Path - Chp 28 - 04
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14 terms
Terms | Definitions |
|---|---|
Spinocerebellar ataxia: | cerebellum, brainstem, spinal cord, peripheral n (neuronal loss) |
Friedreich ataxia: | spinocerebellar degen begins 1st 10 yrs (gait ataxia) -> hand clumsiness, dysartharia, ↓reflex (autosomal recessive) |
Friedreich ataxia (molecular): | expansion of GAA repeat |
Friedreich ataxia (morph): | spinal cord - loss of axons, heart - enlarged, pericardial adhesions |
ataxia-teleangiectasia: | axatic-dyskinetic (early childhood) |
ataxia-teleangiectasia (molecular): | ATM (mutated gene) -> ↑x-ray induced abn, replicate damaged DNA |
ataxia-teleangiectasia (morph): | cerebellum - loss of Purkinje/granule cells, lesions in conjunctiva, skin (face,neck,arms) |
Amyotrophic Lateral Sclerosis (ALS): | lower motor - spinal cord /brainstemupper motor - corticospinal tract |
ALS (molecular): | SOD1 (chr 21) mutation |
ALS (morph): | ↓anterior-horn neurons (gliosis), Bunina bodies |
Bunina bodies: | remnants of autophagic vacuoles |
ALS (clinical): | fasciculations, progressive muscular atrophy or bulbar palsy |
bulbospinal atrophy (kennedy syndrome): | x-linked, distal limb amyotrophy, bulbar signs (tongue, aphasia)↑CAG repeats, androgen receptor |
spinal muscular atrophy: | LMN in children |
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