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Related Concept Videos

Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

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Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
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Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and...
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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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Related Experiment Video

Updated: Apr 23, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions.

Sonja W Scholz1, Elisa Majounie2, Tamas Revesz3

  • 1Department of Neurology, Johns Hopkins Hospital, Baltimore, MD, USA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Neurobiology of Aging
|October 5, 2014
PubMed
Summary
This summary is machine-generated.

Genetic screening found no C9orf72 repeat expansions in Multiple System Atrophy (MSA) cases. This suggests that C9orf72 gene expansions do not cause this fatal neurodegenerative disorder.

Keywords:
Amyotrophic lateral sclerosisC9orf72Fronto-temporal dementiaMultiple system atrophyNeurodegeneration

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Area of Science:

  • Neurodegenerative diseases
  • Genetics of neurodegeneration
  • Molecular biology of neurodegenerative disorders

Background:

  • Multiple system atrophy (MSA) is a fatal neurodegenerative disorder characterized by ataxia, parkinsonism, and autonomic dysfunction.
  • The C9orf72 gene hexanucleotide repeat expansion is a known cause of other neurodegenerative conditions, including frontotemporal dementia and amyotrophic lateral sclerosis.

Purpose of the Study:

  • To investigate whether pathogenic expansions in the C9orf72 gene are a cause of Multiple System Atrophy (MSA).

Main Methods:

  • Genetic screening was performed on DNA samples from 100 neuropathologically confirmed cases of MSA.
  • Analysis focused on detecting pathogenic hexanucleotide repeat expansions in the C9orf72 gene.

Main Results:

  • No pathogenic C9orf72 repeat expansions were detected in any of the 100 MSA cases analyzed.
  • This finding indicates a lack of association between C9orf72 expansions and the studied MSA cohort.

Conclusions:

  • The results suggest that C9orf72 gene repeat expansions are not a cause of Multiple System Atrophy (MSA).
  • MSA is likely not a C9orf72-related neurodegenerative disease, warranting further research into other genetic and etiological factors.