Ataxia telangiectasia: Difference between revisions
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== [[Ataxia telangiectasia classification|Classification]] == | == [[Ataxia telangiectasia classification|Classification]] == | ||
The [[ataxia]]s can be divided into:<ref name="pmid31048364">{{cite journal| author=de Silva RN, Vallortigara J, Greenfield J, Hunt B, Giunti P, Hadjivassiliou M| title=Diagnosis and management of progressive ataxia in adults. | journal=Pract Neurol | year= 2019 | volume= 19 | issue= 3 | pages= 196-207 | pmid=31048364 | doi=10.1136/practneurol-2018-002096 | pmc=6585307 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31048364 }} </ref> | *The [[ataxia]]s can be divided into:<ref name="pmid31048364">{{cite journal| author=de Silva RN, Vallortigara J, Greenfield J, Hunt B, Giunti P, Hadjivassiliou M| title=Diagnosis and management of progressive ataxia in adults. | journal=Pract Neurol | year= 2019 | volume= 19 | issue= 3 | pages= 196-207 | pmid=31048364 | doi=10.1136/practneurol-2018-002096 | pmc=6585307 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31048364 }} </ref> | ||
*[[Genetic]] (with or without a [[family history]]) and those that are [[acquired]]/[[degenerative]]. | **[[Genetic]] (with or without a [[family history]]) and those that are [[acquired]]/[[degenerative]]. | ||
*[[Sporadic]] [[ataxia]] implies there is no [[family history]]. | **[[Sporadic]] [[ataxia]] implies there is no [[family history]]. | ||
*[[Acquired]] progressive [[ataxia]]s can be: | **[[Acquired]] progressive [[ataxia]]s can be: | ||
**[[Immune]] mediated ([[paraneoplastic]] [[spinocerebellar]] [[degeneration]], [[gluten]] [[ataxia]]) | ***[[Immune]] mediated ([[paraneoplastic]] [[spinocerebellar]] [[degeneration]], [[gluten]] [[ataxia]]) | ||
**[[Degenerative]] ([[cerebellar]] variant of [[multiple systems]] [[atrophy]] (type C)) | ***[[Degenerative]] ([[cerebellar]] variant of [[multiple systems]] [[atrophy]] (type C)) | ||
**Caused by [[deficiency]] states ([[vitamin B12]], [[vitamin E]]) | ***Caused by [[deficiency]] states ([[vitamin B12]], [[vitamin E]]) | ||
**[[Toxicity]] (eg, [[alcohol]]-related [[ataxia]], [[phenytoin]]) | ***[[Toxicity]] (eg, [[alcohol]]-related [[ataxia]], [[phenytoin]]) | ||
**Associated with [[infection]]s ([[HIV]], [[sporadic]] [[Creutzfeldt-Jakob disease]], progressive multifocal leucoencephalopathy). | ***Associated with [[infection]]s ([[HIV]], [[sporadic]] [[Creutzfeldt-Jakob disease]], progressive multifocal leucoencephalopathy). | ||
*[[Inherited]] [[ataxia]]s can have [[autosomal dominant]], [[autosomal recessive]], [[X-linked]] or [[mitochondrial]] ([[maternal]]) [[inheritance]]. | **[[Inherited]] [[ataxia]]s can have [[autosomal dominant]], [[autosomal recessive]], [[X-linked]] or [[mitochondrial]] ([[maternal]]) [[inheritance]]. | ||
*[[Metabolic disorder]]s ([[Niemann-Pick]] type C, [[Tay-Sachs disease]]). | **[[Metabolic disorder]]s ([[Niemann-Pick]] type C, [[Tay-Sachs disease]]). | ||
*There is no established system for the classification of [[Ataxia Telangiectasia]]. | |||
== [[Ataxia telangiectasia pathophysiology|Pathophysiology]] == | == [[Ataxia telangiectasia pathophysiology|Pathophysiology]] == | ||
Revision as of 16:09, 1 August 2021
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Seyed Arash Javadmoosavi, MD[2] Zaida Obeidat, M.D. For patient information, click here
| Ataxia telangiectasia | |
| ICD-10 | G11.3 |
|---|---|
| ICD-9 | 334.8 |
| OMIM | 208900 |
| DiseasesDB | 1025 |
| MedlinePlus | 001394 |
| MeSH | D001260 |
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Ataxia telangiectasia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Ataxia telangiectasia On the Web |
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American Roentgen Ray Society Images of Ataxia telangiectasia |
Synonyms and keywords: Louis-bar syndrome, Boder-sedgwick syndrome.
