caa a22 4500 445364734 CHVBK 20180317142926.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1007/s10048-011-0291-8 doi (NATIONALLICENCE)springer-10.1007/s10048-011-0291-8 A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18) [Elektronische Daten] [Anas Alazami, Nouran Adly, Hisham Al Dhalaan, Fowzan Alkuraya] Hereditary Spastic Paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. We describe an extended consanguineous Saudi family in which HSP is linked to SPG18, a previously reported autosomal recessive locus, and show that it is associated with a nullimorphic deletion of ERLIN2, a component of endoplasmic reticulum associated degradation. This finding adds to the growing diversity of cellular functions that are now known to be involved in the maintenance of the corticospinal tract neurons. The Author(s), 2011 ERAD nationallicence Aphasia nationallicence Intellectual disability nationallicence ERLIN2 nationallicence Alazami Anas Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia aut Adly Nouran Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia aut Al Dhalaan Hisham Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia aut Alkuraya Fowzan Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia aut neurogenetics Springer-Verlag 12/4(2011-11-01), 333-336 1364-6745 12:4<333 2011 12 10048 https://doi.org/10.1007/s10048-011-0291-8 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0291-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Alazami Anas Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia aut NATIONALLICENCE 700 1- Adly Nouran Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia aut NATIONALLICENCE 700 1- Al Dhalaan Hisham Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia aut NATIONALLICENCE 700 1- Alkuraya Fowzan Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/4(2011-11-01), 333-336 1364-6745 12:4<333 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer