Cerebellar ataxia

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Cerebellar ataxia
Specialty Neurology

Cerebellar ataxia is a form of ataxia originating in the cerebellum. [1] Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias.

Contents

Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. [2] Lesions to the cerebellum can cause dyssynergia, dysmetria, dysdiadochokinesia, dysarthria and ataxia of stance and gait. [3] Deficits are observed with movements on the same side of the body as the lesion (ipsilateral). [2] Clinicians often use visual observation of people performing motor tasks in order to look for signs of ataxia. [2]

Signs and symptoms

Damage to the cerebellum causes impairment in motor skills and can cause nystagmus. Almost a third of people with isolated, late onset cerebellar ataxia go on to develop multiple system atrophy. [4]

The cerebellum's role has been observed as not purely motor. It is combined with intellect, emotion and planning. [5] Cerebellar deficits can be estimated using clinical rating scales, such as SODA for ocular deficits. [6]

Causes

A male with gluten ataxia: previous situation and evolution after 3 months of gluten-free diet.

There are many causes of cerebellar ataxia including, among others, gluten ataxia, [7] autoimmunity to Purkinje cells or other neural cells in the cerebellum, [8] CNS vasculitis, multiple sclerosis, infection, bleeding, infarction, tumors, direct injury, toxins (e.g., alcohol), genetic disorders and neurodegenerative diseases (such as progressive supranuclear palsy and multiple system atrophy). Gluten ataxia accounts for 40% of all sporadic idiopathic ataxias and 15% of all ataxias. [9]

Primary auto-immune ataxias (PACA) lack diagnostic biomarkers. [10] Cerebellar ataxias can be classified as sporadic, autosomal recessive, X-linked, autosomal dominant and of mitochondrial origin. [11]

Treatment

"For many years, it was thought that postural and balance disorders in cerebellar ataxia were not treatable. However, the results of several recent studies suggest that rehabilitation can relieve postural disorders in patients with cerebellar ataxia...There is now moderate level evidence that rehabilitation is efficient to improve postural capacities of patients with cerebellar ataxia – particularly in patients with degenerative ataxia or multiple sclerosis. Intensive rehabilitation programs with balance and coordination exercises are necessary. Although techniques such as virtual reality, biofeedback, treadmill exercises with supported bodyweight and torso weighting appear to be of value, their specific efficacy has to be further investigated. Drugs have only been studied in degenerative ataxia, and the level of evidence is low." [12]

Some effects of cerebellar ataxia may be reduced to varying degrees by means of Frenkel exercises.

One main objective of the treatment is to re-establish the physiological inhibition exerted by the cerebellar cortex over cerebellar nuclei. [13] Research using Transcranial direct-current stimulation (TDCS) and Transcranial magnetic stimulation (TMS) shows promising results. [14]

Additionally, mild to moderate cerebellar ataxia may be treatable with buspirone. [15]

It is thought that the buspirone increases the serotonin levels in the cerebellum and so decreases ataxia.

Behavioral intervention

Behavioral intervention is successful when it involves engaging knowledge of the interests and general backgrounds of individuals with cerebellar ataxia. An intervention technique for speech is to focus on optimizing respiratory and vocal resources as well as training compensatory strategies. [16]

See also

Related Research Articles

Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.

<span class="mw-page-title-main">Gluten</span> Group of cereal grain proteins

Gluten is a structural protein naturally found in certain cereal grains. The term gluten usually refers to the combination of prolamin and glutelin proteins that naturally occur in many cereal grains, and which can trigger celiac disease in some people. The types of grains that contain gluten include all species of wheat, and barley, rye, and some cultivars of oat; moreover, cross hybrids of any of these cereal grains also contain gluten, e.g. triticale. In cookery, the structural protein gluten is 75% to 85% of the total protein content in bread wheat, thus why baked goods made of bread wheat are aerated and elastic.

<span class="mw-page-title-main">Cerebellum</span> Structure at the rear of the vertebrate brain, beneath the cerebrum

The cerebellum is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as it or even larger. In humans, the cerebellum plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language as well as emotional control such as regulating fear and pleasure responses, but its movement-related functions are the most solidly established. The human cerebellum does not initiate movement, but contributes to coordination, precision, and accurate timing: it receives input from sensory systems of the spinal cord and from other parts of the brain, and integrates these inputs to fine-tune motor activity. Cerebellar damage produces disorders in fine movement, equilibrium, posture, and motor learning in humans.

