Degenerative diseases Flashcards
what does degenerative disease in the motor neurons cause
motor neurone disease (MND)
in upper and lower motor neurons (UMN +/- LMN)
what does degenerative disease in the cerebral cortex cause
alzheimers
what does degenerative disease in the basal ganglia and brain stem cause (2)
parkinsons
huntingtons
is dementia a normal part of the ageing process
no just happens in a lot of older people
what % of >80yo have dementia
20%
do you need to inform the DVLA if you have dementia
yes
what is the most common cause of dementia
alzheimers
what causes alzheimers
multifactorial - genetic (family history) and environmental
if someone presents with alzheimers <65yo what do you need to ask
how do they often present
family history of early onset alzhiemers
visuospatial disturbance - present to ophthalmology
aphasia
what genetic disorder predisposes someone to alzheimers
down syndrome
what happens to the brain pathologically in alzhemiers (3)
cortical atrophy (frontal, parietal and temporal lobe) ventricular dilation - to compensate for cortical atrophy amyloid angiopathy (plaques)
what condition can ventricular dilation in alzheimers predispose/cause
normal pressure hydrocephalus
alzhiemers brain with amyloid angiopathy, what does it stain with
congo red
which area of the brain is affected first in alzheimers
nucleus basalis of meynert
what type of tangles are classical in alzheimers
neurofibrillary tangles
early presentation of alzheimers (3)
changes in mood/personality
forgetfulness
anosognosia - lack of insight
later presentation of alzheimers
sundowning - confusion worse at night memory loss - book case analogy psychosis, hallucinations agnosia -cant recognize self in mirror decreased mobility
first line investigation for alzheimers
other examples
MMSE - probs diagnostic
MoCA
ACE-R (adenbrookes)
what invetsigaion would you want to do to rule out other causes of memory loss if you suspect its not alzheimers (not routinely done)
CT/MRI - should see atrophy
treatment of alzheimers
rivastigmine (cholinesterase inhibitor)
how does rivastigmine work in alzheimers
slows down disease process (don’t cure it)
inhibits cholinesterase = boosts ACh which is being broken down faster than normal
what can you use to treat alzheimers late stage with behavioural disturbance
memantine
blocks glutamate (glutamate overactivation in alzheimers causes neuronal damage)
after alzheimers, what is the second most common type of dementia
vascular dementia
risk factors for vascular dementia (3)
hypertension
previous stroke
CVD - smoker, high BMI
how is the deterioration in alzheimers
smooth deterioration
how is the deterioration in vascular dementia
what is the onset like
step like deterioration
sudden onset
how does CVD cause vascular dementia
lacunar infarcts = hypoxia to small areas of brain = ischaemia = dementia
apart from memory loss, what is the most common presentation of vascular dementia
personality change - depression
investigations for vascular dementia
MMSE (MoCA, ACE-R)
SPECT scan - specific for vascular dementia, know this
BP and assess CVD risk factors
treatment of vascular dementia
treat CVD - antihypertensives etc
NOT ???? unlike alzheimers
what other condition is lewy body dementia associated with
parkinsons
if someone gets memory problems then movement disorder (= parkinsonism) what is it called
lewy body dementia
if someone gets movement disorder then memory problems (= parkinsonism) what is it called
parkinsons dementia
what part of the brian is degenerated in lewy body dementia and parkinsons
what colour change occurs
subtantia nigra
black to pale
histology appearance of lewy body dementia
lewy bodies
what type of hallucinations are common in lewy body dementia
visual hallucinations - children (not threatening)
does the movement disorder (parkinsons) occur before or after the memory loss associated with lewy body dementia
can be either
usually before but can be after
what cognitive problem do people with lewy body dementia have
fluctuating level of attention
how can you differentiate between parkinsons and lewy body dementia
DaT scan
treatment of lewy body dementia
levodopa (same as parkinsons)
NOT antipyschotics
which type of dementia usually presents in people <65yo
frontotemporal dementia
another name for frontotemporal dementia
picks disease
what other degenerative disease is frontotemporal dementia associated with
motor neurone disease (MND)
which lobe is more significantly affected (by atrophy) in frontotemporal dementia
more frontal lobe
also temporal lobe
histology of frontotemporal lobe dementia
do these always occur, when they do occur, what is it called
picks cells
don’t always occur
when they do occur = picks disease
early presentation of frontotemporal lobe dementia (3)
frontal lobe problems
personality change eg loss of empathy
weird behavior
compulsive behavior - cant just have 1 biscuit
later presentation of frontotemporal lobe dementia (3)
brocas aphasia (in frontal lobe)
memory loss
reduced attention
investigations for frontotemporal lobe dementia
what do you see
what don’t you bother doing bc isn’t diganostic
MRI/SPECT - see atrophy of frontal/temporal lobes
don’t do MMSE - not a classic feature, not diagnostic
treatment for fronttemporal dementia
nothing really, juts symptomatic
antipyschotics for behavior
most common cause of pseudo dementia (dementia but no changes to brain)
depression
