De novo SPAST mutations may cause a complex SPG4 phenotype

Affiliations

¹ Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.
² Leiden University Medical Center, Department of Neurology, Leiden, The Netherlands.
³ Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.
⁴ Amsterdam Neuroscience, Amsterdam, The Netherlands.
⁵ University Medical Center Utrecht, Department of Medical Genetics, Utrecht, The Netherlands.
⁶ Maastricht University Medical Center+, Department of Clinical Genetics, Maastricht, The Netherlands.
⁷ Department of Genetics and Cell Biology, GROW, School for Oncology, FHML, Maastricht University, The Netherlands.
⁸ Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands.
⁹ Amsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.
¹⁰ Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.
¹¹ University Medical Center Groningen, University of Groningen, Department of Genetics, Groningen, The Netherlands.

Comment

Jolanda H Schieving et al. Brain. 2019.

. 2019 Jul 1;142(7):e31.

doi: 10.1093/brain/awz140.

¹ Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.
² Leiden University Medical Center, Department of Neurology, Leiden, The Netherlands.
³ Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.
⁴ Amsterdam Neuroscience, Amsterdam, The Netherlands.
⁵ University Medical Center Utrecht, Department of Medical Genetics, Utrecht, The Netherlands.
⁶ Maastricht University Medical Center+, Department of Clinical Genetics, Maastricht, The Netherlands.
⁷ Department of Genetics and Cell Biology, GROW, School for Oncology, FHML, Maastricht University, The Netherlands.
⁸ Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands.
⁹ Amsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.
¹⁰ Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.
¹¹ University Medical Center Groningen, University of Groningen, Department of Genetics, Groningen, The Netherlands.

No abstract available

Comment on

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, Monin ML, Ait Said S, Guegan J, Tallaksen CME, Sablonniere B, Brice A, Stevanin G, Depienne C, Durr A; SPATAX network. Parodi L, et al. Brain. 2018 Dec 1;141(12):3331-3342. doi: 10.1093/brain/awy285. Brain. 2018. PMID: 30476002