Basal Ganglia Diseases Flashcards

1
Q

What is the genetic cause of Huntington’s disease?

A

Autosomal dominant

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2
Q

What are the symptoms of Huntington’s disease?

A

Change in personality and behaviour
Motor symptoms - involuntary movements when awake
Dementia - 10-15 years after motor symptoms

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3
Q

What is the Huntingtin gene and what is it located?

A

Chromosome 4

Encodes glutamine

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4
Q

How is the Huntingtin gene affected in Huntington’s disease?

A

> 34 CAG repeats in exon - more cause younger onset

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5
Q

What changes can be seen in the brain of a Huntington’s disease patient?

A

Enlarged lateral ventricles - basal ganglia degeneration
Uneven striatum degeneration - indirect neurons before direct - initially loss of movement inhibition - causes involuntary movements - then no movement

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6
Q

What are the symptoms of Parkinson’s disease?

A

Tremor at rest
Stooped posture
Masked face

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7
Q

What is the cause of Parkinson’s disease?

A

Sometimes genetic - sometimes idiopathic

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8
Q

What is the main change in the brain in Parkinson’s disease?

A

Death of substantia nigra neurons

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9
Q

How can electrical stimulation be used to treat Parkinson’s disease symptoms?

A

Tetanic stimulation - high frequency, low voltage

Inhibits subthalamic nucleus firing

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