Related Experiment Video
Updated: Jun 5, 2026

09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The m.14484T>C MT-ND6 Mutation Presenting with a Hereditary Spastic-Paraparesis Phenotype
Gabriel Amorelli1,2,3, Christelle Nilles4, Gerald Pfeffer5,6
1Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Movement Disorders Clinical Practice
|June 3, 2026
Summary
No abstract available in PubMed .
More Related Videos
Related Concept Videos
Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Alterations in Muscle Tone ll
Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...

