Basal ganglia pathologies

Pathways - direct vs indirect

Basal ganglia function

• Modulates __ movement

• Includes: (x4)

Disorders involving the basal ganglia:

Parkinson’s disease

• Chronic, progressive, degenerative brain disorder in ___, due to death of cells that produce __

PD - leads to an overall decrease in ___ and increase in __ leading to rigidity & tremors

decrease in dopamine

increase in ACh

Parkinson’s disease

• 4 cardinal signs

TRAP

Dopamine affect on pathways

Drives the direct pathway - this pathway drive movement - drives movement

Stops the indirect pathways - this pathway inhibits movement - overrides to allow movement

Overall = more movement!!

In order to have a diagnosis of parkinson’s you must have?

Bradykinesia/akinesia

open & close hand - gets smaller as they go

Parkinson’s - risk factors

Parkinson’s - pathogenesis

• Pathologic hallmark?

Parkinson’s - pathogenesis

• Genes & environmental triggers?

PD Clinical Manifestations: Motor

PD Clinical Manifestations: gait impairments

PD

• Poor __ integration

• Impacts?

• Part of the brain?

PD: Clinical Manifestations: Non Motor

Presence of Parkinson’s disease pathology in non-motor regions, including:

1. peripheral ANS

2. dorsal motor nucleus of Vagus nerve

3. olfactory system

BEFORE the development of motor disease

PD Diagnosis

1. Patient report of s&s: need?

2. MRI and CI: show?

3. Positive response to?

4. DaTSCAN: shows __ depletion

5. Spinal Tap: __ seed amplification assay

6. Skin biospy

PD Treatment

• Pharm:

  • Dopamine replacement:

  • Dopamine agonist or antagonist?

  • What reduces off time?

  • __ inhibitors

  • __: dyskinesia management

• Surgical:

  • __

  • __

• Physical:

PD:

Slower progression?

Rapid progression?

Huntington’s affects what part?

BG - Striatum

Huntington’s

• What kind of gene?

• Appears at what age?

Huntington’s

• characterized by?

Huntington’s - what gene repeats?

CAG

Huntington’s disease M’s

Middle age

• 1st sx: mood & memory (subtle, before movement symptoms)

• Movement

Early and middle stages of Huntington’s

• Neurons projecting from the ___ to the ___ are depleted

• The result is an excess of ____ (nt) and excessive excitation of the ___ pathway = abnormal involuntary movements - called?

Late Huntington’s

• Loss of the direct inhibitory substance that causes more inhibition of the thalamocortical output, results in what symptoms?

Huntington’s NT

Huntington’s - what is enlarged?

Huntington’s - Caudate atrophy correlates with ?

Huntington’s - Putamen atrophy correlates with?

Huntington’s - atrophy of __ appears to occur at same rate as striatum

Huntington’s - cognitive features

Huntington’s - psychiatric features

Huntington’s - motor features

Huntington’s - diagnosis

Huntington’s Treatment

• Medication is approved for treatment of?

• __: inhibits primarily __ and to a lesser degree __ and __

• Side effects include?

• Black box warning for?

Huntington’s- prognosis

• Strong inverse correlation between?

• Increasing disability from involuntary movements and mental changes often results in death from?

Huntington’s Treatment

• Current tx’s are __ based

• __ gene therapy - promising

Dystonia

• Type of muscle contractions?

• Type of movement?

• Initiated or worsened by?

• 
  

Dystonia affects most or all of the body.

Dystonia localized to a specific part of the body

Dystonia involves two or more unrelated body parts.

Segmental dystonia affects two or more adjacent parts of the body.

Dystonia involves the arm and leg on the same side of the body.

Dystonia pathophysiology

• Loss of?

• Overactivity of?

• Defective?

Dystonia pathophysiology

• Abnormal sensorimotor integration

• Defective?

• __ tricks in altering dystonic movements

Dystonia

• Disorganized ___ organizing

• __ fields

Dystonia Diagnosis

• __ testing

• Clinical presentation criteria

  • DYT1:

  • +:

• MRI:

• Functional MRI:

• PET:

Dystonia treatment

• Deep brain stimulation of ___

• Botox

• Medication: __

Dystonia prognosis

• Age

  • Progressively worse over the years?

  • Remains static for many years?

  • Progression to segmental dystonia?

Dystonia prognosis

• Spontaneous remission occurs in some cases within?

• Majority show steady progression of dystonia, with maximal disability occurring after?

What is a sensory trick with dystonia?

changing the sensory input changes or stops the motor output/involuntary action