Cerebellar disease

Question 1

What specialised cells are the only output element of the cerebellum

Answer 1

Purkinje cells

Question 2

How many synapses does each purkinje cell accomodate

Answer 2

160000 synapses

Question 3

History of cerebellar ataxia

Answer 3

age of onset
course / rate of progression
additional symptoms
pattern of involvement

family history
drug / alcohol hx
social history

Question 4

Symptoms of cerebellar dysfunction

Answer 4

slurring of speech (staccato speech)
swallowing difficulties (choking bouts)
oscillopsia (not very common)
clumsiness (arms and legs)
(action) tremor
loss of precision of fine movement / motor skills
unsteadiness when walking / worse in the dark
stumbles and falls
(cognitive problems)

Question 5

What would be examined in cerebellar dysfunction

Answer 5

Gait
Limb ataxia
Eye movements
Speech
Sensory ataxia

Question 6

Signs of cerebellar dysfunction

Answer 6

nystagmus
dysarthria
action tremor
dysdiadochokinaesia
truncal ataxia
limb ataxia
gait ataxia

Question 7

What is nystagmus

Answer 7

abnormality of eye movement

Question 8

dysdiadochokinaesia

Answer 8

impaired ability to perform rapid, alternating movements

Question 9

Define ataxia

Is it a disease?

Answer 9

loss of order in executing movement
is a SIGN, NOT DISEASE
results from cerebellar dysfunction

Question 10

Clinical severity of ataxia: Describe mild

Answer 10

Mobilising independently or with one walking aid

Question 11

Clinical severity of ataxia: Describe moderate

Answer 11

mobilising with 2 walking aids

or walking frame

Question 12

Clinical severity of ataxia: Describe severe

Answer 12

predominantly wheelchair dependent

Question 13

What can be used to quantify severity of ataxia

Answer 13

Scale for the Assessment and Rating of Ataxia (SARA)

Question 14

Types of cerebellar ataxia

Answer 14

Inherited

Acquired

Question 15

Types of inherited cerebellar ataxia

Answer 15

Autosomal recessive
Autosomal dominant
Mitochondrial
X-linked

Question 16

Example of autosomal recessive ataxia

Answer 16

Friedreich’s ataxia (FA)

Question 17

Example of autosomal dominant ataxia

Answer 17

Spinocerebellar ataxia 6 (SCA 6)

Episodic ataxia

Question 18

Types of acquired cerebellar ataxia

Answer 18

Toxic
Immune mediated
Neurodegenerative
Idiopathic sporadic
Vascular/structural

Question 19

Causes of toxic acquired ataxia

Answer 19

Alcohol
Phenytoin
Lithium

Question 20

Examples of immune-mediated acquired ataxia

Answer 20

Paraneoplastic cerebellar degeneration
Post-infectious cerebellitis
Gluten ataxia (GA)
Ataxia with anti glutamic acid decarboxylase
(GAD) antibodies
Primary Autoimmune Cerebellar Ataxia (PACA)

Question 21

Examples of neurodegenerative ataxia

Answer 21

MSA-C (Multi System Atrophy - Cerebellar variant)

Question 22

Presentation of neurodegenerative ataxia

Answer 22

autonomic symptoms
ataxia
bulbar symptoms
respiratory hypoventilation
characteristic MRI finding

Question 23

What is Idiopathic sporadic ataxia

Answer 23

late onset ataxia of undetermined cause

proportion of pt’s likely immune-mediated

Question 24

Diagnosis of cerebellar ataxia

Answer 24

MRI brain

Demonstrates structural cerebellar dysfunction - cerebellar atrophy

Question 25

What diseases can you exclude with MRI brain (in diagnosis of cerebellar ataxia)

Answer 25

• cerebrovascular damage (posterior circulation stroke affecting the cerebellum or its connections)
• primary tumours (haemangioblastoma, acoustic neuroma, medulloblastoma)
• secondary tumours
• hydrocephalus, Chiari malformations
• multiple sclerosis (primary progressive)
• white matter involvement in leukodystrophy
• cerebellar dysgenesis/malformations

Question 26

What % of ataxia results from acquired diseases

Answer 26

acquired diseases account for the majority of causes of ataxia (80%)
with familial/genetic ataxias (20%) accounting for the remaining

Question 27

What % of progressive ataxias have no cause identified

Answer 27

up to 24%