Path - Chp 28 - 04

About this set

Created by:

swamzi  on February 24, 2012

Subjects:

pathology

Description:

ALS

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Path - Chp 28 - 04

Spinocerebellar ataxia:
cerebellum, brainstem, spinal cord, peripheral n (neuronal loss)
1/14

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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 /brainstem
upper 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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