<span class="mw-page-title-main">Cerebellar hypoplasia</span> Medical condition

Cerebellar hypoplasia is characterized by reduced cerebellar volume, even though cerebellar shape is (near) normal. It consists of a heterogeneous group of disorders of cerebellar maldevelopment presenting as early-onset non–progressive congenital ataxia, hypotonia and motor learning disability.

<span class="mw-page-title-main">Spinocerebellar ataxia</span> Medical condition

Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.

<span class="mw-page-title-main">Purkinje cell</span> Specialized neuron in the cerebellum

Purkinje cells, or Purkinje neurons, are a class of GABAergic inhibitory neurons located in the cerebellum. They are named after their discoverer, Czech anatomist Jan Evangelista Purkyně, who characterized the cells in 1839.

Dysmetria is a lack of coordination of movement typified by the undershoot or overshoot of intended position with the hand, arm, leg, or eye. It is a type of ataxia. It can also include an inability to judge distance or scale.

Cerebellar hypoplasia (CH) is a neurological condition in which the cerebellum is smaller than usual or not completely developed. It has been reported in many animal species.

Intention tremor is a dyskinetic disorder characterized by a broad, coarse, and low-frequency tremor evident during deliberate and visually-guided movement. An intention tremor is usually perpendicular to the direction of movement. When experiencing an intention tremor, one often overshoots or undershoots one's target, a condition known as dysmetria. Intention tremor is the result of dysfunction of the cerebellum, particularly on the same side as the tremor in the lateral zone, which controls visually guided movements. Depending on the location of cerebellar damage, these tremors can be either unilateral or bilateral.

<span class="mw-page-title-main">Gluten-related disorders</span> Set of diseases caused by gluten exposure

Gluten-related disorders is the term for the diseases triggered by gluten, including celiac disease (CD), non-celiac gluten sensitivity (NCGS), gluten ataxia, dermatitis herpetiformis (DH) and wheat allergy. The umbrella category has also been referred to as gluten intolerance, though a multi-disciplinary physician-led study, based in part on the 2011 International Coeliac Disease Symposium, concluded that the use of this term should be avoided due to a lack of specificity.

<span class="mw-page-title-main">Dyschronometria</span> Inability to estimate amount of time that has passed

Dyschronometria is a condition of cerebellar dysfunction in which an individual cannot accurately estimate the amount of time that has passed. It is associated with cerebellar ataxia, when the cerebellum has been damaged and does not function to its fullest ability. Lesions to the cerebellum can cause dyssynergia, dysmetria, dysdiadochokinesia, dysarthria, and ataxia of stance and gait. Dyschronometria can result from autosomal dominant cerebellar ataxia (ADCA).

Cerebellar cognitive affective syndrome (CCAS), also called Schmahmann's syndrome is a condition that follows from lesions (damage) to the cerebellum of the brain. It refers to a constellation of deficits in the cognitive domains of executive function, spatial cognition, language, and affect resulting from damage to the cerebellum. Impairments of executive function include problems with planning, set-shifting, abstract reasoning, verbal fluency, and working memory, and there is often perseveration, distractibility and inattention. Language problems include dysprosodia, agrammatism and mild anomia. Deficits in spatial cognition produce visual–spatial disorganization and impaired visual–spatial memory. Personality changes manifest as blunting of affect or disinhibited and inappropriate behavior. These cognitive impairments result in an overall lowering of intellectual function. CCAS challenges the traditional view of the cerebellum being responsible solely for regulation of motor functions. It is now thought that the cerebellum is responsible for monitoring both motor and nonmotor functions. The nonmotor deficits described in CCAS are believed to be caused by dysfunction in cerebellar connections to the cerebral cortex and limbic system.

<span class="mw-page-title-main">AFG3L2</span> Protein-coding gene in the species Homo sapiens

AFG3 ATPase family gene 3-like 2 is a protein that in humans is encoded by the AFG3L2 gene.

