Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Neuro > Cerebellar Disorders/ Diseases > Flashcards

Cerebellar Disorders/ Diseases Flashcards

1
Q

Features of the cerebellum

A
  • largest part of the hindbrain, located in posterior cranial fossa
  • comprises of two hemispheres joined by the vermis
    sub-divided into three lobes – anterior, posterior, and flocculonodular,
    separated by two transverse fissures
  • forms 10% brain volume, but is neuron rich
  • contains 80% of brain neurons organised in a dense cellular layer
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the most important cell layer in the cerebellum?

A

Purkinje cell layer:
Most important layer -Only output of the
cerebellar cortex

Cerebellar degeneration > Purkinje cell loss > ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Where are Purki cells found?

A

Between the molecular and granular layer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the role of the cerebellum?

A
  • accuracy and coordination
  • motor control and learning
  • contributes to timing and sensory acquisition
  • involved in the prediction of the sensory consequences of action
  • eye movements, speech, limb movements, fine motor skills, gait, posture,
    balance, cognition
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is ataxia?

A
  • ‘lack of order’
  • term used to describe problems with
    balance and co-ordination
  • heterogeneous group of disorders
  • many different causes
  • majority permanent and progressive
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Epidemiology of ataxia

A

rare condition
10, 000 adults and 500 children

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Inherited types of ataxia

A
  • autosomal dominant
  • autosomal recessive
  • X-linked
  • mitochondrial
  • metabolic*
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Types of acquired ataxia

A
  • toxic / metabolic*
  • immune mediated
  • infective
  • degenerative
  • structural (trauma, neoplastic)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Types of autosomal dominant ataxia

A

Several types of
spinocerebellar ataxias
SCA 6
* episodic ataxias
EA 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Autosomal recessive ataxia

A
  • Friedreich’s ataxia
    (FA)
  • SPG7
  • ataxia oculomotor
    apraxia type 1 and
    type 2 (AOA1, AOA2)
  • ataxia telangiectasia
  • ARSACS
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

X linked ataxia

A

Fragile X Tremor
Ataxia Syndrome
(FXTAS)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Mitochondrial ataxia

A
  • mtDNA
  • nuclear DNA
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Metabolic ataxia

A
  • Niemann-Pick Type C
  • Tay-Sach’s disease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Toxic/ metabolic ataxia

A
  • alcohol
  • vitamin deficiencies
  • drug
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Immune mediated ataxia

A
  • paraneoplastic cerebellar degeneration
  • gluten related
  • Primary Autoimmune Cerebellar Ataxia
    (PACA)
    anti-GAD related
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Infective causes of ataxia

A

multi-system
atrophy
cerebellar variant
(MSA-C)
* progressive
supranuclear
palsy (PSP)

17
Q

Structural causes of ataxia

A

superficial
siderosis
* primary tumour
medulloblastoma
* vascular

18
Q

History for cerebellar dysfunction

A
  • age of onset
  • course / rate of progression
  • additional symptoms
  • pattern of involvement
  • family history
  • drug / alcohol hx
  • social history
19
Q

Symptoms of cerebellar dysfunction

A
  • dizzy – unsteady / wobbly / clumsy
  • falls, stumbles
  • difficulty focusing / double vision / ‘oscillopsia’
  • slurred speech
  • problems with swallowing
  • tremor
  • problems with dexterity / fine motor skills
20
Q

Clinical signs of cerebellar dysfunction

A
  • nystagmus / jerky (saccadic) pursuit / hypo or hypermetropic saccades / optic atrophy / ptosis
  • dysarthria
  • intention tremor / myoclonus
  • dysmetria / past pointing / dysdiadochokinaesia
  • heel - shin ataxia
  • gait / limb / truncal ataxia
  • tone / reflexes
21
Q

SARA - (Scale for the Assessment and Rating of Ataxia)

A
  • mild mobilising independently or
    with one walking aid

moderate mobilising with 2 walking aids
or walking frame

severe predominantly wheelchair
dependent

22
Q

Diagnostic tests for cerebellar dysfunction

A

Blood tests in primary care:
FBC, U&E, extended LFT’s
* HbA1c, B12, folate, TSH
* ESR, CRP
* gluten related serology*

23
Q

Investigations in secondary care (depending on clinical presentation)

A

MRI Brain:
* essential in all patients with ataxia
* excludes structural causes
* demonstrates cerebellar atrophy*
* MR Spectroscopy Cerebellum – unique to Sheffield
sensitive in detecting cerebellar dysfunction
* CT brain, if MRI contraindicated
* MRI brain demonstrates cerebellar atrophy and / or dysfunction

24
Q

What will imaging with MRI exclude?

A

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

25
Q

Blood tests in secondary care

A
  • HLA typing for DQ2 / DQ8
  • autoimmune screen
  • gluten serology* (IgA & IgG anti- gliadin, TGT, IgA & IgG TG6)
  • anti-GAD
  • paraneoplastic antibodies
  • vitamin E (lipid adjusted)
  • copper / caeruloplasmin
  • specialist blood tests
  • genetics: whole genome
    sequencing

Neuro (19 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions