Ataxia

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Classification according to ICD-10
R27.0 Ataxia, unspecified
ICD-10 online (WHO version 2019)

Ataxia (from Greek ἀταξία ataxia , disorder, irregularity) is a generic term in medicine for various disorders of movement coordination. Ataxia can occur even if there is no paralysis, i.e. with normal muscle strength.

Forms of ataxia

As truncal ataxia is defined as the inability to sit upright, so that those concerned only with the help of a support sit or stand. Similarly, standing ataxia is the inability to stand, so that the affected person can only stand and walk with help.

People with gait ataxia have an unsteady gait pattern with their legs apart. A ataxia in target movements (also called afferent ataxia) leads to movements wrong proportions with addition-Show ( Dysmetria to shooting-emergent movements), ( hypermetria ) or unflüssig-shaky movements ( asynergy ) and thus to the inability of a rapid succession of antagonistic movements ( Dysdiadochokinesis ).

Causes of ataxias

Any disease that damages the organ systems of the nervous system that are involved in movement control can cause ataxia.

The most common cause of ataxias are diseases of the cerebellum . This is responsible for the coordination of the sensitive information from the spinal cord , the information of the organ of equilibrium and the other sensory impressions and their implementation in motor movement sequences, i.e. the planning, coordination and fine-tuning of movements.

Ataxias can therefore also occur if the sensitive information arriving via the spinal cord is missing from the peripheral sensitive nerves , joints and muscles . As a result, the fine control required for targeted motor movements is lacking, and so-called sensitive ataxia occurs.

Gait ataxia also occurs with hydrocephalus normalis, also called age-related hydrocephalus or normal pressure hydrocephalus . In this case, the cerebral water (liquor) produced is no longer absorbed in sufficient quantities or distributed in the ventricles; there is a temporary overpressure in the brain, which influences and other factors. a. the nerves that control movement. In addition to gait ataxia, the urge to urinate and a reduction in cognitive performance, also known as reversible dementia, often occur in parallel. The simultaneous occurrence of these three symptoms is called the Hakim triad .

Secondary ataxias due to the copper metabolic disease Wilson's disease should also be considered in the differential diagnosis.

Cerebellar ataxia

Cerebellar circulatory disorders or cerebellar hemorrhages, i.e. strokes of the cerebellum, trigger ataxia.

Ataxias often occur in the course of inflammatory diseases of the nervous system with damage to the cerebellum and / or spinal cord. The most important inflammatory causes of cereberellar ataxia include multiple sclerosis , paraneoplastic and non-paraneoplastic antibody-associated autoimmune diseases and infectious or post-infectious ataxias (e.g., among many others, zoster cerebellitis, cerebellar abscess , rarely borreliosis after a tick bite) .

Brain tumors or metastases in the cerebellum and entrapment of the cerebellum in the context of a diffusely increased intracranial pressure of any cause lead to ataxia, unless the consciousness is impaired beforehand .

Ataxias can be triggered by chronic poisoning , in humans most frequently by acute cerebellar dysfunction in the context of acute alcohol intoxication ( reversible) or by chronic alcoholism (poorer improvement tendency). As a symptom of an overdose of medication, ataxias, which are usually rapidly reversible, can occur, especially in the case of overdosing or increasing the dose of antiepileptic drugs too quickly , as well as a common side effect of drugs from the group of benzodiazepines , even in small quantities, which, however, occur after discontinuation is reversible. Ataxias caused by poisoning with heavy metals (especially mercury ) or pesticides are extremely rare.

Furthermore, genetic diseases can be associated with cerebellar ataxia (e.g. spinocerebellar ataxias ), for example in Richards-Rundle syndrome or Gillespie syndrome .

Gluten ataxia

A man with gluten ataxia before and after three months of a gluten-free diet

Gluten ataxia is an autoimmune disease caused by eating gluten . Early diagnosis and treatment with a gluten-free diet can relieve the discomfort and prevent it from progressing. The effectiveness of the treatment depends on the time since the onset of the ataxia, because the pathogenetic death of Purkinje cells in the cerebellar cortex is irreversible. Gluten ataxias make up about 40% of ataxias of unknown cause and about 15% of all ataxias. Less than 10% of those affected have gastroenterological symptoms, but 40% have damage to the intestines. Antibodies against transglutaminase 6 can be useful as biomarkers in diagnostics. With a gluten-free diet, your level falls considerably, sometimes below the detection threshold.

