Cerebellar diseases. igbiti
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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.
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Cerebellar diseases. igbiti
- 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
- 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
- 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
Editor's Notes
- This is about ten per cent of the weight of the cerebral hemispheres It is separated from the cerebrum by a fold of dura mater called the tentorium cerebelli.
- 5 brothers out of his 12 siblings with unrelated deaths, however one died at age 19 following speech and swallowing difficulties. A brother developed frequent falls and dementia, age 54, 2 others suffer progressive imbalance Had 7 children, 3 had died. A daughter died at age 6, following unsteady gait, speech and swallowing difficulties.
- Combination of nystagmus+ dysarthria + intention tremors constitutes Charcot’s triad, which is highly diagnostic of MS.