<span class="mw-page-title-main">Synaptopathy</span> Medical condition

A synaptopathy is a disease of the brain, spinal cord or peripheral nervous system relating to the dysfunction of synapses. This can arise as a result of a mutation in a gene encoding a synaptic protein such as an ion channel, neurotransmitter receptor, or a protein involved in neurotransmitter release. It can also arise as a result of an autoantibody targeting a synaptic protein. Synaptopathies caused by ion channel mutations are also known as synaptic channelopathies. An example is episodic ataxia. Myasthenia gravis is an example of an autoimmune synaptopathy. Some toxins also affect synaptic function. Tetanus toxin and botulinum toxin affect neurotransmitter release. Tetanus toxin can enter the body via a wound, and botulinum toxin can be ingested or administered therapeutically to alleviate dystonia or as cosmetic treatment.

<span class="mw-page-title-main">Autosomal recessive cerebellar ataxia type 1</span> Hereditary ataxia that has material basis in autosomal recessive inheritance

Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with their eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.

Oculomotor apraxia (OMA) is the absence or defect of controlled, voluntary, and purposeful eye movement. It was first described in 1952 by the American ophthalmologist David Glendenning Cogan. People with this condition have difficulty moving their eyes horizontally and moving them quickly. The main difficulty is in saccade initiation, but there is also impaired cancellation of the vestibulo-ocular reflex. Patients have to turn their head in order to compensate for the lack of eye movement initiation in order to follow an object or see objects in their peripheral vision, but they often exceed their target. There is controversy regarding whether OMA should be considered an apraxia, since apraxia is the inability to perform a learned or skilled motor action to command, and saccade initiation is neither a learned nor a skilled action.

<span class="mw-page-title-main">Autosomal dominant cerebellar ataxia</span> Medical condition

Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an autosomal dominant manner. ADCA is a genetically inherited condition that causes deterioration of the nervous system leading to disorder and a decrease or loss of function to regions of the body.

<span class="mw-page-title-main">Spinocerebellar ataxia type 1</span> Rare neurodegenerative disorder

Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is characterized by neurological symptoms including dysarthria, hypermetric saccades, and ataxia of gait and stance. This cerebellar dysfunction is progressive and permanent. First onset of symptoms is normally between 30 and 40 years of age, though juvenile onset can occur. Death typically occurs within 10 to 30 years from onset.

<span class="mw-page-title-main">Cerebellar degeneration</span> Medical condition

Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. There are two types of cerebellar degeneration; paraneoplastic cerebellar degeneration, and alcoholic or nutritional cerebellar degeneration. As the cerebellum contributes to the coordination and regulation of motor activities, as well as controlling equilibrium of the human body, any degeneration to this part of the organ can be life-threatening. Cerebellar degeneration can result in disorders in fine movement, posture, and motor learning in humans, due to a disturbance of the vestibular system. This condition may not only cause cerebellar damage on a temporary or permanent basis, but can also affect other tissues of the central nervous system, those including the cerebral cortex, spinal cord and the brainstem.

Non-invasive cerebellar stimulation is the application of non-invasive neurostimulation techniques on the cerebellum to modify its electrical activity. Techniques such as transcranial magnetic stimulation (TMS) or transcranial direct current stimulation (tDCS) can be used. The cerebellum is a high potential target for neuromodulation of neurological and psychiatric disorders due to the high density of neurons in its superficial layer, its electrical properties, and its participation in numerous closed-loop circuits involved in motor, cognitive, and emotional functions.

