Diseases of the Brain Flashcards
Define neurological
Physical signs and symptoms
Define psychiatric
Mental disorders
- research shows that brain is functionally abnormal
Neurological assessment
- State of consciousness
- Gait
- Mental state
- Coordination
- Cognitive function
Psychiatric assessment
- General behaviour
- Mood
- Abnormal beliefs
- Cognitive state
Symptoms of Parkinson’s disease
- Spontaneous movement
- Gait difficulty
- Postural instability
- Rigidity
- Tremor
What is the pathology of Parkinson’s disease?
Degeneration of the pigmented neurones in the substantial nigra of the brain —> decreased DA availability
What is used as a treatment for Parkinson’s disease?
Deep brain stimulation
Deep brain stimulation
- sub thalamic nucleus most effective
Frequencies > 60Hz alleviate symptoms
Frequencies <30Hz exacerbate symptoms
What causes Parkinson’s disease?
Mutations in α-synuclein, Parkin, PINK1, DJ-1, LRRK2, ATP13A2, PLA2G6 but even identical mutations can have different effects
Lack of dopamine
What does a mutation in α-synuclein cause?
Aberrant proteostasis
What do mutation in Parkin, PINK1, DJ-1 affect?
Mitochondrial function
Substantia nigra dopamine neurons - Ca2+ burden
Energy burden for Ca2+ homeostasis is high meaning less energy for other things such as proteostasis –> misfolding proteins
Why do substantia nigra dopamine neurones have an energy burden?
Ca2+ homeostasis
21st century treatments for Parkinson’s disease
PROTECTION - Ca2+ channels blockers
REGENERATION - transplantation, stem cells
STIMULATION - smart stimulators, optogenetics
Symptoms of Huntington’s disease
- Progressive hyperkinesis/dyskinesis
- Dystonia
- Dementia
What is the pathology of Huntington’s disease?
Striato-GPe neurons die first, followed by striato-GPi neurones –> widespread neurodegeneration
Generally put, neuronal loss in the basal ganglia and dilation of the lateral ventricles
Cause of Huntington’s disease
Autosomal dominant hereditary disease
CAG repeats in Huntingtin gene relates to disease expression
How does the number of CAG repeats in Huntingtin relate to disease expression?
- <35 no disease
- 35-39 enhanced risk, onset 40-75 yrs
- 40-50 disease onset 30-40 yrs
- > 50 early onset
What is the Huntingtin gene involved in?
Synaptic vesicle dynamic and neurotransmitter release
Treatments of Huntington’s disease?
- Memantine
- Tetrabenazine
- Deep brain stimulation
- RNAi
- Stem cell transplantation