Spinal or Sensitive Ataxia

Again, the most common cause is chronic alcohol poisoning. Similar to the cerebellum, the spinal cord is often affected by multiple sclerosis. Tumors in the spinal cord or spine are generally rare. Sensitive ataxia is more often caused by a vertebral metastasis that has broken into the spinal cord space. In veterinary medicine it is known as wobbler syndrome .

A not uncommon cause of sensitive ataxia is damage to the sensitive spinal cords due to a vitamin B 12 deficiency (so-called funicular myelosis ). This damage is completely reversible with appropriate treatment.

Other vitamin B deficiency diseases that can lead to ataxias are beriberi (B1 / thiamine deficiency ) and, to a lesser extent, pellagra (B3 / niacin deficiency ), due to malnutrition or malnutrition (e.g. in developing countries or due to neglect of food intake in anorexia nervosa and the like and alcoholism ).

Syphilis of the nervous system should be mentioned as important infectious causes of sensitive ataxia , as well as HIV and infection with the zoster virus .

Hereditary ataxias

Ataxias also occur in many, but overall rare genetically determined on (= hereditary) disease, the hereditary ataxias or Heredoataxien . These are autosomal - recessive or autosomal dominant inherited (ADCA = autosomal dominant cerebellar ataxia). The autosomal dominant ataxias are mostly called spinocerebellar ataxias (SCAs) today. A total of 28 chromosomal locations for SCAs are known, approximately half of which are cloned. What these diseases have in common is that they affect the cerebellum and / or the posterior cords of the spinal cord.

Autosomal recessive ataxias

The autosomal recessive inheritance

Autosomal Dominant Cerebellar Ataxias (ADCA)

The autosomal dominant inheritance

The group of autosomal dominant cerebellar ataxias includes a variety of diseases:

X-linked ataxias

Systematic classification

Another classification according to clinical criteria:

See also

Web links

Wiktionary: Ataxia  - explanations of meanings, word origins, synonyms, translations

Individual evidence

  1. ↑ S. Jarius, B. Wildemann: 'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj / ITPR1 and anti-CARP VIII J Neuroinflammation 2015; 12, 166 (free)
  2. ↑ S. Jarius, B. Wildemann: 'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca / ARHGAP26 and anti-VGCC J Neuroinflammation 2015; 12, 167 (free)
  3. ↑ S. Jarius, B. Wildemann: 'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 3: Anti-Yo / CDR2, anti-Nb / AP3B2, PCA-2, anti-Tr / DNER, other antibodies, diagnostic pitfalls, summary and outlook J Neuroinflammation 2015; 12, 168 (free)
  4. ↑ a b c Mitoma H, Adhikari K, Aeschlimann D, Chattopadhyay P, Hadjivassiliou M, Hampe CS et al .: Consensus Paper: Neuroimmune Mechanisms of Cerebellar Ataxias . In: Cerebellum . 15, No. 2, 2016, pp. 213-232. doi : 10.1007 / s12311-015-0664-x . PMID 25823827 . PMC 4591117 (free full text).
  5. ↑ Sapone A, Bai JC, Ciacci C, Dolinsek J, Green PH, Hadjivassiliou M, Kaukinen K, Rostami K, Sanders DS, Schumann M, Ullrich R, Villalta D, Volta U, Catassi C, Fasano A: Spectrum of gluten- related disorders: consensus on new nomenclature and classification . In: BMC Medicine . 10, 2012, p. 13. doi : 10.1186 / 1741-7015-10-13 . PMID 22313950 . PMC 3292448 (free full text).
  6. ↑ a b c Hadjivassiliou M, Sanders DD, Aeschlimann DP: gluten-related disorders: gluten ataxia . In: Dig Dis . 33, No. 2, 2015, pp. 264–268. doi : 10.1159 / 000369509 . PMID 25925933 .
  7. ↑ a b M. Hadjivassiliou, P. Aeschlimann, DS Sanders, M. Maki, K. Kaukinen: transglutaminase 6 antibodies in the diagnosis of gluten ataxia . In: Neurology . tape 80 , no. 19 , May 7, 2013, ISSN  0028-3878 , p. 1740–1745 , doi : 10.1212 / WNL.0b013e3182919070 ( neurology.org [accessed April 8, 2020]).
  8. ↑ Flexicon