{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T04:05:39Z","timestamp":1773029139833,"version":"3.50.1"},"reference-count":75,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,6,2]],"date-time":"2015-06-02T00:00:00Z","timestamp":1433203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      The hereditary spastic paraplegias (\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      s) are a heterogeneous group of disorders characterized by spasticity in the lower limbs. We provide an overview of\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      with an emphasis on recent developments.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A PubMed search using the term \u201chereditary spastic paraplegia\u201d and \u201chereditary spastic paraparesis\u201d was conducted for a period from January 2012 to January 2015. We discuss and critique the major studies in the field over this 36\u2010month period.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 346 publications were identified, of which 47 were selected for review. We provide an update of the common forms of\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      and include patient videos. We also discuss how next\u2010generation sequencing (NGS) has led to the accelerated discovery of new\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      genes, including\n                      <jats:italic>\n                        B4\n                        <jats:styled-content style=\"fixed-case\">GALNT<\/jats:styled-content>\n                        1\n                      <\/jats:italic>\n                      ,\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">DDHD<\/jats:styled-content>\n                        1\n                      <\/jats:italic>\n                      ,\n                      <jats:italic>C19orf12<\/jats:italic>\n                      ,\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">GBA<\/jats:styled-content>\n                        2\n                      <\/jats:italic>\n                      ,\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">TECPR<\/jats:styled-content>\n                        2\n                      <\/jats:italic>\n                      ,\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">DDHD<\/jats:styled-content>\n                        2\n                      <\/jats:italic>\n                      ,\n                      <jats:italic>C12orf65<\/jats:italic>\n                      ,\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">REEP<\/jats:styled-content>\n                        2\n                      <\/jats:italic>\n                      , and\n                      <jats:italic>\n                        <jats:styled-content style=\"fixed-case\">IBA<\/jats:styled-content>\n                        57\n                      <\/jats:italic>\n                      . Moreover, a single study alone identified 18 previously unknown putative\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      genes and created a model for the protein interactions of\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      , called the \u201c\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      ome.\u201d Many of the newly reported genes cause rare, complicated, autosomal recessive forms of\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      . NGS also has important clinical applications by facilitating the molecular diagnosis of\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      . Furthermore, common genetic forms of\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      have been studied using new disease models, such as neurons derived from induced pluripotent stem cells. These models have been used to elucidate important disease mechanisms and have served as platforms to screen for candidate drug compounds.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The field of\n                      <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>\n                      research has been progressing at a rapid pace. The challenge remains in translating these advances into new targeted disease therapies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.12184","type":"journal-article","created":{"date-parts":[[2015,6,2]],"date-time":"2015-06-02T19:45:23Z","timestamp":1433274323000},"page":"213-223","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models"],"prefix":"10.1002","volume":"2","author":[{"given":"Kishore R.","family":"Kumar","sequence":"first","affiliation":[{"name":"Departments of Neurology and Neurogenetics Kolling Institute of Medical Research and Royal North Shore Hospital University of Sydney Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas F.","family":"Blair","sequence":"additional","affiliation":[{"name":"Departments of Neurology and 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