1. Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease
- Author
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Leonidas Stefanis, Nicholas W. Wood, Eric LeGuern, Henry Houlden, Rabab Debs, Guillaume Banneau, Samia Ait Said, Maria Stamelou, John Tzartos, Thomas Zambelis, Thomas Bourinaris, George D. Vavougios, Clarisse Scherer-Gagou, Viorica Chelban, Yann Péréon, Marianthi Breza, Constantin Potagas, Georgios Koutsis, Theodoros Mavridis, Craig Blackstone, Jana Vandrovcova, Raul Juntas-Morales, Giovanni Stevanin, Laurène Tissier, Alkyoni Athanasiou-Fragkouli, Caterina Mariotti, Georgia Karadima, Jennifer Hirst, Jean Philippe Camdessanché, Bophara Kol, Stephanie Efthymiou, Chrisoula Kartanou, Jean-Médard Zola, Georgios Velonakis, Victoria G Martinez, Anna Heinzmann, Breza, Marianthi [0000-0001-9213-7941], Stamelou, Maria [0000-0003-1668-9925], Stevanin, Giovanni [0000-0001-9368-8657], and Apollo - University of Cambridge Repository
- Subjects
SPG48 ,Pediatrics ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Hereditary spastic paraplegia ,epileptic seizures ,rare disease ,spastic paraplegia 48 ,whole exome sequencing ,Rare Diseases ,medicine ,Humans ,hereditary spastic paraplegia ,Exome sequencing ,business.industry ,Spastic Paraplegia, Hereditary ,medicine.disease ,nervous system diseases ,Pedigree ,Phenotype ,Neurology ,Multicenter study ,AP5Z1 ,Mutation ,Neurology (clinical) ,business ,Rare disease - Abstract
Biallelic mutations in AP5Z1 are known to cause a rare, autosomal recessive, complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647)[1]. To date, only 11 SPG48 cases have been reported. The clinical spectrum of SPG48 is complex and heterogeneous, presenting with neuropathy, ataxia, dystonia and parkinsonism in addition to the spastic paraplegia (SP). AP5Z1 codes for the ζsubunit of the AP-5 complex, implicated in vesicular-mediated intracellular sorting and trafficking of cargo proteins[1] and functional studies demonstrate accumulation of multilamellar structures(endolysosomes) in SPG48 skin fibroblasts[2].
- Published
- 2021
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