Path - Chp 28 - 04

5 Written Questions

1. expansion of GAA repeat
2. fasciculations, progressive muscular atrophy or bulbar palsy
3. lower motor - spinal cord /brainstem
   upper motor - corticospinal tract
4. axatic-dyskinetic (early childhood)
5. ATM (mutated gene) -> ↑x-ray induced abn, replicate damaged DNA

5 Multiple Choice Questions

1. ↓anterior-horn neurons (gliosis), Bunina bodies
   1. ALS (molecular):
   2. ALS (clinical):
   3. ALS (morph):
   4. Bunina bodies:
2. spinal cord - loss of axons, heart - enlarged, pericardial adhesions
   1. ataxia-teleangiectasia (morph):
   2. Friedreich ataxia (molecular):
   3. Friedreich ataxia (morph):
   4. Friedreich ataxia:
3. cerebellum, brainstem, spinal cord, peripheral n (neuronal loss)
   1. Friedreich ataxia:
   2. ataxia-teleangiectasia:
   3. spinal muscular atrophy:
   4. Spinocerebellar ataxia:
4. SOD1 (chr 21) mutation
   1. ALS (molecular):
   2. ALS (morph):
   3. Bunina bodies:
   4. ALS (clinical):
5. x-linked, distal limb amyotrophy, bulbar signs (tongue, aphasia)
   ↑CAG repeats, androgen receptor
   1. Friedreich ataxia (molecular):
   2. spinal muscular atrophy:
   3. Bunina bodies:
   4. bulbospinal atrophy (kennedy syndrome):

4 True/False Questions

1. Bunina bodies: → remnants of autophagic vacuoles

   True        False

2. spinal muscular atrophy: → cerebellum, brainstem, spinal cord, peripheral n (neuronal loss)

   True        False

3. Friedreich ataxia: → spinocerebellar degen begins 1st 10 yrs (gait ataxia) -> hand clumsiness, dysartharia, ↓reflex (autosomal recessive)

   True        False

4. ataxia-teleangiectasia (morph): → ATM (mutated gene) -> ↑x-ray induced abn, replicate damaged DNA

   True        False