References

  1. ↑ "Cerebellar ataxia". BBC News. November 30, 2004.
  2. 1 2 3 Ferrarin, M.; Gironi, M.; Mendozzi, L.; Nemni, R.; Mazzoleni, P.; Rabuffetti, M. (2005). "Procedure for the quantitative evaluation of motor disturbances in cerebellar ataxic patients". Medical & Biological Engineering & Computing. 43 (3): 349–56. doi:10.1007/BF02345812. PMID   16035223. S2CID   1307431.
  3. ↑ Diener, H.-C.; Dichgans, J. (1992). "Pathophysiology of cerebellar ataxia". Movement Disorders. 7 (2): 95–109. doi:10.1002/mds.870070202. PMID   1584245. S2CID   19100385.
  4. ↑ Multiple System Atrophy~differential at eMedicine
  5. ↑ Manto, Mario; Marien, Peter (2015). "Schmahmann's syndrome - identification of the third cornerstone of clinical ataxiology". Cerebellum & Ataxias. 2 (1): 2. doi: 10.1186/s40673-015-0023-1 . PMC   4552302 . PMID   26331045.
  6. ↑ Shaikh, A. G.; Kim, J. S.; Froment, C.; Koo, Y. J.; Dupre, N.; Hadjivassiliou, M.; Honnorat, J.; Kothari, S.; Mitoma, H.; Rodrigue, X.; Soong, B. W.; Subramony, S. H.; Strupp, M.; Schmahmann, J.; Manto, M. (2022). "Scale for Ocular motor Disorders in Ataxia (SODA)". Journal of the Neurological Sciences. 443: 120472. doi:10.1016/j.jns.2022.120472. PMID   36403298. S2CID   253156325.
  7. ↑ Mitoma H, Adhikari K, Aeschlimann D, Chattopadhyay P, Hadjivassiliou M, Hampe CS, et al. (2016). "Consensus Paper: Neuroimmune Mechanisms of Cerebellar Ataxias". Cerebellum (Review). 15 (2): 213–32. doi:10.1007/s12311-015-0664-x. PMC   4591117 . PMID   25823827.
  8. ↑ Jarius, S.; Wildemann, B. (2015). "'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia". J Neuroinflammation. 12 (1): 166. doi: 10.1186/s12974-015-0356-y . PMC   4574226 . PMID   26377085.
  9. ↑ Hadjivassiliou M, Sanders DD, Aeschlimann DP (2015). "Gluten-related disorders: gluten ataxia". Dig Dis (Review). 33 (2): 264–8. doi:10.1159/000369509. PMID   25925933. S2CID   207673823.
  10. ↑ Hadjivassiliou, Marios; Graus, Francesc; Honnorat, Jerome; Jarius, Sven; Titulaer, Maarten; Manto, Mario; Hoggard, Nigel; Sarrigiannis, Ptolemaios; Mitoma, Hiroshi (2020-04-23). "Diagnostic Criteria for Primary Autoimmune Cerebellar Ataxia-Guidelines from an International Task Force on Immune-Mediated Cerebellar Ataxias". Cerebellum (London, England). 19 (4): 605–610. doi: 10.1007/s12311-020-01132-8 . ISSN   1473-4230. PMC   7351847 . PMID   32328884.
  11. ↑ Manto, Mario; Gruol, Donna L.; Schmahmann, Jeremy; Koibuchi, Noriyuki; Rossi, Ferdinando, eds. (2013). Handbook of the Cerebellum and Cerebellar Disorders. Springer Netherlands. ISBN   9789400713321.
  12. ↑ Marquer, A.; Barbieri, G.; Pérennou, D. (2014). "The assessment and treatment of postural disorders in cerebellar ataxia: A systematic review". Annals of Physical and Rehabilitation Medicine. 57 (2): 67–78. doi: 10.1016/j.rehab.2014.01.002 . PMID   24582474.
  13. ↑ Mitoma, H.; Manto, M. (2016-05-20). "The physiological basis of therapies for cerebellar ataxias". Therapeutic Advances in Neurological Disorders. 9 (5): 396–413. doi:10.1177/1756285616648940. PMC   4994778 . PMID   27582895.
  14. ↑ Grimaldi, Giuliana; Oulad Ben Taib, Nordeyn; Manto, Mario; Bodranghien, Florian (2014). "Marked reduction of cerebellar deficits in upper limbs following transcranial cerebello-cerebral DC stimulation: tremor reduction and re-programming of the timing of antagonist commands." Front Syst Neurosci. 8 (9): 9. doi: 10.3389/fnsys.2014.00009 . PMC   3906576 . PMID   24523678.
  15. ↑ Trouillas, Paul; Xie, Jing; Adeleine, Patrice (1996). "Treatment of cerebellar ataxia with buspirone: a double-blind study". The Lancet. 348 (9029): 759. doi:10.1016/S0140-6736(05)65674-7. PMID   8806320. S2CID   29423962.
  16. ↑ Schalling, Ellika; Hartelius, Lena (2013). "Speech in spinocerebellar ataxia". Brain and Language. 127 (3): 317–22. doi:10.1016/j.bandl.2013.10.002. PMID   24182841. S2CID   24639141.
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