Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Institute Carlos III, Spain.
²⁵ Department of Clinical Movement Neurosciences, Institute of Neurology, Royal Free Campus, University College London, London, United Kingdom.
²⁶ Medical Center UCL (MRC) Centre for Neuromuscular Diseases, University College of London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.
²⁷ Basque Foundation for Science (IKERBASQUE), Basque Foundation for Science, Bilbao, Spain.
²⁸ Genetics Laboratory, Área de Gestión clínica (AGC) Medicine Laboratory, Hospital Universitario Central de Asturias, Oviedo, Spain.
²⁹ Department of Neurosciences Universidad del País Vasco (UPV/EHU), San Sebastian, Spain.

PMID: 31845766
DOI: 10.1002/mds.27899

No abstract available

Publication types

Letter
Comment

MeSH terms

ATPases Associated with Diverse Cellular Activities
DNA, Mitochondrial
Humans
Metalloendopeptidases
Paraplegia
Parkinsonian Disorders*
Spastic Paraplegia, Hereditary*

Substances

DNA, Mitochondrial
Metalloendopeptidases
SPG7 protein, human
ATPases Associated with Diverse Cellular Activities

Supplementary concepts

Spastic Paraplegia Type 7

Grants and funding

MC_PC_13029/2/MRC_/Medical Research Council/United Kingdom