Background And Purpose: Although various neuropsychological problems in Becker muscular dystrophy have attracted attention, there have been few related neuroimaging studies. We investigated brain abnormalities in patients with Becker muscular dystrophy using 3D T1WI and DTI.
Materials And Methods: MR images were obtained for 30 male patients and 30 age-matched healthy male controls. We classified patients into Dp140+ and Dp140- subgroups based on their predicted dystrophin Dp140 isoform expression and performed voxel-based comparisons of gray and white matter volumes and DTI metrics among the patients, patient subgroups, and controls. ROI-based DTI analyses were also performed.
Results: Significantly decreased fractional anisotropy was observed in the left planum temporale and right superior parietal lobule compared between the Becker muscular dystrophy and control groups. In the Dp140- subgroup, decreased fractional anisotropy was observed in the left planum temporale, but no significant changes were seen in the Dp140+ subgroup. The ROI-based analysis obtained the same results. No significant differences were evident in the gray or white matter volumes or the DTI metrics other than fractional anisotropy between the groups.
Conclusions: A DTI metric analysis is useful to detect white-matter microstructural abnormalities in Becker muscular dystrophy that may be affected by the Dp140 isoform expression.
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http://dx.doi.org/10.3174/ajnr.A8041 | DOI Listing |
Neurol Genet
February 2025
Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, Binghamton, NY.
J Genet Eng Biotechnol
December 2024
Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Egypt. Electronic address:
Duchenne muscular dystrophy (DMD/BMD) is the most common type of muscular dystrophy, together with Becker muscular dystrophy represent more than half of all cases. DMD is a single-gene, X-linked recessive disorder that predominantly affects boys, causing progressive muscle deterioration and eventually leading to fatal cardiopulmonary complications. This study aimed to implement a cost-effective molecular diagnostic method using the SALSA MLPA Kit (probe mixes 034 and 035) to screen a large group of Egyptian DMD patients.
View Article and Find Full Text PDFJ Med Genet
December 2024
Revvity Omics, Waltham, Massachusetts, USA
Background: Pathogenic variants in the gene are associated with dystrophinopathy including Duchenne and Becker muscular dystrophy (DMD/BMD). Targeted gene, gene panels, exomes and genome sequencing have advanced genetic diagnostics, yet some cases remain elusive.
Methods: We performed total RNA sequencing (RNAseq) on muscle biopsy from 13 male patients with a clinical diagnosis of DMD/BMD.
Front Neurosci
November 2024
Department of Pediatrics, West China Second University Hospital, Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), Chengdu, Sichuan, China.
Background: Becker muscular dystrophy (BMD) is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis, caused by mutations in the DMD gene, which encodes dystrophin protein. Different from Duchenne Muscular Dystrophy (DMD), in which dystrophin is completely absent in muscle tissue, while in BMD, the dystrophin gene can express some protein, but not enough. It has also been shown that a proportion of patients with DMD suffer from attention deficit hyperactivity disorder (ADHD), and the use of the stimulant methylphenidate has been suggested for the treatment of patients with DMD in combination with ADHD.
View Article and Find Full Text PDFKlin Padiatr
December 2024
Pädiatrische Pneumologie, Klinik für Kinderheilkunde III, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Duchenne muscular dystrophy is the most common inherited neuromuscular disease in children. In addition to the progressive loss of motor skills and cardiac involvement, respiratory muscle weakness leads to a restrictive lung disease and cough insufficiency. Specific respiratory interventions have significantly improved survival and quality of life of the affected boys.
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