eMedicine Specialties > Neurology > Movement and Neurodegenerative Diseases

Primary Torsion Dystonia: Multimedia

Author: Rowena Emilia Tabamo, MD, Associate Director for Clinical Research, Institute for Neurodegenerative Disorders
Coauthor(s): Michele Tagliati, MD, Division Chief of Movement Disorders, Associate Professor, Department of Neurology, Mount Sinai School of Medicine; Susan B Bressman, MD, Chairperson, Department of Neurology,, Department of Neurology, St. Luke's-Roosevelt Hospitals; Professor, Beth Israel Deaconess Medical Center; Chairperson, Department of Neurology, Albert Einstein College of Medicine
Contributor Information and Disclosures

Updated: Mar 30, 2007

Multimedia

Idiopathic torsion dystonia. Major nuclear comple...
(Enlarge Image)
Media file 1: Idiopathic torsion dystonia. Major nuclear complex of the basal ganglia is the striatum, which is composed of the caudate and putamen. The striatum receives glutamatergic input from the cerebral cortex and dopaminergic input from the substantia nigra pars compacta (SNc). Two types of spiny projection neurons receive cortical and nigral inputs: those that project directly and those that project indirectly to the internal segment of the globus pallidus (GPI), which is the major output site of the basal ganglia. Complementary action of both of these pathways regulates the overall function of the GPI. The GPI, which, in turn, provides tonic inhibitory (ie, gamma-aminobutyric acid [GABA]–ergic) discharges downstream into the thalamic nuclei that project to the frontal cortical and other CNS areas.Direct pathway (D1) inhibits the substantia nigra pars reticulata (SNr) and the GPI, which are the major output sites, resulting in a net disinhibition and facilitation of thalamocortical circuits. Indirect pathway (D2), through serial connections with the globus pallidus pars externa (GPe) and the subthalamic nucleus (STN), is excitatory to the GPI, resulting in further inhibitory action on thalamocortical pathways. In this model, the mean discharge rate of the GPI is the key factor that determines a hypokinetic or hyperkinetic movement disorder. Increased inhibitory influences of the GPI on the thalamocortical circuitry result in hypokinetic disorders, such as Parkinson disease, whereas decreased GPI activity results in hyperkinetic disorders, such as hemiballismus. VL = ventrolateral thalamus.
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Idiopathic torsion dystonia. Major nuclear comple...

Idiopathic torsion dystonia. Major nuclear complex of the basal ganglia is the striatum, which is composed of the caudate and putamen. The striatum receives glutamatergic input from the cerebral cortex and dopaminergic input from the substantia nigra pars compacta (SNc). Two types of spiny projection neurons receive cortical and nigral inputs: those that project directly and those that project indirectly to the internal segment of the globus pallidus (GPI), which is the major output site of the basal ganglia. Complementary action of both of these pathways regulates the overall function of the GPI. The GPI, which, in turn, provides tonic inhibitory (ie, gamma-aminobutyric acid [GABA]–ergic) discharges downstream into the thalamic nuclei that project to the frontal cortical and other CNS areas.Direct pathway (D1) inhibits the substantia nigra pars reticulata (SNr) and the GPI, which are the major output sites, resulting in a net disinhibition and facilitation of thalamocortical circuits. Indirect pathway (D2), through serial connections with the globus pallidus pars externa (GPe) and the subthalamic nucleus (STN), is excitatory to the GPI, resulting in further inhibitory action on thalamocortical pathways. In this model, the mean discharge rate of the GPI is the key factor that determines a hypokinetic or hyperkinetic movement disorder. Increased inhibitory influences of the GPI on the thalamocortical circuitry result in hypokinetic disorders, such as Parkinson disease, whereas decreased GPI activity results in hyperkinetic disorders, such as hemiballismus. VL = ventrolateral thalamus.

More on Primary Torsion Dystonia

Overview: Primary Torsion Dystonia
Differential Diagnoses & Workup: Primary Torsion Dystonia
Treatment & Medication: Primary Torsion Dystonia
Follow-up: Primary Torsion Dystonia
Multimedia: Primary Torsion Dystonia
References
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Further Reading

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Keywords

PTD, DMD, dystonia musculorum deformans, movement disorder, Oppenheim disease, Oppenheim's disease, primary torsion dystonia, idiopathic torsion dystonia, DYT1 gene

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Contributor Information and Disclosures

Author

Rowena Emilia Tabamo, MD, Associate Director for Clinical Research, Institute for Neurodegenerative Disorders
Rowena Emilia Tabamo, MD is a member of the following medical societies: American Academy of Neurology and Movement Disorders Society
Disclosure: Nothing to disclose.

Coauthor(s)

Michele Tagliati, MD, Division Chief of Movement Disorders, Associate Professor, Department of Neurology, Mount Sinai School of Medicine
Michele Tagliati, MD is a member of the following medical societies: American Academy of Neurology, American Medical Association, and Movement Disorders Society
Disclosure: Nothing to disclose.

Susan B Bressman, MD, Chairperson, Department of Neurology,, Department of Neurology, St. Luke's-Roosevelt Hospitals; Professor, Beth Israel Deaconess Medical Center; Chairperson, Department of Neurology, Albert Einstein College of Medicine
Susan B Bressman, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Medical Editor

Stephen T Gancher, MD, Adjunct Associate Professor, Department of Neurology, Oregon Health Sciences University
Stephen T Gancher, MD is a member of the following medical societies: American Academy of Neurology, American Neurological Association, and Movement Disorders Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Nestor Galvez-Jimenez, MD, Program Director of Movement Disorders, Department of Neurology, Division of Medicine, Director of Neurology Residency Training Program, Cleveland Clinic Florida
Nestor Galvez-Jimenez, MD is a member of the following medical societies: American Academy of Neurology, American College of Physicians, and Movement Disorders Society
Disclosure: Nothing to disclose.

CME Editor

Selim R Benbadis, MD, Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital
Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association
Disclosure: Nothing to disclose.

Chief Editor

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

 
 
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