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Related Concept Videos

Alterations in Muscle Tone ll01:12

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...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
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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,...
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Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...

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Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
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Functional imaging in hereditary dystonia.

M Carbon1, M Argyelan, D Eidelberg

  • 1Center for Neurosciences, The Feinstein Institute for Medical Research, North Shore - Long Island Jewish Health System, Manhasset, NY 11030, USA. mcarbon@nshs.edu

European Journal of Neurology
|July 2, 2010
PubMed
Summary

Hereditary dystonias involve abnormalities in brain circuits, particularly the cortico-striatal-pallido-thalamocortical (CSPTC) and cerebellar pathways. Cerebellar microstructural changes may be the primary cause, impacting sensorimotor function.

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Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Sporadic focal dystonias exhibit impaired cortical inhibition and maladaptive plasticity.
  • Research is exploring if these mechanisms apply to generalized dystonias and if they are state or trait characteristics.

Purpose of the Study:

  • To investigate functional and microstructural brain abnormalities in hereditary dystonias (DYT1 and DYT6 genotypes).
  • To determine the relationship between these abnormalities and disease characteristics.

Main Methods:

  • Utilized a multitracer positron emission tomography (PET) approach.
  • Employed diffusion tensor MRI (DTI) to study brain structure.
  • Examined individuals with DYT1 and DYT6 genotypes.

Main Results:

  • Identified abnormalities in cortico-striatal-pallido-thalamocortical (CSPTC) and cerebellar-thalamo-cortical circuits.
  • Found genotype-specific abnormalities in the basal ganglia, SMA, and cerebellum.
  • Observed that microstructural changes in cerebellar pathways correlated with disease penetrance, suggesting a primary role.

Conclusions:

  • Primary torsion dystonia is understood as a neurodevelopmental circuit disorder.
  • Involves CSPTC and related cerebellar pathways.