Article
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
American journal of human genetics - 6 Aug 2020
Husain Ralf A, Grimmel Mona, Wagner Matias, Hennings J Christopher, Marx Christian, Feichtinger René G, Saadi Abdelkrim, Rostásy Kevin, Radelfahr Florentine, Bevot Andrea, Döbler-Neumann Marion, Hartmann Hans, Colleaux Laurence, Cordts Isabell, Kobeleva Xenia, Darvish Hossein, Bakhtiari Somayeh, Kruer Michael C, Besse Arnaud, Ng Andy Cheuk-Him, Chiang Diana, Bolduc Francois, Tafakhori Abbas, Mane Shrikant, Ghasemi Firouzabadi Saghar, Huebner Antje K, Buchert Rebecca, Beck-Woedl Stefanie, Müller Amelie J, Laugwitz Lucia, Nägele Thomas, Wang Zhao-Qi, Strom Tim M, Sturm Marc, Meitinger Thomas, Klockgether Thomas, Riess Olaf, Klopstock Thomas, Brandl Ulrich, Hübner Christian A, Deschauer Marcus, Mayr Johannes A, Bonnen Penelope E, Krägeloh-Mann Ingeborg, Wortmann Saskia B, Haack Tobias B
Abstract excerpt
We report bi-allelic pathogenic HPDL variants as a cause of a progressive, pediatric-onset spastic movement disorder with variable clinical presentation. The single-exon gene HPDL encodes a protein of unknown function with sequence similarity to 4-hydroxyphenylpyruvate dioxygenase. Exome sequencing studies in 13 families revealed bi-allelic HPDL variants in each of the 17 individuals affected with this clinically...
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