Presentations
- Autonomic dysfunction
- Behavioural / Personality changes, such as:
- Confusion
- Emotional changes, such as:
- Language difficulty
- Loss of balance
- Memory problems
- Speech abnormalities
- Perception / Vision changes
- Weakness
Conditions
- Alzheimer disease and related dementias
- Atypical Parkinsonian disorders
- Cerebrovascular inflammatory disease
- Delirium
- Dementia with Lewy bodies
- Frontotemporal lobar degeneration syndromes, including:
- Immune-related encephalopathies
- Metabolic disease
- Normal pressure hydrocephalus
- Parkinson disease
- Poisoning / Toxins
- Psychiatric diseases, including:
- Systemic / Cerebrovascular inflammatory disease
- Thyroid dysfunction
- Toxins, including ethyl alcohol or ethanol (EtOH)
- Transient epileptic amnesia
- Transient global amnesia
- Vascular dementia
- Vitamin or mineral deficiency
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Presentations
- Catatonia
- Hyperkinetic movement disorder(s)
- Myoclonus
- Neuroimaging abnormalities
- Rapidly progressive cognitive decline
Conditions
- Genetic / Inherited neurodegenerative disease
- Inborn errors of metabolism
- Leukodystrophies
- Mitochondrial disease
- Prion disease:
- Creutzfeldt–Jakob disease
- familial prion disorders
- Repeat expansion disorders
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
- Acute, chronic, common, and rare diseases that result in disorders of behavioural change, language, memory, or movement
- Neuroanatomy, neuropharmacology, and neurophysiology of normal memory and language function
- Pathological mechanisms that result in disturbed memory or behavioural function
Cerebrospinal fluid (CSF) procedures and investigations
- Lumbar puncture (LP) and interpretation of investigation results, such as:
- basic CSF analysis:
- cell count
- cytology
- glucose level
- immunological tests
- microbiological tests
- protein level
- xanthochromia
- opening pressure
- special tests:
- 14-3-3 protein
- amyloid and tau levels
- neurofilament light chain
- oligoclonal bands
Clinical neurophysiology investigations
- EEG:
- sleep-deprived EEG
- standard EEG
- video EEG
- Electromyography (EMG) / Nerve conduction studies (NCS):
- motor and sensory studies
- needle EMG
Neurogenetic investigations
- Genetic testing, including, but not limited to:
- chromosomal testing, such as:
- genomic testing, including whole exome or genome sequencing
- mitochondrial genome sequencing
- targeted panel testing
- Referral to a neurogeneticist
Neuroimaging investigations
- CT, including:
- CT angiography
- perfusion
- venography
- MRI, including:
- functional (fMRI)
- magnetic resonance:
- angiography (MRA)
- spectroscopy (MRS)
- venogram (MRV)
- with contrast
- PET
- Single photon emission computed tomography (SPECT)
- Vascular imaging:
Neuroimmmunology investigations
- Autoantibody measurement:
- limbic encephalitis panel
- paraneoplastic antibodies
- Referral to a neuroimmunologist
Neuropathology investigations
Neuropsychological investigations
- Cognitive screening:
- Addenbrooke’s Cognitive Examination
- Mini-Mental State Examination
- Montreal Cognitive Assessment
- Rowland Universal Dementia Assessment Scale
- Referral to a neuropsychologist
Other investigations
- Ethanol / Heavy metals / Toxins:
- autoimmune antibodies
- infective serology
- Other laboratory tests:
- acanthocytes
- urinary porphyrins
- urine drug screen
- Polysomnography
- Serum investigations:
- electrolytes
- full blood count
- glucose level
- mineral and vitamin levels
- Consider cultural implications and stigma related to diagnosis of neurodegeneration
- Consider implications of genetic / inherited causes of neurodegenerative disease
- Prognosis and implications of neurodegenerative diseases, such as:
- advance care planning
- driving
- increased care needs
- institutional care
- Specific conditions that mimic disturbance of memory, including psychiatric disorders
