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Disorders of the Nervous Tissue01:28

Disorders of the Nervous Tissue

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Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
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Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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Neural Regulation

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Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
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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...
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Lysosomal Hydrolases

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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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Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
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Related Experiment Video

Updated: Apr 16, 2026

A Simple Approach to Induce Experimental Autoimmune Neuritis in C57BL/6 Mice for Functional and Neuropathological Assessments
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Episodic neurological dysfunction in hereditary peripheral neuropathy.

Girish Baburao Kulkarni1, Pooja Mailankody1, Pawanraj Palu Isnwara1

  • 1Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Annals of Indian Academy of Neurology
|March 7, 2015
PubMed
Summary
This summary is machine-generated.

This study reports a rare case of X-linked Charcot-Marie-Tooth disease (CMTX) presenting with transient neurological dysfunction. The genetic mutation identified offers new insights into the varied clinical manifestations of this hereditary neuropathy.

Keywords:
Charcot-Marie tooth diseaseconnexin-32magnetic resonance imagingneurologic manifestations

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Area of Science:

  • Neurology
  • Genetics

Background:

  • Episodic transient neurological symptoms pose diagnostic challenges in clinical neurology.
  • Hereditary neuropathies can present with diverse and sometimes atypical neurological deficits.

Observation:

  • A young male presented with episodic focal neurological dysfunction, a family history of similar episodes, and asymptomatic pes cavus with peripheral neuropathy.
  • Family members had established hereditary neuropathy, and imaging revealed reversible white matter abnormalities.

Findings:

  • Genetic analysis confirmed X-linked Charcot-Marie-Tooth disease type 1 (CMTX) due to a GJB1 gene mutation (c.425G>A; p.R142Q).
  • This specific mutation, previously reported in CMTX, is now associated with transient neurological dysfunction for the first time.

Implications:

  • This case expands the clinical spectrum of CMTX, highlighting transient neurological dysfunction as a potential symptom.
  • The findings underscore the importance of genetic testing in diagnosing rare hereditary neuropathies with unusual presentations.
  • This report represents the first documented case of CMTX with transient neurological dysfunction from India.