Parkinson's disease is a movement disorder characterised by: tremor at rest, rigidity, bradykinesia
Aetiology
Risk factors
Advancing age is the greatest risk factor
Positive family history
Early onset (below 40 years) increases probability of genetic cause
Male gender
Environmental factors e.g. pesticide exposure, prior head injury, rural living, beta blocker use
Genetic link - monogenetic forms have been identified e.g. LRRK2 and PARKIN
Pathophysiology
Pathological hallmarks
Sections through the brainstem reveals loss of the normally dark black pigment in the substantia nigra and locus coeruleus
Pigment loss correlates with dopaminergic cell loss
A neurohistological hallmark of PD are Lewy bodies
Subtypes of PD
Motor features in PD are heterogenous, but there are broadly 2 subtypes:
Tremor dominant PD (with relative absence of other motor symptoms)
Non-tremor dominant PD (such as akinestic-rigid syndrome and postural instability gait disorder)
Mixed/indeterminate phenotype
Course and prognosis differ with the tremor-dominant subtype being associated with slower rate of progression and less functional disability
Clinical presentation
Motor symptoms
Bradykinesia - slowness of movement with progressive loss of amplitude or speed during attempted rapid alternating movement of body segments
Resting tremor - rhythmic oscillatory involuntary movement of affected body part at rest
Often described as pill-rolling because the patient appears to be rolling something between thumb and forefinger
Rigidity - stiffness on passive limb movement is described as ‘lead pipe’, as it is present throughout the range of movement and, unlike spasticity, is not dependent on speed of movement
When stiffness occurs with tremor (not always visible), a ratchet-like jerkiness is felt, described as ‘cogwheel’ rigidity
Postural and gait impairment
Stooped posture owing to impaired postural reflexes (major contributor to falls risk)
Gait gradually becomes shuffling
Non-motor symptoms
Sleep disorders
Hallucinations
GI dysfunction
Depression
Cognitive impairment/dementia
Anosmia
Issues with speech and swallowing
Speech becomes quiet, indistinct and flat
Drooling
Swallowing difficulty is a late feature that may eventually lead to aspiration pneumonia as a terminal event
Investigations
Supportive features of a diagosis of Parkinson's
Essential (Parkinsonism) - bradykinesia and one or more of the following:
Resting tremor
Rigidity (cogwheel or lead-pipe)
Postural instability
Additional motor features
Stooped posture
Dystonic postures
Hypomimia ('masked' face)
Shuffling
Short-stepped gait +/- festination
Additional non-motor features
Late onset hyposmia
Depression and anxiety
Constipation
Bladder problems
Pain
Subtle mental or cognitive impairment
Confirmation of diagnosis
Parkinsonism
No alternative explanation for presentation
Rule out treatable conditions of asthenia (hypothyroidism, anaemia)
Dopamine responsiveness
Diagnostic tests not usually needed, structural brain involvement and SPECT can be helpful
Management
Pharmacological management of motor symptoms
To date there are no available neuroprotective or disease modifying drugs for PD
Symptomatic treatments enhance intracerebral dopamine concentrations or stimulate dopamine receptors
These symptomatic drugs include levodopa, dopamine agonists, monoamine oxydase type B inhibitors, and less commonly amantadine
Tremor is inconsistently responsive to dopamine replacement therapy, especially in lower doses; anticholinergic agents, trihexyphenidyl, or clozapine, can be effective for tremor
Phamacological manangement of non-motor symptoms
Treat non-motor symptoms accordingly e.g. dopamine agonist, SSRIs for depression, osmotic laxitives for constipation etc.