Overview
Ataxia telangiectasia (A-T)is an autosomal recessive disorder caused by mutations in the gene ATM (ataxia-telangiectasia mutated)(11q22.3). This gene is expressed commonly and encodes a protein kinase (ATM kinase) which plays a key role in the control of double-strand-break DNA repair. A-T is a progressive, multisystem disease that has a large number of complex and diverse manifestations that vary with age. The clinical picture of this condition can be very variable and the severity of the pulmonary, immunological and neurological manifestations varies widely between patients and is related to the severity of the underlying mutations and any residual ATM kinase activity. It has been recently suggested that the name A-T should be replaced by ATM syndrome. ATM syndrome represents a neurodegenerative disorder with multisystem involvement due to the absence or reduced levels of ATM protein and kinase activity. The syndrome is characterised by the presence of movement disorders, such as cerebellar ataxia, dystonia, chorea and myoclonus, in association with systemic abnormalities such as immunodeficiency, malignancies, oculocutaneous telangiectasias and an increase in α-fetoprotein levels. The disease most commonly presents with ataxia during the third or fourth year of life. The important first step in the evaluation of young children presenting with ataxia should be α-fetoprotein testing. The diagnosis should then be confirmed by genetic testing to identify the mutations and measure the product of the ATM gene, the protein kinase ATM. This diagnostic test is likely to be available in specialised laboratories only. Patients with A-T die prematurely, the leading causes of death being respiratory diseases and cancer. A minimally estimated annual mortality rate for white patients is 19.5/1000 for ages 15–19 years and reportedly three-fold higher for African-American patients.
Historical Perspective
Classification
- The ataxias can be divided into:[1]
- Genetic (with or without a family history) and those that are acquired/degenerative.
- Sporadic ataxia implies there is no family history.
- Acquired progressive ataxias can be:
- Immune mediated (paraneoplastic spinocerebellar degeneration, gluten ataxia)
- Degenerative (cerebellar variant of multiple systems atrophy (type C))
- Caused by deficiency states (vitamin B12, vitamin E)
- Toxicity (eg, alcohol-related ataxia, phenytoin)
- Associated with infections (HIV, sporadic Creutzfeldt-Jakob disease, progressive multifocal leucoencephalopathy).
- Inherited ataxias can have autosomal dominant, autosomal recessive, X-linked or mitochondrial (maternal) inheritance.
- Metabolic disorders (Niemann-Pick type C, Tay-Sachs disease).
- There is no established system for the classification of Ataxia Telangiectasia.
Pathophysiology
Causes
Differentiating Ataxia telangiectasia from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | CT | MRI | Other Diagnostic Studies
Treatment
Medical Therapy | Cost Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
Template:Phakomatoses and other congenital malformations not elsewhere classified
Template:Diseases of the nervous system
de:Louis-Bar-Syndrom it:Atassia teleangectasica he:תסמונת אטקסיה טלנגיאקטזיה sr:Атаксија-телеангиектатика
- ↑ de Silva RN, Vallortigara J, Greenfield J, Hunt B, Giunti P, Hadjivassiliou M (2019). "Diagnosis and management of progressive ataxia in adults". Pract Neurol. 19 (3): 196–207. doi:10.1136/practneurol-2018-002096. PMC 6585307 Check
|pmc=value (help). PMID 31048364.