older person acute change in cognition temporary amnesia (memory loss) lasts 4-6 hours triggered by emotion/temp
transient global amnesia
transient lobal amnesia but recurrent
temporal lobe seizures
transient epileptic amnesia
transient epileptic amnesia treatment
sodium valproate
common cause of functional cognitive disorder (memory loss eg forgetting keys)
mood disorder
pathophysiology of mad cow disease (Creutzfeldt-Jakob disease (CJD))
abnormal proteins (prions) = neurodegeneration
presentation of mad cow disease (Creutzfeldt-Jakob disease (CJD))
memory loss (from neurodegeneration)
are males or females more likely to get parkinsons
males
pathophysiology of parkinsons
degermation of substantia nigra
where in the brain is substantia nigra
basal ganglia
what colour is substantia nigra normally
what colour is substantia nigra in parkinsons
black (nigra = black)
pale
whattype of cells are lost from substantia nigra in parkinsons
dopaminergic cell loss
which pathway (direct or indirect) is suppressed in Parkinson’s
what does this cause
direct pathway is suppressed
patient wants to be able to do something, but physically cant (direct pathway isn’t functioning)
is parkinsons usually symmetrical or worse on one side
worse on one side
what type of tremor in parkinsons (2)
when does it occur
resting tremor - eg when walking, vanished when hands move
rollingpin tremor - thumbs moves like a rolling pin
why do parkinsons patients have a ‘masked’ facial expression
bradykinesia - decreased muscle power = facial muscles weak
what is the tone like in parkinsons
give an example
rigidity - hypertonia
eg cogwheel rigidity in hands
what is the handwriting like in parkinsons
small - hypographia
what is gait like in Parkinson’s
shuffling gait
what sensory function is often lost in parkinosns
smell - anosmia
what sleep problems occur in parkinsons
REM sleep behaviors - talking in sleep, sitting up in bed etc
what psychiatric condition often occurs in parkinsons
depression
what type of dementia is associated with parkisons
lewy body dementia
diagnosis of parkinsons
based on history and examination
investigations for parkinsons if not convinced on diagnosis (2)
levodopa responsiveness challenge (do symptoms improve with levodopa)
brain imaging - to exclude other causes
first line treatment for parkinsons
levodopa
side effect of levodopa
how do you treat
nausea vomiting
give domperidone (is a dopamine antagonist but doesn’t cross BBB, others do = would make parkinsons worse)
how does levodopa work
dopamine agonist - acts as a dopamine building block = increases dopamine conc
what alterative treatment can be given in parkinsons before levodopa if disease is early stage
dopamine agonist eg ropinirole
what is it a sign of if levodopa doesn’t work in parkinsons
late stage parkinsons
Or
parkinsonism caused by vascular problem
why is dietician crucial in treating parkinsons patient
likely to be malnourished increased movement (form tremor) = increased expenditure also memory loss = likely to forget meals
what GI problem is common in parkinsons
constipation
what genetic condition presents similar to parkinsons
fragile X tremor ataxia syndrome (FXTAS)
what is the inheritance pattern of huntingtons
autosomal dominant
chance of your child getting huntingtons if you have it
50% bc autosomal dominant inheritance
what genetic sequence causes huntingtons
run of CAG (glutamine) >32 in a row
which part of the basal ganglia is affected in huntingtons
caudate nucleus
which pathway (indirect or direct) is affected by neurodegeneration in huntingtons
indirect pathway
what age of presentation is common in huntingtons
35-50
classic presentation of huntingtons (3)
emotional disturbance - depression, anxiety etc
cognitive problems
motor disturbance = chorea - writhing/dance like movements
investigations for huntingtons
genetic testing
MRI
treatment of huntingtons
nothing
symptomatic;
mood stabilisers
radiotherapy for chorea
where is the neurodegeneration in motor neurone disease (MND)
in upper and lower motor neurons (UMN and LMN)
is there sensory symptoms in MND
no
just motor
how do you differentiate between MS and MND
MS has motor and sensory problems
MND has motor symptoms only
LMN symptoms in MND
muscle wasting/weakness
absent reflexes
is there eye involvement in MND
no
UMN symptoms in MND
positive babinskis sign (hyperreflexia)
increased tone
what type of dementia is associated with MND
which type of MND specifically
frontotemporal lobe dementia
amyotrophic lateral sclerosis
which type of MND presents with UMn features only
good or bad prognosis
primary lateral sclerosis
good prognosis (>5y)
which type of MND presents with UMN and LMN features
good or bad prognosis
amyotrophic lateral sclerosis
bad prognosis (3-5y survival)
is amyotrophic lateral sclerosis or primary lateral sclerosis more common type of MND
amyotrophic lateral sclerosis is more common (85%)
is there curative treatment for MND
no just symptomatic
tremor treatment (2)
beta blocker
primidone
resting tremor
parkinsons/parkinsonism
intention tremor (occurs during movement)
cerebellar disease (MS or stroke), not parkinsons
treatment of tics
clonidine
what is a brief irregular purposeless movement that flits and flows from one body part to another
how might they disguise it
what does it occur in
chorea
disguise it by flicking hair+, sorting glasses etc
huntingtons
parkinsons
wilsons
loads of things!
eosinophilic inclusions
= lewy bodies
so lewy body dementia or parkinsons
