PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Matthew Wilson; Jodi Warman Chardon; Jana J Vandrovcova; M. Natalia Zanetti; Eleni Zamba‐papanicolaou; Simon Pope; Maria Conte; Giancarlo Abis; Yo‐tsen Liu; Eloise Tribollet; Juan Botía; Mina Ryten; Paschalis Nicolaou; Anna Minaidou; Kyproula Christodoulou; Kristin Kernohan; Alison Eaton; Matthew M Osmond; Yoko Ito; Pierre Bourque; James Jepson; Oscar Bello; Fion Bremner; Carla Cordivari; Mary M Reilly; Martha Foiani; Amanda Heslegrave; Henrik Zetterberg; Simon Heales; Nicholas Wood; Kym Boycott; Philippa Mills; Peter Clayton; Yamna Kriouile; Mohamed El Khorassani; Mhammed Aguennouz; Stanislav Groppa; Blagovesta Marinova Karashova; Lionel van Maldergem; Wolfgang Nachbauer; Sylvia Boesch; Larissa Arning; Dagmar Timmann; Bru Cormand; Belen Pérez‐dueñas; Gabriella Di Rosa; Jatinder Goraya; Tipu Sultan; Jun Mine; Daniela Avdjieva; Hadil Kathom; Radka Tincheva; Selina Banu; Mercedes Pineda‐marfa; Pierangelo Veggiotti; Michel Ferrari; Arn van den Maagdenberg; Alberto Verrotti; Giangluigi Marseglia; Salvatore Savasta; Mayte García‐silva; Alfons Macaya Ruiz; Barbara Garavaglia; Simona Portaro; Benigno Monteagudo Sanchez; Richard Boles; Savvas Papacostas; Michail Vikelis; James E Rothman; Paola Giunti; Henry Houlden; Viorica Chelban; Vincenzo Salpietro; Emer Oconnor; Stephanie Efthymiou; Dimitri Kullmann; Rauan Kaiyrzhanov; Roisin Sullivan; Alaa Matooq Khan; Wai Yan Yau; Isabel Hostettler; Eleni Zamba Papanicolaou; Efthymios Dardiotis; Shazia Maqbool; Shahnaz Ibrahim; Salman Kirmani; Nuzhat Noureen Rana; Osama Atawneh; Shen‐yang Lim; Farooq Shaikh; George Koutsis; Marianthi Breza; Salvatore Mangano; Carmela Scuderi; Eugenia Borgione; Giovanna Morello; Tanya Stojkovic; Erin Torti; Massimi Zollo; Gali Heimer; Yves Dauvilliers; Pasquale Striano; Issam Al‐khawaja; Fuad Al‐mutairi; Fowzan Alkuraya; Hamed Sherifa; Mie Rizig; Njideka Okubadejo; Oluwadamilola Ojo; Olajumoke Oshinaike; Kolawole Wahab; Abiodun Bello; Sanni Abubakar; Yahaya Obiabo; Ernest Nwazor; Oluchi Ekenze; Uduak Williams; Alagoma Iyagba; Lolade Taiwo; Morenikeji Komolafe; Olapeju Oguntunde; Sofya Pchelina; Konstantin Senkevich; Nourelhoda Haridy; Chingiz Shashkin; Nazira Zharkynbekova; Kairgali Koneyev; Ganieva Manizha; Maksud Isrofilov; Ulviyya Guliyeva; Kamran Salayev; Samson Khachatryan; Salvatore Rossi; Gabriella Silvestri; Thomas Bourinaris; Georgia Xiromerisiou; Liana Fidani; Cleanthe Spanaki; Arianna Tucci

doi:10.1002/ana.25524

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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

Matthew Wilson, Jodi Warman Chardon, Jana J Vandrovcova, M. Natalia Zanetti, Eleni Zamba‐papanicolaou, Simon Pope, Maria Conte, Giancarlo Abis, Yo‐tsen Liu, Eloise Tribollet, …

Annals of Neurology, Vol.86(2), pp.225-240

24/06/2019

DOI: https://doi.org/10.1002/ana.25524

PMCID: PMC6772106

Résumé

PDXK mutations

Adenosine triphosphate (ATP)

Autosomal recessive axonal polyneuropathy

Objective: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy.Methods: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating scales, electrophysiology, and biochemical quantification.

