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Related Concept Videos

Huntington Disease l: Introduction01:21

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,...
Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

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...
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...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

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...
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
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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In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
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Benign hereditary chorea: an update.

Rivka Inzelberg1, Moran Weinberger, Eva Gak

  • 1Joseph Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, 52621 Tel Hashomer, Israel. inzelber@post.tau.ac.il

Parkinsonism & Related Disorders
|February 5, 2011
PubMed
Summary
This summary is machine-generated.

Benign hereditary chorea (BHC) is a rare genetic disorder causing involuntary movements, breathing issues, and thyroid problems. Mutations in the TTF1 gene are linked to BHC, affecting brain, lung, and thyroid development.

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Area of Science:

  • Genetics
  • Neurology
  • Endocrinology

Background:

  • Benign hereditary chorea (BHC) is a rare autosomal dominant disorder.
  • BHC presents with chorea, hypothyroidism, and respiratory problems, known as "brain-lung-thyroid syndrome".
  • It typically begins in childhood with normal cognition and minimal progression.

Purpose of the Study:

  • To review current knowledge on Benign hereditary chorea (BHC).
  • To highlight updates on clinical aspects, genetics, and molecular mechanisms of BHC.
  • To discuss imaging, treatment, animal models, and cancer links related to BHC.

Main Methods:

  • Literature review of Benign hereditary chorea (BHC).
  • Analysis of genetic markers, specifically mutations in the TTF1 gene.
  • Examination of clinical data, imaging, and treatment experiences.

Main Results:

  • Mutations in the TTF1 gene (encoding thyroid transcription factor-1) are associated with BHC.
  • TTF1 plays a crucial role in brain, thyroid, and lung development.
  • Clinical presentation and genetic findings show heterogeneity among BHC patients.

Conclusions:

  • The TTF1 gene is a key factor in the pathogenesis of Benign hereditary chorea.
  • Understanding TTF1 mutations provides insights into the "brain-lung-thyroid syndrome".
  • Further research is needed on BHC's molecular mechanisms, treatment, and cancer associations.