Robbins Neurodegenerative Diseases Flashcards

1
Q

What is the clinical pattern seen in Alzheimer Disease (AD)

A

Dementia

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2
Q

What are the inclusions seen in Alzheimer Disease (AD)

A
  • Tau tangles

- AB plaques

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3
Q

What are the genetic causes of Alzheimer Disease (AD)

A

APP

PS1 and PS2

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4
Q

What are the clinical patterns in Frontaltemporal lobar degeneration (FTLD)

A

Behavioral changes, language disturbances

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5
Q

What are the clinical patterns in Parkinson disease (PD)

A

Hypokenetic movement disorders

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6
Q

What is the inclusion in Frontaltemporal lobar degeneration (FTLD

A

Tau
TDP-43
FUS

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7
Q

What are the genetic causes for TDP-43 accumulation in Frontaltemporal lobar degeneration (FTLD)

A
  • TDP-43
  • progranulin
  • C9orf72
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8
Q

What are the occlusion seen in Parkinson Disease (PD)

A

Alpha-synuclein

Tau

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9
Q

What is the genetic cause of tau accumulation in Parkinson Disease (PD)

A

LRRK2

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10
Q

What is the clinical presentation of progressive supranuclear palsy (PSP)

A

Parkinsonism with abnormal eye movement

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11
Q

What are the inclusions in progressive supranuclear palsy (PSP)

A

Tau

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12
Q

What is the clinical presention of Corticalbasal degeneration (CBD)

A

Parkinsonism with asymmetric movement disorder

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13
Q

What are the inclusions in corticobasal degeneration (CBD)

A

Tau

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14
Q

What are the clinical presentations of Multiple system atrophy (MSA)

A

Parkinsonism, cerebellar ataxia, autonomic failure

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15
Q

What are the inclusions in multiple system atrophy

A

Alpha-synculein

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16
Q

What are the clinical presentations of Huntington disease (HD)

A

Hyperkinetic movement disorder

17
Q

What are the inclusions in Huntington disease

A

Huntingtin aka poly glut

18
Q

What is the genetic cause of Huntington in Huntington disease (HD)

A

Htt

19
Q

What are the clinical presentations of spinocerebellar ataxias

A

Cerebellar ataxia

20
Q

What are the inclusions in spinocerebellar ataxias

A

Various proteins containing Poly-glut

21
Q

What are the genetic causes of inclusions in cerebellar ataxias

A

Multiple loci

22
Q

What are the clinical presentations of amyotrophic lateral sclerosis

A

Weakness with upper and lower motor neuron signs

23
Q

What are the inclusions in amyotrophic lateral sclerosis (ALS)

A

SOD1
TDP-43
FUS

24
Q

What are the clinical presentations of spinal bulbar muscular atrophy (SBMA)

A

Lower motor neuron weakness, diminished androgen

25
Q

What are the inclusions in spinal bulbar muscular atrophy (SBMA)

A

androgen receptor containing Poly glut