OBJECTIVE: To report the first 2 European cases of biotin-responsive basal ganglia disease and novel SLC19A3 mutations. DESIGN: Case reports. SETTING: University hospital. Patients A 33-year-old man and his 29-year-old sister, both of Portuguese ancestry, presented with recurrent episodes of encephalopathy. Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the caudate and putamen. MAIN OUTCOME MEASURES: Clinical and radiologic findings. RESULTS: Administration of high doses of biotin or of a combination of biotin and thiamine during encephalopathies resulted in spectacular clinical and radiologic improvement in both patients. Sequencing of the SLC19A3 disclosed 2 novel mutations, both of which created premature stop codons in the protein sequence of hTHTR2. CONCLUSION: This study demonstrates that biotin-responsive basal ganglia disease is a panethnic condition. A therapeutic trial with high doses of biotin and thiamine seems mandatory in every unexplained encephalopathy with bilateral lesions of putamen and caudate nuclei.
OBJECTIVE: To report the first 2 European cases of biotin-responsive basal ganglia disease and novel SLC19A3 mutations. DESIGN: Case reports. SETTING: University hospital. Patients A 33-year-old man and his 29-year-old sister, both of Portuguese ancestry, presented with recurrent episodes of encephalopathy. Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the caudate and putamen. MAIN OUTCOME MEASURES: Clinical and radiologic findings. RESULTS: Administration of high doses of biotin or of a combination of biotin and thiamine during encephalopathies resulted in spectacular clinical and radiologic improvement in both patients. Sequencing of the SLC19A3 disclosed 2 novel mutations, both of which created premature stop codons in the protein sequence of hTHTR2. CONCLUSION: This study demonstrates that biotin-responsive basal ganglia disease is a panethnic condition. A therapeutic trial with high doses of biotin and thiamine seems mandatory in every unexplained encephalopathy with bilateral lesions of putamen and caudate nuclei.
Authors: Kuixing Zhang; Matthew J Huentelman; Fangwen Rao; Eric I Sun; Jason J Corneveaux; Andrew J Schork; Zhiyun Wei; Jill Waalen; Jose Pablo Miramontes-Gonzalez; C Makena Hightower; Adam X Maihofer; Manjula Mahata; Tomi Pastinen; Georg B Ehret; Nicholas J Schork; Eleazar Eskin; Caroline M Nievergelt; Milton H Saier; Daniel T O'Connor Journal: J Am Coll Cardiol Date: 2014-02-05 Impact factor: 24.094
Authors: Wolfgang Sperl; Leanne Fleuren; Peter Freisinger; Tobias B Haack; Antonia Ribes; René G Feichtinger; Richard J Rodenburg; Franz A Zimmermann; Johannes Koch; Isabel Rivera; Holger Prokisch; Jan A Smeitink; Johannes A Mayr Journal: J Inherit Metab Dis Date: 2014-12-20 Impact factor: 4.982
Authors: Felix Distelmaier; Peter Huppke; Peter Pieperhoff; Katrin Amunts; Jörg Schaper; Eva Morava; Ertan Mayatepek; Jürgen Kohlhase; Michael Karenfort Journal: JIMD Rep Date: 2013-10-29