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Titre: PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
Créateurs - sans rôle: Matthew Wilson - Great Ormond Street Hospital
Jodi Warman Chardon - Université d'Ottawa [Ontario]
Jana J Vandrovcova - National Hospital for Neurology and Neurosurgery
M. Natalia Zanetti - Epilepsy Research UK
Eleni Zamba‐papanicolaou - Cyprus Institute of Neurology and Genetics
Simon Pope - University College London
Maria Conte - King's College London
Giancarlo Abis - King's College London
Yo‐tsen Liu - National Yang Ming Chiao Tung University
Eloise Tribollet - National Hospital for Neurology and Neurosurgery
Juan Botía - University College London
Mina Ryten - Guy's Hospital
Paschalis Nicolaou - Cyprus Institute of Neurology and Genetics
Anna Minaidou - Cyprus Institute of Neurology and Genetics
Kyproula Christodoulou - Cyprus Institute of Neurology and Genetics
Kristin Kernohan - Newborn Screening Ontario
Alison Eaton - University of Ottawa
Matthew M Osmond - University of Ottawa
Yoko Ito - University of Ottawa
Pierre Bourque - Ottawa Hospital Research Institute
James Jepson - University College of London [London]
Oscar Bello - National Hospital for Neurology and Neurosurgery
Fion Bremner - National Hospital for Neurology and Neurosurgery
Carla Cordivari - National Hospital for Neurology and Neurosurgery
Mary M Reilly - National Hospital for Neurology and Neurosurgery
Martha Foiani - University College London
Amanda Heslegrave - University College London
Henrik Zetterberg - MRC Prion Unit
Simon Heales - National Hospital for Neurology and Neurosurgery
Nicholas Wood - Queen Mary University of London
Kym Boycott - University of Ottawa
Philippa Mills - Great Ormond Street Hospital
Peter Clayton - Great Ormond Street Hospital
Yamna Kriouile
Mohamed El Khorassani
Mhammed Aguennouz
Stanislav Groppa
Blagovesta Marinova Karashova
Lionel van Maldergem
Wolfgang Nachbauer
Sylvia Boesch
Larissa Arning - Department of Human Genetics
Dagmar Timmann
Bru Cormand - Universitat de Barcelona
Belen Pérez‐dueñas
Gabriella Di Rosa - Department of Medical and Surgical Pediatrics
Jatinder Goraya
Tipu Sultan
Jun Mine
Daniela Avdjieva
Hadil Kathom
Radka Tincheva
Selina Banu
Mercedes Pineda‐marfa
Pierangelo Veggiotti - Fondazione
Michel Ferrari
Arn van den Maagdenberg - Departments of Human Genetics & Neurology
Alberto Verrotti - University of L'Aquila
Giangluigi Marseglia
Salvatore Savasta
Mayte García‐silva
Alfons Macaya Ruiz
Barbara Garavaglia - Fondazione IRCCS Istituto Neurologico Carlo Besta
Simona Portaro
Benigno Monteagudo Sanchez
Richard Boles
Savvas Papacostas
Michail Vikelis
James E Rothman - Epilepsy Research UK
Paola Giunti - University College of London [London]
Henry Houlden - National Hospital for Neurology and Neurosurgery
Viorica Chelban - Institutul Oncologic din Republica Moldova
Vincenzo Salpietro - University College of London [London]
Emer Oconnor
Stephanie Efthymiou - University College London
Dimitri Kullmann - University College of London [London]
Rauan Kaiyrzhanov
Roisin Sullivan
Alaa Matooq Khan
Wai Yan Yau
Isabel Hostettler
Eleni Zamba Papanicolaou
Efthymios Dardiotis
Shazia Maqbool
Shahnaz Ibrahim
Salman Kirmani
Nuzhat Noureen Rana
Osama Atawneh
Shen‐yang Lim
Farooq Shaikh
George Koutsis
Marianthi Breza
Salvatore Mangano
Carmela Scuderi - Department of Microbiology
Eugenia Borgione
Giovanna Morello
Tanya Stojkovic - Charmo University
Erin Torti - Gene Dx
Massimi Zollo
Gali Heimer - Tel Aviv University
Yves Dauvilliers - Neuropsychiatrie : Recherche Epidemiologique et Clinique
Pasquale Striano - University of Genoa
Issam Al‐khawaja
Fuad Al‐mutairi
Fowzan Alkuraya
Hamed Sherifa
Mie Rizig
Njideka Okubadejo
Oluwadamilola Ojo
Olajumoke Oshinaike
Kolawole Wahab
Abiodun Bello
Sanni Abubakar
Yahaya Obiabo
Ernest Nwazor
Oluchi Ekenze
Uduak Williams
Alagoma Iyagba
Lolade Taiwo
Morenikeji Komolafe
Olapeju Oguntunde
Sofya Pchelina
Konstantin Senkevich
Nourelhoda Haridy - Assiut University Hospitals
Chingiz Shashkin
Nazira Zharkynbekova
Kairgali Koneyev
Ganieva Manizha
Maksud Isrofilov
Ulviyya Guliyeva
Kamran Salayev
Samson Khachatryan
Salvatore Rossi
Gabriella Silvestri - Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Thomas Bourinaris
Georgia Xiromerisiou
Liana Fidani
Cleanthe Spanaki
Arianna Tucci - UCL Queen Square Institute of Neurology
Détails de publication: Annals of Neurology, Vol.86(2), pp.225-240
Identifiants: 99161515109311
Unité académique: Université de Montpellier
Langue: English
Type de ressource: Journal article
Champs locaux: hal-02747388