Article
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain : a journal of neurology - 22 Jun 2021
Wiessner Manuela, Maroofian Reza, Ni Meng-Yuan, Pedroni Andrea, Müller Juliane S, Stucka Rolf, Beetz Christian, Efthymiou Stephanie, Santorelli Filippo M, Alfares Ahmed A, Zhu Changlian, Uhrova Meszarosova Anna, Alehabib Elham, Bakhtiari Somayeh, Janecke Andreas R, Otero Maria Gabriela, Chen Jin Yun Helen, Peterson James T, Strom Tim M, De Jonghe Peter, Deconinck Tine, De Ridder Willem, De Winter Jonathan, Pasquariello Rossella, Ricca Ivana, Alfadhel Majid, van de Warrenburg Bart P, Portier Ruben, Bergmann Carsten, Ghasemi Firouzabadi Saghar, Jin Sheng Chih, Bilguvar Kaya, Hamed Sherifa, Abdelhameed Mohammed, Haridy Nourelhoda A, Maqbool Shazia, Rahman Fatima, Anwar Najwa, Carmichael Jenny, Pagnamenta Alistair, Wood Nick W, Tran Mau-Them Frederic, Haack Tobias, Di Rocco Maja, Ceccherini Isabella, Iacomino Michele, Zara Federico, Salpietro Vincenzo, Scala Marcello, Rusmini Marta, Xu Yiran, Wang Yinghong, Suzuki Yasuhiro, Koh Kishin, Nan Haitian, Ishiura Hiroyuki, Tsuji Shoji, Lambert Laëtitia, Schmitt Emmanuelle, Lacaze Elodie, Küpper Hanna, Dredge David, Skraban Cara, Goldstein Amy, Willis Mary J H, Grand Katheryn, Graham John M, Lewis Richard A, Millan Francisca, Duman Özgür, Dündar Nihal, Uyanik Gökhan, Schöls Ludger, Nürnberg Peter, Nürnberg Gudrun, Catala Bordes Andrea, Seeman Pavel, Kuchar Martin, Darvish Hossein, Rebelo Adriana, Bouçanova Filipa, Medard Jean-Jacques, Chrast Roman, Auer-Grumbach Michaela, Alkuraya Fowzan S, Shamseldin Hanan, Al Tala Saeed, Rezazadeh Varaghchi Jamileh, Najafi Maryam, Deschner Selina, Gläser Dieter, Hüttel Wolfgang, Kruer Michael C, Kamsteeg Erik-Jan, Takiyama Yoshihisa, Züchner Stephan, Baets Jonathan, Synofzik Matthis, Schüle Rebecca, Horvath Rita, Houlden Henry, Bartesaghi Luca, Lee Hwei-Jen, Ampatzis Konstantinos, Pierson Tyler Mark, Senderek Jan
Abstract excerpt
Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes...