2025年1月4日 · Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare neurometabolic syndrome caused by defective thiamine transporter 2 (THTR2) activity due to …

2013年1月15日 · The brain MRI typically showed symmetric and bilateral lesions in the caudate nucleus and putamen, infra- and supratentorial brain cortex, and in the brainstem. Vasogenic …

Brain MR imaging in 2 different patients with BBGD (A and B, axial FLAIR for patient 1; C and D, axial T2WI for patient 2). In the 2 patients, the pretreatment images (A, C) demonstrate …

2013年11月21日 · In its chronic stage, BTBGD shares clinical features with several conditions including Wilson disease, juvenile Huntington disease, and DYT1 early-onset isolated …

2012年12月26日 · The brain MRI typically showed symmetric and bilateral lesions in the caudate nucleus and putamen, infra- and supratentorial brain cortex, and in the brainstem. Vasogenic …

In addition to the clinical manifestations, characteristic neuroradiological findings of bilateral caudate injury with partial or complete involvement of putamen on brain magnetic resonance …

2013年10月29日 · Brain magnetic resonance imaging (MRI) typically demonstrates bilateral hyperintensity of caudate nucleus and putamen on T2-weighted sequences. In addition, …

2012年12月26日 · Objective: To investigate the clinical, genetic, and neuroradiologic data of biotin-responsive basal ganglia disease (BBGD) and clarify the disease spectrum. Methods: …

Ozand et al.1 demonstrated that the MRI pattern of patients with BBGD is bilateral necrosis in the central part of the caudate heads and part or all of the putamen; our study confirms this, and …

2022年9月29日 · Biotin-responsive basal ganglia disease (BBGD) with SLC19A3 mutation was first reported in 1998, and over 30 mutations have been reported. We report a neonatal BBGD …