Dystonia - Wiley Online Library

Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings

Abstract Background and Objectives: To better understand tissue changes, physical characteristics such as quantity, iron deposition, and diffusion, structural magnetic resonance techniques have been used in neurological disorders. This paper seeks to provide an overview of methodological studies in structural brain imaging of dystonia cohorts, as well as identify commonly used pathways, networks, or regions that are implicated in pathogenesis.

Source link: https://onlinelibrary.wiley.com/doi/10.1111/ene.15483

Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias

Hereditary spastic paraplegias are a group of hereditary, neurodegenerative disorders characterized by progressive gait impairment, decreased extremity spasticity, and elevated patellar reflexes. A new neurological finding is often associated with lower limb spasticity and gait impairment in complex situations. Autosomal recessive HSPs are usually identified in complicated ways and are becoming more popular in countries where consanguineous marriage is more common. The identification of several new forms of HSP and lowering the odyssey can be diagnosed up to 75% of undiagnosed HSP patients. u201d Whole exome sequencing, which was pioneered in the last decade, has resulted in the discovery of several new types of HSP and reduced the u201cdiagnostic odyssey. AR spastic paraplegia type 64 is a rare HSP caused by a deletion of the ectonucleoside triphosphate diphosphate diphosphorotolase 1 gene that was first identified in 2014.

Source link: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62878

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