{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:22:03Z","timestamp":1791040923462,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,19]],"date-time":"2020-11-19T00:00:00Z","timestamp":1605744000000},"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":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Ataxia telangiectasia is one of the most common causes of autosomal recessive cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha\u2010fetoprotein and negative genetic test may direct to alternative diagnosis with similar phenotypes such as ataxia telangiectasia\u2010like disorders (ATLD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>\n                      We report two instructive cases of ATLD: the first case with ataxia telangiectasia\u2010like disorder type 1 related to\n                      <jats:italic>MRE11A<\/jats:italic>\n                      gene, and the second case with ataxia telangiectasia\u2010like disorder type 2 related to\n                      <jats:italic>PCNA<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Literature Review<\/jats:title>\n                    <jats:p>\n                      ATLD is an unusual group of autosomal recessive diseases that share some clinical features and pathophysiological mechanisms with ataxia telangiectasia (AT). ATLD may be associated with mutations in the\n                      <jats:italic>MRE11A<\/jats:italic>\n                      (ATLD type 1) and\n                      <jats:italic>PCNA<\/jats:italic>\n                      (ATLD type 2) genes. ATLD belongs to the group of chromosomal instability syndromes. The reason for the term ATLD is related to the similar pathophysiological mechanisms observed in AT, which is characterized by chromosomal instability and radiosensitivity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      In this review, the main clinical features, biomarkers, brain imaging and genetics of ATLD are discussed. Mutations in the\n                      <jats:italic>MRE11A<\/jats:italic>\n                      and\n                      <jats:italic>PCNA<\/jats:italic>\n                      genes should be included in the differential diagnosis for early onset cerebellar ataxia with absence of telangiectasia and normal levels of alpha\u2010fetoprotein.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.13110","type":"journal-article","created":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T14:37:26Z","timestamp":1604068646000},"page":"118-125","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Beyond Typical Ataxia Telangiectasia: How to Identify the Ataxia Telangiectasia\u2010Like Disorders"],"prefix":"10.1002","volume":"8","author":[{"given":"Ivana Rocha","family":"Raslan","sequence":"first","affiliation":[{"name":"Department of Neurology, Ataxia Unit Universidade Federal de S\u00e3o 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