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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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Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

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Related Experiment Video

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Abnormal structure-function relationships in hereditary dystonia.

M Carbon1, D Eidelberg

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

Neuroscience
|January 24, 2009
PubMed
Summary

Primary torsion dystonia (PTD) is a neurodevelopmental circuit disorder. Imaging reveals metabolic and connectivity abnormalities in mutation carriers, offering insights into disease penetrance and potential treatments.

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Area of Science:

  • Neuroscience
  • Genetics
  • Movement Disorders

Background:

  • Primary torsion dystonia (PTD) is a chronic movement disorder characterized by sustained muscle contractions and abnormal postures.
  • Inherited forms of PTD are linked to specific gene mutations (DYT1, DYT6) with incomplete clinical penetrance (around 30%).
  • PTD is increasingly viewed as a neurodevelopmental disorder affecting cortico-striatal-pallido-thalamocortical (CSPTC) pathways.

Purpose of the Study:

  • To investigate functional and microstructural brain abnormalities in manifesting and non-manifesting carriers of PTD-associated mutations.
  • To explore the relationship between genotype, phenotype, clinical penetrance, and brain imaging findings.
  • To understand the neurobiological underpinnings of PTD and identify potential therapeutic targets.

Main Methods:

  • Positron emission tomography (PET) to assess regional brain metabolism.
  • Diffusion tensor magnetic resonance imaging (DTI) to evaluate white matter microstructure and connectivity.
  • Analysis of resting regional metabolism and motor activation responses in mutation carriers.

Main Results:

  • Consistent metabolic abnormalities were observed in PTD, involving interconnected elements of CSPTC and related pathways.
  • Genotype-specific metabolic changes in the striatum correlated with D(2) receptor availability.
  • A unique penetrance-related metabolic network was identified, with increased activity in pre-supplementary motor area (SMA) and parietal regions, and decreased activity in the cerebellum, brainstem, and ventral thalamus.
  • DTI data suggest metabolic abnormalities may reflect adaptive responses to altered motor pathway connectivity.
  • Increased motor activation responses in carriers are consistent with reduced cortical inhibition.

Conclusions:

  • PTD is a neurodevelopmental circuit disorder with distinct metabolic and microstructural brain alterations.
  • These abnormalities are linked to genotype, phenotype, and clinical penetrance, particularly involving CSPTC pathways.
  • Future research should focus on the relationship between these findings and clinical penetrance, and explore treatment reversibility.