This document provides an overview of cerebellar diseases. It discusses the epidemiology, anatomy, physiology, classification, clinical features, diagnosis, localization of lesions, and management of cerebellar diseases. The cerebellum regulates movement, balance, and motor learning through connections with other parts of the brain and spinal cord. Cerebellar diseases can be focal or diffuse, acquired or inherited. The diagnosis involves neurological examination and imaging studies, while treatment depends on the underlying cause.

1. CEREBELLAR
DISEASES
DR. IGBITI O.J.
INTERNAL MEDICINE DEPARTMENT
UATH - GWAGWALADA

2. Outline
 Introduction
 Epidemiology
 Anatomy
 Physiology
 Classification of disorders
 Clinical features of cerebellar diseases
 Making a diagnosis
 Localization of the lesion
 Management
 Conclusion
 References

3. Anatomy
o The cerebellum lies in the
posterior cranial fossa.
o Weighs about 150g in adults.
o Like the cerebrum, the cerebellum
has a superficial layer of grey
matter, the cerebellar cortex.
o The cerebellum lies behind the
pons and the medulla, separated
by the fourth ventricle.

5. Epidemiology
 Recent global epidemiological studies on ataxia reported
an estimated overall prevalence of 26/100,000 in children,
a prevalence rate of autosomal dominant hereditary
ataxia of 3.3/100,000
 A study in Egypt identified 17 cases of acquired ataxia, 8
were vascular, six were ataxic cerebral palsy subtype and
3 were post encephalitic.
 Case report on SCA-7 in ATBU Bauchi in a 52 year old
man.

6. Anatomy
Subdivisions of the Cerebellum
o The cerebellum consists of midline part called the vermis,
and of two lateral hemispheres
o It has two surfaces, superior and inferior
Three Lobes
o Flocculo-Nodular(small fluffy mass)
o Anterior
o Posterior

8. Functional Anatomy
 From the functional point of view, the cerebellum
is divided into 3 parts, along its longitudinal axis.
 Vestibulocerebellum/Archicerebellum
 Spinocerebellum/Paleocerebellum
 Cerebrocerebelum/neocerebellum

9. Functional Anatomy

10. Functional and phylogenetic
classification

11. Functional Anatomy
 The vestibulocerebellum:
 It consists of the vermis, nodulus and the flocculus on
each side (flocculonodular lobe).
 This lobe is phylogenetically the oldest part of the
cerebellum,
 it has vestibular connections, and is concerned with
equilibrium and balance.
 It is thus referred as archicerebellum.

12. Functional Anatomy
 Spinocerebellum:(Paleocerebellum):
 It consists of the intermediate zone of the
cerebellar hemisphere.,
 This region receives proprioceptive input from the
body and a copy of the motor plan from the
motor cortex.
 It is concerned with coordination of movement.

13. Functional Anatomy
 Cerebrocerebellum:(neocerebellum):
 It is the lateral portion of the cerebellar
hemisphere.
 It is concerned with planning and programming of
movements.
 It is connected mainly to the cerebral cortex.

14. Functions of the cerebellum
1. Control of tone and posture.
 Mainly the function of the spinocerebellum.
 Change in body posture:
 Receives proprioception from the body: spino, ceneo and
tectocerebellar tracts
 Reflex correction of muscle tone:
 From cerebelloreticular, cerebello vestibular,
vestibulospinal, reticulospinal
 Easy maintenance of new posture

15. Functions of the cerebellum
2. Control of equilibrium
 Mainly the function of the vestibulocerebellum.
 Change in head position/acceleration - Labyrinthine
afferents – vestibulocerebelar - correction of muscle tone –
cerebellovestibular, vestibulospinal – AHC maintenance of
body equilibrium.

