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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...
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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 lll01:11

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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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Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
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Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...
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Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...

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Related Experiment Video

Updated: Jun 17, 2026

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
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Novel THAP1 sequence variants in primary dystonia.

J Xiao1, Y Zhao, R W Bastian

  • 1Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA.

Neurology
|January 20, 2010
PubMed
Summary
This summary is machine-generated.

THAP1 gene variants are linked to primary dystonia, affecting various body parts and onset ages. This study identified novel mutations in adult-onset dystonia cases, expanding our understanding of the disease.

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • The THAP1 gene encodes a transcription factor crucial for cell proliferation.
  • Mutations in THAP1, specifically an exon 2 frameshift, cause DYT6 dystonia.
  • Previous research identified THAP1 variants in early-onset dystonia, prompting further investigation.

Purpose of the Study:

  • To investigate THAP1 sequence variants in a large cohort of primarily adult-onset primary dystonia patients.
  • To identify potential genetic links between THAP1 and adult-onset dystonia.

Main Methods:

  • Screening of all 3 THAP1 exons using high-resolution melting in 1,114 adult-onset primary dystonia patients, 96 unclassified dystonia patients, and 600 controls.
  • Sequencing of THAP1 exons in 200 dystonia patients and 200 controls to confirm variants.

Main Results:

  • Nine unique melting curves were detected in 19 subjects from 16 families with primary dystonia and one control.
  • Six novel missense mutations in conserved THAP1 regions were identified, associated with diverse dystonia types (cervical, masticatory, arm, laryngeal, generalized).
  • Several other THAP1 variants, including missense, silent, and intronic, were found in patients with various dystonia presentations, with some also present in controls.

Conclusions:

  • A diverse range of THAP1 sequence variants are associated with primary dystonia.
  • These variants correlate with varying symptom onset ages and anatomical distributions in both familial and sporadic cases.
  • The findings highlight THAP1 as a significant gene in the genetic landscape of primary dystonia.