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Related Concept Videos

Huntington Disease l: Introduction01:21

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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...
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Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Depressive disorders result from a complex interplay of biological, psychological, and sociocultural factors, each contributing uniquely to the development and persistence of the condition. Understanding these factors provides critical insight into the multifaceted nature of depression.
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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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Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.

Kevin F Bieniek1, Marka van Blitterswijk2, Matthew C Baker2

  • 1Department of Neuroscience, Mayo Clinic, Jacksonville, Florida2Mayo Graduate School, Mayo Clinic College of Medicine, Rochester, Minnesota.

JAMA Neurology
|April 24, 2014
PubMed
Summary
This summary is machine-generated.

The C9ORF72 repeat expansion, a known cause of dementia and ALS, was found in two patients with refractory depression. This finding broadens the clinical spectrum of this genetic mutation to include psychiatric disorders.

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Area of Science:

  • Neurogenetics
  • Neuropathology
  • Psychiatry

Background:

  • Expanded hexanucleotide repeats in C9ORF72 are a primary genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis.
  • These repeat expansions have been infrequently identified in other neurodegenerative conditions like Alzheimer disease and Parkinsonian disorders.

Purpose of the Study:

  • To investigate the incidence of C9ORF72 repeat expansions in individuals diagnosed with depressive pseudodementia.
  • To expand the understanding of the clinicopathologic spectrum associated with C9ORF72 repeat expansions.

Main Methods:

  • Screening of 31 cases from a neurodegenerative disorders brain bank.
  • Immunohistochemistry using a C9RANT antibody to detect the hexanucleotide repeat.
  • Validation of repeat presence using repeat-primed polymerase chain reaction and Southern blotting.

Main Results:

  • Two individuals (both male) with refractory depression were found to harbor the C9ORF72 repeat expansion.
  • One patient presented with drug-induced parkinsonism and sudden-onset dementia.
  • The other patient exhibited a more gradual disease progression, initially suspected as Alzheimer disease.

Conclusions:

  • This study identifies depressive pseudodementia as a potential clinical presentation of C9ORF72 repeat expansions.
  • The findings broaden the known clinicopathologic range of C9ORF72-associated neurodegenerative and psychiatric disorders.