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AicardiGoutieres syndrome

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It is autosomal and is on a gene. It is on one of the other 22 chromosomes (not on sex chromosome) ... Confuses many people because AGS contains many different parts. ... – PowerPoint PPT presentation

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Title: AicardiGoutieres syndrome


1
Aicardi-Goutieres syndrome
  • Dan Becker

2
Aicardi-Goutieres syndrome
  • AGS
  • Pseudo-TORCH syndrome (believed to be the same
    but a different name)

3
Mode of Inheritance
  • It is autosomal and is on a gene
  • It is on one of the other 22 chromosomes (not on
    sex chromosome)
  • The gene is recessive
  • There have been 80 cases since it first appeared
    in 1984

4
Punnett Square
  • Both parents must be heterozygous because if you
    have the disease you cannot reproduce

5
Symptoms of the Disorder and Detection
  • mental and physical handicap associated with
    calcification of the basal ganglia, particularly
    the putamen, globus pallidus, and thalamus
    leukodystrophy cerebral atrophy chronic
    cerebrospinal fluid (CSF) leukocytosis and
    increased concentration of interferon-alpha in
    the CSF.

6
Diagnostic Testing
  • There are three main ways that Aicardi-Goutieres
    syndrome
  • 1) A CT scan of the head
  • 2) A spinal tap - this tests for an elevated
    white blood cell count and alpha-interferon
  • 3) Skin biopsy

7
Prognosis
  • There is no survival rate and you do not live
    very long
  • At age twelve a person with AGS would have no
    white blood cells left
  • There is no know treatment for it

8
Additional Health Problems
  • There are no treatments for AGS
  • People with AGS have similar symptoms to Rubella,
    herpes virus, cytomegalovirus
  • Confuses many people because AGS contains many
    different parts. Such as leukodystrophy and
    Cockayne Syndrome (CS).

9
Treatment
  • There is no treatment

10
Current Research
  • Recently there have been many new symptoms that
    have been found and what one reason of the
    severity of this disease. It is that an enzyme
    that is made called nucleases. Without this
    enzyme the body attacks the waste made by DNA
    because the nucleases does not clean it up. This
    ends up killing/ destroying the DNA and RNA

11
Genetic Counseling
  • For Genetic Counseling to be available for anyone
    for this disease the person must have had someone
    in their family with the disease. This is because
    it is a very hard, complicated, long, and
    expensive process.

12
Shows that kids with AGS must have AGS because
they do not have any of these diseases.
13
Both of these CT scans show calcium spots in the
brain that should not be in it. This is a symptom
of AGS
14

15
CT scan Enlarged ventricles and subcortical
calcifications in both hemispheres
16
These CT scans also show the calcium deposits
that are a symptom of someone with AGS
17
Additional Interesting Facts
  • This disorder cam appear anywhere in the world
    because it is not affected by the environment
  • This disease is masked and presents symptoms of
    many other diseases
  • Pseudo-TORCH syndrome is considered the same as
    AGS because they are almost identical in symptoms
    and what they do to the body.

18
Credits
  • http//www.genetests.org/servlet/access?id8888891
    key8doXGQSZWvpB6gryINSERTGRYfcnyfw036tfil
    ename/glossary/profiles/ags/details.htmlSummary
  • http//www.aicardi-goutieres.com/
  • Aicadi-Goutrières syndrome by Françoise
    Goutrières
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