Cerebellar 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
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
3
Q
Where are Purki cells found?
A
Between the molecular and granular layer
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
5
Q
What is ataxia?
A
NAME?
6
Q
Epidemiology of ataxia
A
rare condition
10, 000 adults and 500 children
7
Q
Inherited types of ataxia
A
- autosomal dominant
- autosomal recessive
- X-linked
- mitochondrial
- metabolic*
8
Q
Types of acquired ataxia
A
- toxic / metabolic*
- immune mediated
- infective
- degenerative
- structural (trauma, neoplastic)
9
Q
Types of autosomal dominant ataxia
A
Several types of
spinocerebellar ataxias
SCA 6
* episodic ataxias
EA 2
10
Q
Autosomal recessive ataxia
A
- Friedreich’s ataxia
(FA) - SPG7
- ataxia oculomotor
apraxia type 1 and
type 2 (AOA1, AOA2) - ataxia telangiectasia
- ARSACS
11
Q
X linked ataxia
A
Fragile X Tremor
Ataxia Syndrome
(FXTAS)
12
Q
Mitochondrial ataxia
A
- mtDNA
- nuclear DNA
13
Q
Metabolic ataxia
A
- Niemann-Pick Type C
- Tay-Sach’s disease
14
Q
Toxic/ metabolic ataxia
A
- alcohol
- vitamin deficiencies
- drug
15
Q
Immune mediated ataxia
A
- paraneoplastic cerebellar degeneration
- gluten related
- Primary Autoimmune Cerebellar Ataxia
(PACA)
anti-GAD related