16. Functions of the cerebellum
3. Control of voluntary movement
 The cerebellum acts as a comparator servo mechanism
 It receives two types of information:
Intended plan of movement
What actual movements result.
 These two are compared and an error is calculated. The
corrective output signal goes to the motor cortex and
braistem nuclei and then down to the anterior horn cells

17. Functions of the cerebellum
 planning of movements
 Timing and sequencing of movements
 Particularly during rapid movements such as during
walking, running
 From the peripheral feedback & motor cortical impulses,
cerebellum calculates when a movement should begin and
stop

18. Functions of the cerebellum
 ‘Prevention of overshoot’
Soon after a movement has been initiated
cerebellum send signals to stop the movement at the
intended point (otherwise overshooting occurs)
 Ballistic movements
 Rapid movements of the body, eg. finger movements during
typing, rapid eye movements (saccadic eye movements)

19. Functions of the cerebellum
Function Mechanism Division of the cerebellum
involved
Regulation of tone, posture
and equilibrium
• By receiving impulses from the
vestibular apparatus.
• By receiving impulses from the
proprioceptors in muscles,
tendons and joints, tactile
receptors, visual receptors and
auditory receptors.
Vestibulocerebellum
Spinocerebellum
Regulation of coordinated
movements
• Damping action
• Control of ballistic movements
• Timing and programming the
movements
• Servomechanism
• Comparator function
Corticocerebellum

20. Cerebellar diseases
FOCAL AND IPSILATERAL
 Acute (hours to days)
Vascular: cerebellar infarction, hemorrhage, subdural
hematoma.
Infectious: cerebellar abscess.
 Subacute (days to weeks)
Neoplastic (gliomas, metastatic)
Demyelinating (multiple sclerosis)
AIDS related multifocal leucoencephalopathy

21. Cerebellar diseases
 Chronic (months to years)
Stable gliosis
Congenital lesions (chiari or dandy walker
malformations)

22. Cerebellar diseases
SYMMETRIC AND PROGRESSIVE
 Acute (hours to days)
Intoxication: alcohol, lithium, phenytoin,
barbiturates.
Acute viral cerebellitis
Post infection syndrome.
 Subacute (days to weeks)
Intoxication: mercury, solvents, gasoline.
Alcoholic nutritional (vit B1 and B12 deficiency)

23. Cerebellar diseases
 Chronic (months to years)
Inherited ataxias
Paraneoplastic syndromes
Anti gliadin antibody syndrome
Hypothyroidism
Tertiary syphilis
Phenytoin toxicity
Amiodarone toxicity

24. Acute Focal
 Cerebellar stroke
 A component of posterior circulation stroke.
 Vessels affected:
Vertebral and posterior inferior cerebellar arteries
Basilar artery
 Embolic occlusion or thrombosis of a terminal vertebral
artery segment causes ischemia of the lateral medulla.

25.  The constellation of vertigo, numbness of the ipsilateral face
and contralateral limbs, diplopia, hoarseness, dysarthria,
dysphagia, and ipsilateral Horner’s syndrome is called the
lateral medullary (or Wallenberg’s) syndrome.
 Most cases result from ipsilateral vertebral artery occlusion;
in the remainder, PICA occlusion is responsible.

26.  Occlusion of the superior cerebellar artery results in severe
ipsilateral cerebellar ataxia, nausea and vomiting, dysarthria,
and contralateral loss of pain and temperature sensation
over the extremities, body, and face.
 Occlusion of the anterior inferior cerebellar artery produces
variable degrees of infarction because the size of this artery
and the territory it supplies vary inversely with those of the
PICA.

27. Inherited ataxias
 These may show autosomal dominant, autosomal
recessive, or maternal (mitochondrial) modes of
inheritance.
 Within families with dominantly inherited ataxias, many
gradations are observed from purely cerebellar
manifestations to mixed cerebellar and brainstem
disorders, cerebellar and basal ganglia syndromes, and
spinal cord affectation etc.

28. Autosomal dominant
 The autosomal dominant spinocerebellar ataxias (SCAs)
include spinocerebellar ataxia (SCA)types 1 through 48
dentatorubral -pallidoluysian atrophy (DRPLA), and episodic
ataxia (EA) types 1 to 7.
 The clinical phenotypes of these SCAs overlap.
 The genotype has become the gold standard for diagnosis
and classification.
 Although the phenotype is variable for any given disease
gene, a pattern of neuronal loss with gliosis is produced that
is relatively unique for each ataxia.

