{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T11:23:21Z","timestamp":1789212201637,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,4,2]],"date-time":"2014-04-02T00:00:00Z","timestamp":1396396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"German Ministry of Education and Research (BMBF)","award":["01GM0838 (Leukonet)"],"award-info":[{"award-number":["01GM0838 (Leukonet)"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec>\n                    <jats:title>Background and purpose<\/jats:title>\n                    <jats:p>In chronic progressive spasticity of the legs many rare causes have to be considered, including leukodystrophies due to neurometabolic disorders. To determine the frequency of leukodystrophies and the phenotypic spectrum patients with cryptic spasticity of the legs were screened for underlying neurometabolic abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Seventy\u2010six index patients presenting with adult\u2010onset lower limb spasticity of unknown cause consistent with autosomal recessive inheritance were included in this study. Screening included serum levels of very long chain fatty acids for\n                      <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\n                      \u2010linked adrenoleukodystrophy\/adrenomyeloneuropathy and lysosomal enzyme activities in leukocytes for metachromatic leukodystrophy,\n                      <jats:styled-content style=\"fixed-case\">GM<\/jats:styled-content>\n                      1\u2010gangliosidosis,\n                      <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>\n                      ay\u2212\n                      <jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>\n                      achs,\n                      <jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>\n                      andhoff and\n                      <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>\n                      rabbe disease. If clinical evidence was indicative of other types of leukodystrophies, additional genetic testing was conducted. Clinical characterization included neurological and psychiatric features and magnetic resonance imaging.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Basic screening detected one index patient with metachromatic leukodystrophy, two patients with\n                      <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>\n                      rabbe disease and four patients with adrenoleukodystrophy\/adrenomyeloneuropathy. Additional genetic testing revealed one patient with vanishing white matter disease. These patients accounted for an overall share of 11% of leukodystrophies. One patient with\n                      <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>\n                      rabbe disease and three patients with adrenoleukodystrophy\/adrenomyeloneuropathy presented with pure spasticity of the lower limbs, whilst one patient each with\n                      <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>\n                      rabbe disease, metachromatic leukodystrophy and adrenoleukodystrophy\/adrenomyeloneuropathy showed additional complicating symptoms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Adult patients presenting with cryptic spasticity of the legs should be screened for underlying\n                      <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\n                      \u2010linked adrenoleukodystrophy\/adrenomyeloneuropathy and lysosomal disorders, irrespective of the presence of additional complicating symptoms. Leukodystrophies may manifest as late as the sixth decade and hyperintensity of cerebral white matter on magnetic resonance\n                      <jats:styled-content style=\"fixed-case\">FLAIR<\/jats:styled-content>\n                      images is not obligatory.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.12423","type":"journal-article","created":{"date-parts":[[2014,4,2]],"date-time":"2014-04-02T10:35:09Z","timestamp":1396434909000},"page":"983-988","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients"],"prefix":"10.1111","volume":"21","author":[{"given":"J.","family":"M\u00fcller vom Hagen","sequence":"first","affiliation":[{"name":"Department of Neurodegenerative Diseases Hertie\u2010Institute for Clinical Brain Research University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"German Centre for Neurodegenerative Diseases (DZNE) T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. N.","family":"Karle","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Diseases Hertie\u2010Institute for Clinical Brain Research University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"German Centre for Neurodegenerative Diseases (DZNE) T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Sch\u00fcle","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Diseases Hertie\u2010Institute for Clinical Brain Research University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"German Centre for Neurodegenerative Diseases (DZNE) T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Kr\u00e4geloh\u2010Mann","sequence":"additional","affiliation":[{"name":"German Centre for Neurodegenerative Diseases (DZNE) T\u00fcbingen Germany"},{"name":"Department of Neuropediatrics University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Sch\u00f6ls","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Diseases Hertie\u2010Institute for Clinical Brain Research University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"German Centre for Neurodegenerative Diseases (DZNE) T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.167528"},{"key":"e_1_2_8_3_1","first-page":"1993","volume-title":"GeneReviews\u2122 [Internet]","author":"Fink JK","year":"2000"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.72.5.635"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200211000-00003"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181eee46b"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711905"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/NRL.0b013e3181b287c8"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328338313a"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1703839"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70194-1"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6106-x"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22740"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0306-9"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2007.08.043"},{"key":"e_1_2_8_17_1","first-page":"114","volume-title":"Fehlbildungen und fr\u00fchkindliche Sch\u00e4digungen des ZNS. 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