Neurogenetics

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Author:
jollyvulcan
ID:
137150
Filename:
Neurogenetics
Updated:
2012-07-28 07:57:33
Tags:
Neurology Genetics
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Description:
Common neurogenic disorders and genes related to neurologic function
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  1. Presinillin 1
    Chromosome 14
  2. Presenillin 2
    Chromosome 1
  3. APoE
    Chromosome 19
  4. Synuclein
    Chromosome 4
  5. Huntington's Disease
    Trinucleotide Repeat Disorder caused by CAG Expansion > 36 in the HTT gene on chromosome 4p16.3
  6. Freidreich's Ataxia
    Trinucleotide Repeat Disorder caused by a GAA expantion in the FTX gene on Chromosome 9
  7. Myotonic Dystrophy, type 1
    Trinucleotide Repeat Disorder caused by a CTG expansion in the DMPK gene on Chromosome 19
    • Williams Syndrome
    • 7q11.23 (FISH)
    • Elfin-Facies
    • Supravalvular Aortic Stenosis
    • Hyperacusis
    • Cocktail Personality
    • Prader-Willi Syndrome
    • 15q11-13 (FISH)
    • Long Face, Thin Lip, Prominent Nose, Almondine Eyes
    • Hypotoina
    • Obesity
    • Short Stature
    • Angelman Syndrome
    • 15q11-13 (FISH)
    • Wide mouth, prominent jaw
    • Seizures
    • Inappropriate Laughter
    • Ataxic Gait
  8. DiGeorge Syndrome
    • 20q11.2 (FISH)
    • Palatal Anaomalies
    • Conotrunkal Heart Defects
    • Learning Disabilities
    • Thymic Hypoplasia
    • Hypoparathyroidism
    • Immune Dysfunction
    • Smith-Magenis Syndrome
    • 17p11.2 (FISH)
    • Facies - broad / square face, prominent jaw, flat bridge / midface, downturning mouth with full upper lip, coarse
    • Developmental Delay / Autism
    • Self-hugging
  9. Miller-Dieker Syndrome
    • 17p13.3 (FISH)
    • Type I Lissencephaly
    • Seizures
    • MR
    • Wolf-Hirschhorn Syndrome
    • 4p16.3 (FISH)
    • "Greek Helmet" face
    • Microcephaly
    • Developmental Delay / MR
    • Seizures
    • Fragile X Syndrome
    • Most common genetic cause of MR
    • Mild to Severe MR often with Autistic Phenotype
    • Macrocephaly
    • Long Faces with prominent jaw
    • Large ears and testes
    • Rett Syndrome
    • MECP2 or CDLK5
    • Normal development until 6-18 months then regression
    • Acquired microcephaly
    • Loss of purposeful hand movement
    • Seizures
    • Bruxism
    • Atypical Breathing

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