Ataxia Flashcards
What is ataxia?
Loss of order in executing movement
What does the term ataxia refer to? (2)
- Umbrella term for a group of neurological disorders affecting balance, co-ordination and speech
- A sign, not a disease and results from cerebellar dysfunction
Why does ataxia occur? (2)
- Can result from structural damage to the cerebellum
- Can be genetic or acquired
- Can also occur due to damage to spinal cord or other nerves
What is the prevalence of ataxia? (3)
- 10,000 people in the UK
- 500 children with progressive ataxia
- Acquired diseases account for the majority (80%) and genetic ataxias (20%)
When is ataxia most commonly diagnosed?
- At any age but certain types are more common at certain ages
What is the aetiology of ataxia?
- Can be genetic or acquired
2. Damage to the cerebellum but also damage to spinal cord or other nerves
Give 4 ways that ataxia can be inherited
- Autosomal recessive
- Autosomal dominant
- Mitochondrial
- X-linked
Give 5 ways that ataxia can be acquired
- Toxic causes
- Immune mediated
- Neurodegenerative
- Idiopathic sporadic
- Vascular/structural
Give 3 toxic causes of ataxia
Alcohol
Phenytoin
Lithium
Give 5 types of immune-mediated ataxia
- Paraneoplastic cerebellar degeneration
- Post-infectious cerebellitis
- Gluten ataxia (GA)
- Ataxia with anti-glutamic acid decarboxylase (GAD) antibodies
- Primary Autoimmune Cerebellar Ataxia (PACA)
Give 11 causes of acquired ataxia
- Severe head injury
- Bacterial brain infection eg. meningitis, encephalitis
- Viral infection eg. chickenpox, measles
- Stroke, haemorrhage or TIA
- Cerebral palsy
- Multiple sclerosis
- Sustained alcohol misuse
- Underactive thyroid gland
- Vitamin B12/E deficiency
- Toxic chemicals eg. mercury, solvents
- Gluten intolerance
Give 2 examples of autosomal recessive inheritance of ataxia
- Freidreich’s ataxia
2. Ataxia-telangiectasia
Give 2 examples of autosomal dominant ataxia
- Episodic ataxia
2. Some cases of spinocerebellar ataxia
Describe idiopathic sporadic ataxia (2)
- Late onset of undetermined cause (50%)
2. Proportion of patients likely to be immune-mediated
Describe gluten ataxia (2)
- Sensitivity to gluten
2. one of the most common forms of sporadic idiopathic ataxia
Describe episodic ataxia (3)
- Characterised by attacks of ataxic symptoms and no/mild symptoms for rest of the time
- Relatively rare group of conditions
- Inherited in autosomal dominant manner (50% chance of passing to children)
Describe spinocerebellar ataxia (3)
- Group of hereditary ataxia
- Don’t often begin until adulthood
- Caused by mutations in different genes (100 identified) Eg. SCA 6
Describe Freidreich’s ataxia (2)
- Most common form of ataxia affecting 1/50,000
2. Inherited mutation (autosomal recessive) in the frataxin gene leading to reduced frataxin
What is the role of frataxin?
A protein essential for life and cell survival
Give 2 types of neurodegenerative ataxia
- MSA-C (multi-system atrophy - cerebellar variant)
2. PSP (progressive supernuclear palsy)
Describe MSA-C (5)
- Autonomic symptoms
- Bulbar symptoms
- Ataxia
- Respiratory hypoventilation
- Characteristic MRI finding
Describe PSP (3)
- Falls/loss of truncal balance
- Restricted eye movements
- Bulbar symptoms
Describe ataxia-telangiectasia (3)
- Rare type of hereditary ataxia
- Symptoms usually begin in early childhood
- Condition rapidly deteriorates, usually live until 19-25 years (some may live into 50s)
Give 9 symptoms of cerebellar dysfunction
- Slurring of speech, dysarthria
- Swallowing difficulties
- Oscillopsia
- Clumsiness (arms and legs)
- Tremor
- Loss of precision in fine motor skills
- Unsteadiness when walking/worse in dark
- Stumbles and falls
- Cognitive impairments
- Nystagmus
