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32 Cards in this Set

  • Front
  • Back
What kind of diagnosis is made with Rett Syndrome?
Clinical because not all presentations have the mutation.
How are babies with Rett Syndrome described?
Good, quiet babies...too quiet.
Shortly after birth, there is a deceleration in the growth of what?
The head
Babies with Rett syndrome are often mis-diagnosed with what?
What is characteristic about the child's overall progression?
They develop purposeful hand movements and vocabulary and then lose them.
When do the stereotypic hand movements present?
During the day; 12-18 months
How would you describe the gait of someone with this disorder?
What about the patient's breathing is a characteristic of Rett?
Hyperventilation and breath holding
What are the girls at an increased risk for?
Is this disease recurrent in families?
Where is the genetic variation?
The X chromosome
How are some girls more heavily affected than others?
Skewed x-inactivation
Can Rett syndrome girls conceive?
Yes they undergo puberty at a normal time.
What percentage of normal brain weight do Rett syndrome patients have?
What is the normal life expectancy?
35 years of age
What specific areas of the brain are reduced?
Frontal, temporal and the caudate and substantia nigra (melanin areas)
Is there neurodegeneration in these patients?
No there is only loss of neuron size due to small dendritic arbor.
What protein is affected in Rett syndrome? What is its job?
Methyl-CpG binding protein 2; transcriptional repressor
What sort of gradient in normal tissues is seen with the affected protein?
Rostral to caudal
What domain of the protein binds to the CpG dinucleotide? What exons?
Methyl binding domain; 3 and 4
What are the two active domains in the affected protein?
What are milder forms of the disease associated with in relation to the mutation
Seen in the C-terminus
Which variant of the affected protein is expressed highly in the brain?
Phenotypes seen in females (6)
1. Rett Syndrome
2. Speech Variant
3. Delayed onset 3-4 years
4. Mild learning disabilities
5. Angelman syndrome
6. Normal carriers
Phenotypes in males (4)
1. Fatal encephalopathy
2. Rett/Klinefelter
3. X-linked mental retardation
4. Somatic mosaicism
What mutation is the most severe in Rett syndrome?
Nonsense mutations
Were there differences in severity based on the two active sites?
Mis-sense mutations in the C-terminus had a phenotype of?
X-linked mental retardation
What is being used as a therapy for Rett syndrome?
Folate-betaine as a CpG binding protein alternative
What are some ocular problems that can develop in Rett patients?
Temporary strabismus
What is the abnormal positioning of the joint that is prevelant in Rett patients?
Which areas of the brain do you see a reduction of size in with Rett patients?
Frontal, temporal caudate and pigmented areas