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Related Concept Videos

Encephalitis ll: Pathophysiology01:26

Encephalitis ll: Pathophysiology

Encephalitis is inflammation of the brain parenchyma caused by direct viral invasion or immune-mediated mechanisms triggered by infections or tumors. Both processes lead to neuronal injury, disrupted neurotransmission, and diverse neurological symptoms, often with overlapping clinical and pathological features.Autoimmune EncephalitisIn autoimmune encephalitis, antibodies target neuronal antigens on cell surfaces, synapses, or within neurons. A key example is anti-NMDAR encephalitis, which can...
Encephalitis l: Introduction01:19

Encephalitis l: Introduction

Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
Cerebral Edema ll: Pathophysiology01:22

Cerebral Edema ll: Pathophysiology

Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this barrier loses...
Hemorrhagic Stroke ll: Pathophysiology01:29

Hemorrhagic Stroke ll: Pathophysiology

A hemorrhagic stroke develops when a cerebral blood vessel ruptures, allowing blood to escape into the surrounding brain tissue, as in intracerebral hemorrhage (ICH), or into the subarachnoid space, as in subarachnoid hemorrhage (SAH). Because the skull is a rigid compartment, the sudden presence of extravascular blood rapidly increases intracranial pressure and compresses adjacent neural structures, leading to immediate tissue injury and impaired cerebral perfusion.Mass Effect and Primary...
Hemorrhagic Stroke l: Introduction01:17

Hemorrhagic Stroke l: Introduction

A hemorrhagic stroke is an acute neurological event that occurs when a weakened cerebral blood vessel ruptures, allowing blood to accumulate within or around the brain. The sudden release of blood forms a focal hematoma that increases intracranial pressure, displaces neural tissue, and can obstruct cerebrospinal fluid pathways. These effects may be compounded by intraventricular extension of the hemorrhage, cerebral edema, or compression of adjacent structures, all of which contribute to...

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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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Published on: October 21, 2014

Siblings with leukoencephalopathy.

Galen N Breningstall1, John Shoffner, Richard J Patterson

  • 1Department of Pediatric Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA. gbreningstall@gillettechildrens.com

Seminars in Pediatric Neurology
|December 17, 2008
PubMed
Summary
This summary is machine-generated.

This study identifies a novel mutation in NDUFV1 causing Complex 1 deficiency in siblings with developmental regression and spasticity. Diffuse leukoencephalopathy is a potential indicator of this mitochondrial disorder.

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mitochondrial Complex 1 deficiency is a significant cause of inherited metabolic disorders.
  • NDUFV1 is a nuclear-encoded gene critical for the function of Complex 1.
  • Neurological manifestations in Complex 1 deficiency can be diverse.

Observation:

  • Two siblings presented with progressive developmental regression and increasing spasticity.
  • Cranial MRI revealed diffuse leukoencephalopathy in both affected individuals.
  • Consanguinity was noted in the family, suggesting a potential autosomal recessive inheritance pattern.

Findings:

  • Genetic analysis identified a novel homozygous mutation in the NDUFV1 gene.
  • This mutation was confirmed to cause Complex 1 deficiency.
  • The identified mutation affects a nuclear-encoded subunit of mitochondrial Complex 1.

Implications:

  • This discovery expands the known genetic causes of Complex 1 deficiency.
  • Diffuse leukoencephalopathy should be considered a potential clinical presentation of Complex 1 deficiency.
  • Understanding this novel mutation aids in diagnosing and potentially managing this rare mitochondrial disease.