Things to remember

Question 1

Genes involved in Parkinson’s

Answer 1

1. Increased function in alpha-synuclein (Familial PD - autosomal dominant)
2. Decreased function in parkin gene (recessive - early onset)
3. Gain of function in LRRK-2 - associated with PD susceptibility

Question 2

Communicating hydrocephalus

Answer 2

Problem with arachnoid granulations (includes normal pressure hydrocephalus) - means consistent swelling all over brain

Question 3

Non-communicating/obstructive hydrocephalus

Answer 3

Obstruction is at one of the ventricles

Question 4

General side effects of neuroleptics (antipsychotics)

Answer 4

Acute effects: Parkinsonism-like features
Others: tardive dyskinesia (choreo-athetoid movements), hyperprolactinaemia
Severe: Neuroleptic Malignant Syndrome

Question 5

Neuroleptic malignant syndrome

Answer 5

fever, muscle rigidity, altered sensoriom and autonomic instability, increased CrK and leukocytosis
Can be fatal

Question 6

Athetosis

Answer 6

Slow involuntary writhing movements

Face and digits

Question 7

Chorea

Answer 7

Choreia = dance

Quick movements of hands and feet, can look pseudo-purposeful

Question 8

Ballismus

Answer 8

Violent chorea

Caused by damaged subthalamus

Question 9

Dystonia

Answer 9

Syndrome of sustained muscle contractions - grimacing, co-contraction of inappropriate muscles

Can treat with Botox, L-dopa

Question 10

Cause of Huntington’s Chorea

Answer 10

Degeneration of CPu (Death of GABA-Enk neurons)

Reduction indirect pathway

Question 11

Cause of ballism

Answer 11

Damage to ST nucleus
e.g. infarct to PCA.
NB. removing the subthalamus in PD does NOT cause ballismus because in PD the subthalamus is not normal anyway

Question 12

Multiple Systems Atrophy

Answer 12

Cell death in several extrapyramidal systems. Gives Parkinson’s signs among other signs e.g. PSP and intention tremor

Question 13

Alpha synuclein is a component of what?

Answer 13

Dopamine vessels

Question 14

Declarative memory

Answer 14

Conscious memory

Question 15

Parts of the brain involved in LT memory

Answer 15

Hippocampus (makes memories)
Neocortex (stores memories)
Diencephalon (?)
Amygdala (adds emotion to memories)
Basal forebrain (function?)

Question 16

Parts of the brain involved in ST memory

Answer 16

Secondary cortices (processing)
Basal forebrain (cholinergic cells project here)
Prefrotal cortex (working memory pool - retains for a few minutes)

Question 17

Procedural memory

Answer 17

Unconscious recollection e.g. muscle memory
Cerebellum - when learning
BG - when learned

Question 18

Proteins involved in Alzheimer’s Disease

Answer 18

APP (Amyloid Precursor Proteins) - plaques in ECM

Tau - Neurofibrillary tangles in cytoplasm

Question 19

5 signs/sympoms of Alzheimer’s Disease

Answer 19

1. Memory (impaired anterograde, working spared)
2. Concentration, attention, complex tasks
3. Language (semantic, word-finding)
4. Visuospatial, perceptual memory (pentagons)
5. Apraxia

NB. neuropsychiatric disturbances also

Question 20

Proteins involved in Dementia with Lewy Bodies

Answer 20

Alpha-synuclein (forms Lewy bodies)

Question 21

Proteins involved in frontotemporal dementia

Answer 21

Generally they are tauopathies

Question 22

Variants of frontotemporal dementia

Answer 22

Behavioural (loss of inhibition, personality, insight. Memory/language good, no executive function)

Language variant - semantic and progressive non-fluent aphasia (can’t say words but has word knowledge)

Question 23

Diabetes insipidus

Answer 23

Failure of ADH secretion (opposite of SIADH)

Neurogenic - PP fails to secrete
Nephrogenic - post-receptor defect of V2 receptor in kidney; failure to respond to ADH actions. (Can be caused by Li+ toxicity.)

Question 24

Pseudohypoparathyroidism

Answer 24

Failure to resorb Ca from kidneys –> Ca lost in urine

Defect in PTH receptor in kidneys

Question 25

Common hyperchlolesterolaemia

Answer 25

Most frequent cause of high cholesterol levels. Genes and environment.

Question 26

Familial hypercholesterolaemia

Answer 26

``` 1/500 heterozygous Some racial groups more affected (Lebanese, S Africans, French Canadians) Impaired function of LDL receptors Tendon xanthomas Heterozygous 7-14mmol Homozygous 18-30 mmol, very rare Autosomal dominant Significant CHD risk ```

Question 27

Type III hyperlipidaemia

Answer 27

Abnormal ApoE (E2/2) Elevated cholesterol and TAG levels Tuberous xanthoma (on joints) Causes early onset CHD

Question 28

Familial Combined Hyperlipidaemia

Answer 28

Most common genetic disorder of lipoprotein metabolism Associated with insulin resistance Elevated cholesterol and TGAs

Question 29

Chylomicronaemia

Answer 29

Rare cause of elevated TGAs and low HDLs early in life. No excess risk of CHD Autosomal recessive

Question 30

Familial hypertriacylglycerolaemia

Answer 30

Moderately elevated TAGs, if exacerbated leads to chylomicronaemia Severity variable Defect unknown