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NMSP > Degenerative Diseases part 2 > Flashcards

Degenerative Diseases part 2 Flashcards

1
Q

Where is the dysfunction with Spinocerebellar Degenerations?

A

Cerebellum
Spinal cord
Peripheral nerves

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2
Q

Spinocerebellar Ataxias are a group of disorders that involve spinocerebellar degenerations. How are they inherited and what gene mutation is involved?

A

Autosomal Dominant inheritance

– SCA mutations

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3
Q

What are 3 Spinocerebellar Degenerations?

A
  1. Friedreich Ataxia
  2. Ataxia-Telangiectasia
  3. Amyotrophic Lateral Sclerosis
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4
Q

What are 3 Spinocerebellar Degenerations?

A
  1. Friedreich Ataxia
  2. Ataxia-Telangiectasia
  3. Amyotrophic Lateral Sclerosis
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5
Q

What trinucleotide repeat is present with Friedreich Ataxia?

A

GAA

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6
Q

With Friedreich Ataxia, what protein is decreased?

A

Frataxin

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7
Q

What presents in the 1st decade of life with Friedreich Ataxia?

A

Gait ataxia

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8
Q

As Friedreich Ataxia progresses, what symptoms are unique?

A

Cardiomyopathy

– increased arrhythmias and congestive heart failure

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9
Q

As Friedreich Ataxia progresses, what symptoms are unique?

A

Cardiomyopathies

– increased arrhythmias and congestive heart failure

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10
Q

This spinocerebellar degeneration involves decreased DTRs but still (+) extensor plantar reflex

A

Friedreich Ataxia

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11
Q

Patients with Friedreich Ataxia usually also have what condition?

A

Diabetes Mellitus

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12
Q

When does Ataxia-Telangiectasia begin and what is the outlook for it?

A

Begins in childhood –> death by 2nd decade

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13
Q

Ataxia-Telangiectasia involves telangiectasias where?

A

Conjunctiva, skin, CNS

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14
Q

What gene is mutated with Ataxia-Telangiectasia and on what chromosome?

A

ATM gene on chromosome 11

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15
Q

What is the ATM gene on chromosome 11 responsible for?

A

Response to double stranded DNA breaks

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16
Q

Those with Ataxia-Telangiectasia fail to remove cells with?

A

Fail to remove cells with DNA damage

– mutated ATM gene that response to double stranded DNA breaks

17
Q

What will patients with Ataxia-Telangiectasia be very sensitive to?

A

X-rays

– cannot fix double stranded DNA breaks

18
Q

What is lost with Amyotrophic Lateral Sclerosis (ALS)?

A

Loss of upper and lower motor neurons!

19
Q

Loss of upper and lower motor neurons

A

Amyotrophic Lateral Sclerosis (ALS)

20
Q

What genes are associated with ALS development?

A

SOD1

TDP-43

21
Q

What genes are associated with ALS development?

A

SOD1

TDP-43

22
Q

What is decreased with ALS?

A

Decreased # of Anterior horn neurons

23
Q

This spinocerebellar degeneration involves thin anterior roots of the spinal cord and an atrophic precentral gyrus

A

ALS

24
Q

What cytoplasmic inclusions are present with ALS?

A

Bunina Bodies

25
Q

Due to LMN loss with ALS, what will occur?

A

Neurogenic atrophy of skeletal muscles

26
Q

Due to UMN loss with ALS, what will occur?

A

Degeneration of corticospinal tracts

27
Q

Decreased # of Anterior horn neurons and intracytoplasmic Bunina Bodies suggests?

A

Amyotrophic Lateral Sclerosis (ALS)

28
Q

What are the early symptoms of ALS?

A

Asymmetric hand weakness

–> dropping things/cramping

29
Q

As ALS progresses, what other symptoms will be seen?

A

Fasciculations and recurrent pneumonia

Deglutination and phonation difficulties (speaking and swallowing)

30
Q

First sign of ALS?

A

Dropping things/cramping in the hands asymmetrically

31
Q

What is 1 Neuronal storage disease?

A

Tay-sachs

32
Q

What gene is mutated with Tay Sachs?

A

HEXA

33
Q

What enzyme is deficient with Tay Sachs?

A

Hexosaminidase A

34
Q

What substrate accumulates in the neuron with Tay Sachs?

A

GM2 Gangliosides

35
Q

What is a physical exam finding with Tay Sachs?

A

Cherry red spots on the maculae

NMSP (28 decks)

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