Friedreich ataxia: On MRI, the spinal cord may show a reduction in its anteroposterior diameter, together with changes in signal intensity in its posterior and lateral columns.
Sunday, January 9, 2022
Magnetic resonance imaging evaluation of spinal cord lesions: what can we find? - Part 1. Neoplastic, vascular, metabolic, and traumatic injuries
Pereira RG, Ribeiro BNF, Pereira TRGC, Bahia PRV, Marchiori E.; Radiologia Brasileira. 2021 Nov-Dec;54(6):406-411. DOI: 10.1590/0100-3984.2020.0127. PMID: 34866701; PMCID: PMC8630944.
Transcriptional Analysis of Nuclear-Encoded Mitochondrial Genes in Eight Neurodegenerative Disorders: The Analysis of Seven Diseases in Reference to Friedreich's Ataxia
Elsadany M, Elghaish RA, Khalil AS, Ahmed AS, Mansour RH, Badr E, Elserafy M.; Front Genet. 2021 Dec 20;12:749792. doi: 10.3389/fgene.2021.749792. PMID: 34987545; PMCID: PMC8721009.
In this study, we analyzed the transcriptional changes of nuclear-encoded mitochondrial (NEM) genes in eight NDDs to specifically address the association of these genes with the diseases. Previous studies show strong links between defects in NEM genes and neurodegeneration, yet connecting specific genes with NDDs is not well studied. Friedreich's ataxia (FRDA) is an NDD that cannot be treated effectively; therefore, we focused first on FRDA and compared the outcome with seven other NDDs, including Alzheimer's disease, amyotrophic lateral sclerosis, Creutzfeldt-Jakob disease, frontotemporal dementia, Huntington's disease, multiple sclerosis, and Parkinson's disease.
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