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Neural Regulation01:37

Neural Regulation

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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Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
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Locus-specific mutation databases for neurodegenerative brain diseases.

Marc Cruts1, Jessie Theuns, Christine Van Broeckhoven

  • 1Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium. marc.cruts@molgen.vib-ua.be

Human Mutation
|May 15, 2012
PubMed
Summary
This summary is machine-generated.

The Alzheimer disease and frontotemporal dementia (AD&FTLD) and Parkinson disease (PD) Mutation Databases track gene variations in neurodegenerative diseases. Analysis shows most mutations are rare, with a few common ones influencing disease presentation.

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Area of Science:

  • Neurogenetics
  • Genomic Medicine
  • Neurology

Background:

  • The Alzheimer disease and frontotemporal dementia (AD&FTLD) and Parkinson disease (PD) Mutation Databases curate genetic variations in Mendelian forms of these neurodegenerative diseases.
  • These databases serve as critical resources for clinicians and researchers seeking detailed genetic, clinical, and biological information on gene mutations.

Purpose of the Study:

  • To analyze aggregated data from the AD&FTLD and PD Mutation Databases to identify mutation characteristics and genotype-phenotype correlations.
  • To understand the distribution and frequency of genetic mutations across different neurodegenerative diseases.

Main Methods:

  • Aggregate analysis of curated sequence variation data from the AD&FTLD and PD Mutation Databases.
  • Statistical analysis of mutation frequency, including private versus common mutations, and identification of frequently observed mutations.

Main Results:

  • 61.4% of mutations are private to a single family, while only 5.7% occur in 10 or more families.
  • The five most frequent mutations account for a significant proportion of observed cases in AD (21%), FTLD (43%), and PD (48%).
  • Most genes are associated with multiple clinical diagnoses, except for PARK2 and PINK1 in PD.

Conclusions:

  • The inherited forms of AD, FTLD, and PD are characterized by a large number of rare mutations and a smaller set of relatively common mutations.
  • Database analyses provide unique insights into mutation patterns and genotype-phenotype relationships in neurodegenerative diseases.
  • Genetic heterogeneity is a key feature, with most genes linked to diverse clinical presentations.