Article
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain : a journal of neurology - 1 Aug 2024
Sidpra Jai, Sudhakar Sniya, Biswas Asthik, Massey Flavia, Turchetti Valentina, Lau Tracy, Cook Edward, Alvi Javeria Raza, Elbendary Hasnaa M, Jewell Jerry L, Riva Antonella, Orsini Alessandro, Vignoli Aglaia, Federico Zara, Rosenblum Jessica, Schoonjans An-Sofie, de Wachter Matthias, Delgado Alvarez Ignacio, Felipe-Rucián Ana, Haridy Nourelhoda A, Haider Shahzad, Zaman Mashaya, Banu Selina, Anwaar Najwa, Rahman Fatima, Maqbool Shazia, Yadav Rashmi, Salpietro Vincenzo, Maroofian Reza, Patel Rajan, Radhakrishnan Rupa, Prabhu Sanjay P, Lichtenbelt Klaske, Stewart Helen, Murakami Yoshiko, Löbel Ulrike, D'Arco Felice, Wakeling Emma, Jones Wendy, Hay Eleanor, Bhate Sanjay, Jacques Thomas S, Mirsky David M, Whitehead Matthew T, Zaki Maha S, Sultan Tipu, Striano Pasquale, Jansen Anna C, Lequin Maarten, de Vries Linda S, Severino Mariasavina, Edmondson Andrew C, Menzies Lara, Campeau Philippe M, Houlden Henry, McTague Amy, Efthymiou Stephanie, Mankad Kshitij
Abstract excerpt
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data....
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