Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies

Andres Moreno-De-Luca1, David H Ledbetter, Christa L Martin

  • 1Genomic Medicine Institute, Geisinger Health System, Danville, PA, USA. amorenodeluca@geisinger.edu

The Lancet. Neurology
|January 21, 2012
PubMed

Insights

Cerebral palsy, a common childhood disability, is often genetic, not just environmental. Advances in genome sequencing will help identify new genes and lead to targeted therapies.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Cerebral palsy is the most common childhood physical disability, characterized by lifelong impairments in movement and posture.
  • While often linked to environmental factors like birth asphyxia, the exact cause of cerebral palsy is unknown in most cases.
  • Emerging evidence suggests a significant role for multiple genetic factors, similar to other neurodevelopmental disorders.

Purpose of the Study:

  • To highlight the likely genetic underpinnings of cerebral palsy.
  • To emphasize the potential of next-generation sequencing in identifying novel causative genes.
  • To underscore the future development of genomically guided therapeutic interventions for cerebral palsy.

Main Methods:

  • Review of current evidence on cerebral palsy etiology.
  • Discussion of the impact of next-generation sequencing technologies.
  • Exploration of the link between genetic discoveries and therapeutic strategies.

Main Results:

  • Cerebral palsy is increasingly recognized as a multifactorial disorder with a strong genetic component.
  • Next-generation sequencing enables cost-effective and comprehensive human genome analysis.
  • Identification of novel cerebral palsy genes is anticipated with wider adoption of genomic approaches.

Conclusions:

  • Genetic factors play a crucial role in the etiology of cerebral palsy.
  • Genomic sequencing technologies are pivotal for advancing our understanding and diagnosis of cerebral palsy.
  • Increased knowledge of cerebral palsy's genetic basis will facilitate the development of precise, genomically guided treatments.

Related Concept Videos

Seizures: Classification01:13

Seizures: Classification

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.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Epilepsy ll: Types01:22

Epilepsy ll: Types

Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
Prosopagnosia01:24

Prosopagnosia

Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
Seizures l: Introduction01:20

Seizures l: Introduction

Understanding seizures and epilepsy relies on key definitions that help in recognizing, classifying, and managing these disorders. These definitions provide a framework for recognizing, classifying, and managing seizure disorders.DefinitionsA seizure is a sudden, abnormal burst of electrical activity in the brain that can cause changes in awareness, movement, sensation, or behavior, depending on the area involved. Epilepsy is a chronic condition characterized by recurrent, unprovoked seizures,...
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...
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...