ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Affiliations

• ¹ 1 Department of Human Genetics, University of Utah, Salt Lake City 84112, Utah, USA 2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy emanuele.panza@genetics.utah.edu.
• ² 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain.
• ³ 3 Instituto de Biomedicina de Valencia of the CSIC, Valencia 46010, Spain 4 Group 739, Centro para Investigación Biomédica en Red sobre Enfermedades Raras CIBERER-ISCIII, Valencia, Spain.
• ⁴ 5 Department of Neurosciences and Reproductive and Odontostomatologic Sciences, University Federico II, Naples 80138, Italy.
• ⁵ 6 IRCCS Istituto delle Scienze Neurologiche di Bologna 40139, Italy 7 Department of Biomedical and NeuroMotor Sciences, University of Bologna 40139, Italy.
• ⁶ 8 Clinical Genetics Unit, Department of Woman and Child Health, University of Padova 35128, Italy 9 IRP Città della Speranza, Padova 35129, Italy.
• ⁷ 10 A. Meyer Institute, Firenze 50139, Italy.
• ⁸ 11 Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Cagliari 09042, Italy 12 CRS4, Parco Tecnologico della Sardegna, Cagliari 09010, Italy.
• ⁹ 2 Department of Medical and Surgical Science, University of Bologna, Bologna 40138, Italy.
• ¹⁰ 13 Medical Genetics Unit, G. Gaslini Institute, Genova 16147, Italy 14 University of Genova, DINOGMI Department, Genova 16147, Italy.
• ¹¹ 15 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK 16 Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
• ¹² 17 Department of Clinical Genetics, St Michael's Hospital Bristol BS8 4LL, UK.
• ¹³ 18 Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
• ¹⁴ 19 Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
• ¹⁵ 20 IRCCS AOU San Martino - IST. Istituto Nazionale per la Ricerca sul Cancro, Genova 16132, Italy.