29. Autosomal recessive
 Friedreich’s Ataxia:
 The most common form of inherited ataxia, comprising
one-half of all hereditary ataxias.
 It can occur in a classic form or in association with a
genetically determined vitamin E deficiency syndrome
 The two forms are clinically indistinguishable.

30.  Friedreich’s ataxia presents before age 25, usually with
progressive staggering gait, frequent falls, and titubation.
 The lower extremities are more severely affected than upper.
 Dysarthria occasionally is the presenting symptom; or
cardiopathy is the initial sign.
 The neurologic examination reveals nystagmus, loss of fast
saccadic eye movements, dysmetria, and ataxia of trunk and
limb movements.

31.  Median age of death is 35 years.
 Women have a significantly better prognosis than men.
 Cardiac involvement occurs in 90% of patients.
Cardiomegaly, symmetric hypertrophy, murmurs, and
conduction defects are reported. Moderate mental
retardation or psychiatric syndromes are present in a small
percentage of patients.
 The primary sites of pathology are the spinal cord, dorsal
root ganglion cells, and the peripheral nerves.
 Slight atrophy of the cerebellumand cerebral gyri may
occur.

32.  Ataxia Telangiectasia :
 Patients with ataxia telangiectasia (AT) present in the
first decade of life with progressive telangiectatic
lesions associated with deficits in cerebellar function
and nystagmus.
 The neurologic manifestations correspond to those in
Friedreich’s disease, and should be included in the
differential diagnosis.

33. Manifestation of Cerebellar diseases
 Dysmetria: the inability to adjust the movements to a certain
distance when attempting to touch an object with a finger.
 Can have hypermetria or hypometria
 It’s due to failure of damping and timing functions of the
cerebellum.
 This is tested by the finger nose test.

34. Manifestation of Cerebellar diseases

35. Manifestation of Cerebellar diseases

36. Manifestation of Cerebellar diseases
 Dysarthria: there is difficulty in producing clear
speech as a result of failure of smooth progression
and prediction of movements in the muscles of the
larynx, mouth and respiratory muscles.

37. Manifestation of Cerebellar diseases
 Dysdiadochokinesia
The inability to perform rapid
alternate opposite movements such
as repeated pronation and
supination of the hands.
This is due to failure of predictive
and smooth progression function of
the cerebellum.

38. Manifestation of Cerebellar diseases
 Rebound phenomenon: an
overshooting of a limb when a
resistance to its movement is
removed.
 A patient with cerebellar disease
can not stop movement of the
limb and the forearm flies
backwards.

39. Manifestation of Cerebellar diseases
 Decomposition of movement: there is difficulty
performing simultaneous movements at more than one
joint.
 Nystagmus: tremors of the eyeballs that occur when one
tries to fix an object to one side of the head.
 Staggering gait: patient walks on a wide base in an
unsteady drunken, swaying manner and tends to fall on
the affected side.

40. Manifestation of Cerebellar diseases
 Intention tremors: terminal tremors at the end of
movement as in touching nose or button the shirt.
 Titubation: abnormal nodding movement of the head or
body.

42. Management
 History
Complaints
Onset
Associated features
Past medical history
Family history
Social history
 Physical examination:
Appearance
Gait (on walking in)
 Listen to speech pattern

43. Management
 Neurological exam.
Cerebellar examination:
Dysarthria
Nystagmus
Dysmetria
Rebound phenomenon
Dysdiadochokinesia
 Heel to shin test
 Pendular jerk
 Tandem walking
 Gait

44. Localizing the lesion

45. Localizing the lesion

46. Localizing the lesion
Manifestations of bilateral cerebellar lesions (caused by
alcoholic intoxication, hypothyrodism, cerebellar
degeneration & multiplesclerosis) :
 Dysarthria
 Incoordination of both arms.= intention tremors.
 Intermittent jerky movements or staggering ,
 Wide-based, unsteady gait.
 Nystagmus.

