Genetics of Neurological Disorders

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Genetics of Neurological Disorders

• ???
• zhangxianning_at_zju.edu.cn
• Tel[phone] 88208367
• Office A705, Research Building
• 2013/11

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Learning Objectives

• 1.To become familiar with the clinical phenotypes
  of the major triplet repeat disorders such as
  fragile X syndrome, Huntington disease, myotonic
  dystrophy and Friedreich ataxia.
• 2. To understand the unique and unusual molecular
  mechanisms and modes of inheritance underlying
  these disorders.
• 3. To appreciate how this knowledge is translated
  to clinical molecular genetic testing of these
  disorders for purposes of diagnosis, predictive
  testing, and prenatal testing.
• 4. To become aware of some of the difficult
  ethical issues associated with molecular testing
  for these disorders.

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Required Reading

• Thompson Thompson Genetics in Medicine, 7th Ed
  (???,2009)
• pp. 302-305, Chapter 12, The Molecular and
  Biochemical Basis of Genetic Disease - Diseases
  due to the Expansion of Unstable Repeat
  Sequences Biochemical and Cellular Mechanisms
• Case Study, 15. Fragile X Syndrome
• 22. Huntington Disease

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ALS is a lethal, paralyzing disorder of motor
neurons in the brain, brainstem and spinal cord.
Its onset, typically in the 6th decade of life,
is age-dependent mean onset is 55 yr, and mean
survival is 3