Dystonic Leg Cramps and Cataracts with Low Ferritin and Normal Neuroimaging: an Overlapping Spectrum of FTL Gene Related Disorders.

Movement Disorders Clinical PracticeVolume 11, Issue 4 p. 424-426 CASE REPORT Dystonic Leg Cramps and Cataracts with Low Ferritin and Normal Neuroimaging: An Overlapping Spectrum of FTL Gene Related Disorders Farsana Mustafa MD, Farsana Mustafa MD orcid.org/0000-0001-9499-658X Department of Neurology, AIIMS, New Delhi, IndiaSearch for more papers by this authorAnimesh Das DM, Corresponding Author Animesh Das DM [email protected] orcid.org/0000-0002-0507-1866 Department of Neurology, AIIMS, New Delhi, India Correspondence to: Dr. Animesh Das, Room no-602, CN Centre, All India Institute of Medical Sciences, New Delhi, 110070, India; E-mail: [email protected]Search for more papers by this authorDivya Madathiparambil Radhakrishnan DM, Divya Madathiparambil Radhakrishnan DM orcid.org/0000-0002-0641-7398 Department of Neurology, AIIMS, New Delhi, IndiaSearch for more papers by this authorAwadh Kishor Pandit DM, Awadh Kishor Pandit DM Department of Neurology, AIIMS, New Delhi, IndiaSearch for more papers by this authorAchal Kumar Srivastava DM, Achal Kumar Srivastava DM orcid.org/0000-0002-4590-7947 Department of Neurology, AIIMS, New Delhi, IndiaSearch for more papers by this author Farsana Mustafa MD, Farsana Mustafa MD orcid.org/0000-0001-9499-658X Department of Neurology, AIIMS, New Delhi, IndiaSearch for more papers by this authorAnimesh Das DM, Corresponding Author Animesh Das DM [email protected] orcid.org/0000-0002-0507-1866 Department of Neurology, AIIMS, New Delhi, India Correspondence to: Dr. Animesh Das, Room no-602, CN Centre, All India Institute of Medical Sciences, New Delhi, 110070, India; E-mail: [email protected]Search for more papers by this authorDivya Madathiparambil Radhakrishnan DM, Divya Madathiparambil Radhakrishnan DM orcid.org/0000-0002-0641-7398 Department of Neurology, AIIMS, New Delhi, IndiaSearch for more papers by this authorAwadh Kishor Pandit DM, Awadh Kishor Pandit DM Department of Neurology, AIIMS, New Delhi, IndiaSearch for more papers by this authorAchal Kumar Srivastava DM, Achal Kumar Srivastava DM orcid.org/0000-0002-4590-7947 Department of Neurology, AIIMS, New Delhi, IndiaSearch for more papers by this author First published: 11 February 2024 https://doi.org/10.1002/mdc3.13985Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Cadenas B, Fita-Torró J, Bermúdez-Cortés M, et al. L-ferritin: one gene, five diseases; from hereditary Hyperferritinemia to Hypoferritinemia-report of new cases. Pharmaceuticals (Basel) 2019 Jan 23; 12(1): 17. 10.3390/ph12010017 CASPubMedGoogle Scholar 2Millonig G, Muckenthaler MU, Mueller S. Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. Hum Genomics 2010 Apr; 4(4): 250–262. 10.1186/1479-7364-4-4-250 CASPubMedGoogle Scholar 3Ould Hamed MA, Yassine M. Congenital unilateral lamellar cataract. J Clin Res Ophthlamol 2018; 5(1):13. Google Scholar 4Chinnery PF, Crompton DE, Birchall D, et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 2007 Jan; 130(Pt 1): 110–119. PubMedWeb of Science®Google Scholar 5Kumar N, Rizek P, Jog M. Neuroferritinopathy: pathophysiology, presentation, differential diagnoses and management. Tremor Other Hyperkinet Mov (N Y) 2016 Mar; 17(6): 355. 10.5334/tohm.317 Google Scholar 6Cozzi A, Santambrogio P, Privitera D, et al. Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome. J Exp Med 2013 Aug 26; 210(9): 1779–1791. 10.1084/jem.20130315 CASPubMedWeb of Science®Google Scholar Volume11, Issue4April 2024Pages 424-426 ReferencesRelatedInformation