47. Localizing the lesion
 Vermal lesions will result in difficulties with maintaining
posture, gait or balance. Should be differentiated from
sensory ataxia
 Lesions that include the cerebellar hemispheres produce a
number of dysfunctions in addition to intention tremors.

48. Localizing the lesion
 Anterior vermis syndrome
involves the leg region of the anterior lobe.
Results from atrophy of the rostral vermis, most commonly
caused by alcohol abuse.
Results in gait, trunk, and leg dystaxia.
 Posterior vermis syndrome
Involves flocculonodular lobe
Usually as a result of brain tumours in children, mostly
medulloblastomas.
Results in truncal dystaxia

49. Investigations
 Investigations are guided by the presentation.
 FBC + ESR,
 EUCr, FLP, liver function tests
 Brain imaging
 Viral serologies, ceruloplasmin levels, serum urine and copper.
 The cerebrospinal fluid should be tested for a syphilitic infection in
patients with progressive ataxia and other features of tabes dorsalis.
 Similarly, antibody titers for Lyme disease and Legionella should be
measured
 Genetic studies

50. Treatment
 The most important goal in management of patients with
cerebellar diseases is to identify treatable disease entities.
 Acute stroke management, and management of
complications
 Mass lesions must be recognized promptly and treated
appropriately.
 Paraneoplastic disorders can often be identified and the
underlying the primary cancer addressed; these disorders
are often refractory to therapy, but some patients improve
following tumor removal

51.  Ataxia with antigliadin antibodies and gluten-sensitive
enteropathy may improve with a gluten-free diet.
 Malabsorption syndromes leading to vitamin E, B1, B12
deficiency may lead to ataxia.
 Hypothyroidism is easily treated with thyroxine replacement
 Aminoacidopathies, leukodystrophies,
 urea-cycle abnormalities, and mitochondrial
encephalomyopathies may produce ataxia, and some dietary or
metabolic therapies are available for these disorders

52.  The deleterious effects of phenytoin and alcohol on the
cerebellum are well known, and these exposures should be
avoided in patients with ataxia of any cause.
 There is no proven therapy for any of the autosomal
dominant ataxias (SCA1 to SCA36).
 There is preliminary evidence that idebenone, a free-
radical scavenger, can improve myocardial hypertrophy in
patients with classic Friedreich’s ataxia; there is no current
evidence, however, that it improves neurologic function.

53.  A small preliminary study showed a possibility that the
glutamate antagonist riluzole may offer modest benefit.
 Iron chelators and antioxidant drugs are potentially
harmful in Friedreich’s patients because they may increase
heart muscle injury.
 Acetazolamide can reduce the duration of symptoms of
episodic ataxia. At present, identification of an at-risk
person’s genotype, together with appropriate family and
genetic counseling, can reduce the incidence of these
cerebellar syndromes in future generations.

54. Treatment
 Multidisciplinary approach headed by the
neurologist. To also involve behavoural
physicians, physiotherapists, speech therapist
etc. and other specialties and subspecialties as
defined by the aetiologic diagnosis.

55. Conclusion
 The cerebellum is responsible for coordination of
movement, and diseases of the cerebellum manifest in a
wide spectrum of movement disorders.
 Diagnosis of cerebellar diseases is usually clinical though
the aetiologies are extensive.
 Management is targeted at the cause.
 Friedrich’s ataxia is the commonest cause of cerebellar
ataxia.
 With supportive care, a significant level of comfort can be
achieved and maintained in patients with cerebellar
diseases.

56. References
 Physiology of some signs of nervous system disorders, Kanu E.O Nkanginieme et al,
pathophysiology of clinical signs and symptoms and laboratory parameters. pg 269-276, c
2016.
 Ataxic disorders, Roger N. Rosenberg, Harrisson’s principles of internal medicine, 19th
edition pg 3334-3344
 Cerebellar disorders, Hector A. Gonzales-Usigli, MSD Manual .
 Textbook of neuroanatomy 8th edition, Indebir Singh
 Cerebellum PPT, Dr Raghuveer Choudhary, Associate Professor Dept. of Physiology, Dr
S.N.Medical College,Jodhpur