AI Article Synopsis
Article Abstract
The clinical features of four families with autosomal dominant spastic paraparesis (FSP) are described, along with the results of linkage analysis to markers from the regions of chromosomes 2, 14, and 15 which are known to contain spastic paraplegia genes. All families had 'pure' spastic paraparesis (FSP), but the severity of symptoms varied widely among families, and other mild neurologic signs were observed in some subjects. Although no family individually yielded a lod score >3.0, all families yielded positive lod scores with chromosome 2 markers, and a maximal lod score of 5.7 was obtained for the families combined using marker D2S352. There was no evidence of linkage to chromosome 14 or 15 in any of the families.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000022798 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Understanding paraplegia post-CABG: mechanisms, risks, and prevention.
Indian J Thorac Cardiovasc Surg
February 2025
Department of Cardiovascular Surgery, Dr. Siyami Ersek Thoracic And Cardiovascular Surgery Education Research Hospital, Üsküdar, Turkey.
Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disease that causes recurrent neuritis and myelitis. Ravulizumab, a complement protein C5 inhibitor, was developed to treat NMOSD. However, its efficacy in improving symptoms remains unclear.
View Article and Find Full Text PDFBiallelic variants in SREBF2 cause autosomal recessive spastic paraplegia.
J Genet Genomics
January 2025
Department of Medical Genetics and Center for Rare Diseases, the Second Affiliated Hospital of Zhejiang University School of Medicine, and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Hangzhou, Zhejiang 310009, China; Nanhu Brain-computer Interface Institute, Hangzhou, Zhejiang 311100, China; MOE Frontier Science Center for Brain Research and Brain-Machine Integration, School of Brain Science and Brain Medicine, Zhejiang University, Hangzhou, Zhejiang 310012, China; CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai 200031, China; Lead contact. Electronic address:
Hereditary spastic paraplegias (HSPs) refer to a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by the degeneration of motor neurons. To date, a significant number of patients still have not received a definite genetic diagnosis. Therefore, identifying unreported causative genes continues to be of great importance.
View Article and Find Full Text PDFIntrathecal Baclofen Pump Wean and Risk of Exposure in a Large TBSA Burn Wound Patient: A Case Report.
J Burn Care Res
January 2025
Indiana University, Division of Plastic Surgery, Indianapolis, IN, USA.
Burn injuries in patients with significant pre-existing medical conditions provide unique challenges in both medical management and surgical planning. Spasticity, if left untreated, can be one of the most disabling consequences of a neurologic injury. Treatment is largely dependent on pharmacologic management with anti-spasmodic agents such as baclofen.
View Article and Find Full Text PDFSciatic nerve analysis in thyroid hormone transporter Mct8 and Oatp1c1 knockout mice.
Eur Thyroid J
January 2025
H Heuer, Department of Endocrinology, Diabetes and Metabolism, University of Duisburg-Essen, Essen, Germany.
Objective: Mutations in the thyroid hormone (TH) transporter monocarboxylate transporter 8 (MCT8) cause Allan-Herndon-Dudley syndrome (AHDS), a severe form of psychomotor retardation with muscle hypoplasia and spastic paraplegia as key symptoms. These abnormalities have been attributed to an impaired TH transport across brain barriers and into neural cells thereby affecting brain development and function. Likewise, Mct8/Oatp1c1 (organic anion transporting polypeptide 1c1) double knockout (M/Odko) mice, a well-established murine AHDS model, display a strongly reduced TH passage into the brain as well as locomotor abnormalities.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!