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| http://dx.doi.org/10.4274/tjh.2017.0423 | DOI Listing |
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Intradural extramedullary tuberculoma in a case of disseminated tuberculosis: A case report.
Surg Neurol Int
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Department of Orthopedics, KEM Hospital and Seth GS Medical College, Mumbai, Maharashtra, India.
Background: Intradural extramedullary tuberculoma of the spinal cord (IETSC) is an exceedingly rare manifestation of tuberculosis (TB) affecting the central nervous system.
Case Description: A 33-year-old immunocompetent female with disseminated TB, including pulmonary involvement and leptomeningeal tuberculomas, developed progressive paraplegia and urinary incontinence over 2 months. Magnetic resonance imaging revealed diffuse intradural extramedullary soft tissue from C7 to L2 vertebral levels, indicative of abscess formation and severe spinal cord compression.
Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.
Eur J Neurol
January 2025
Brain and Mind Centre, University of Sydney, Camperdown, New South Wales, Australia.
Article Synopsis
- CTX (cerebrotendinous xanthomatosis) is a rare genetic lipid storage disease that can be difficult to diagnose due to its varied symptoms, often leading to confusion with other conditions like hereditary spastic paraplegia (HSP).
- A case study of a 53-year-old woman showed a 25-year history of spastic paraparesis and, after years of undiagnosed progression, she was finally diagnosed with CTX through genetic testing revealing a variant in the CYP27A1 gene.
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C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).
Eur J Hum Genet
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Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.
View Article and Find Full Text PDFSTUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.
Mov Disord Clin Pract
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Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Restoring adapter protein complex 4 function with small molecules: an in silico approach to spastic paraplegia 50.
Protein Sci
January 2025
Department of Molecular Biotechnology and Health Sciences, University of Torino, Torino, Italy.
This study focuses on spastic paraplegia type 50 (SPG50), an adapter protein complex 4 deficiency syndrome caused by mutations in the adapter protein complex 4 subunit mu-1 (AP4M1) gene, and on the downstream alterations of the AP4M1 protein. We applied a battery of heterogeneous computational resources, encompassing two in-house tools described here for the first time, to (a) assess the druggability potential of AP4M1, (b) characterize SPG50-associated mutations and their 3D scenario, (c) identify mutation-tailored drug candidates for SPG50, and (d) elucidate their mechanisms of action by means of structural considerations on homology models of the adapter protein complex 4 core. Altogether, the collected results indicate R367Q as the mutation with the most promising potential of being corrected by small-molecule drugs, and the flavonoid rutin as best candidate for this purpose.
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