Ataxia-Telangiectasia

M. Scavina

doi:10.1016/B978-0-12-374105-9.00156-8

Ataxia-Telangiectasia

M. Scavina

Nemours Children's Hospital, Delaware

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

1 Scopus citations

Abstract

Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive cerebellar ataxia, predisposition to sinus and respiratory infections, and an increased risk of malignancies. In 1995, the gene for AT was discovered and is known as the AT-mutated (ATM) gene. Mutations in the gene cause abnormalities in DNA stability.

Original language	English
Title of host publication	Encyclopedia of Movement Disorders
Publisher	Elsevier Inc.
Pages	91-93
Number of pages	3
ISBN (Electronic)	9780123741059
ISBN (Print)	9780123741011
DOIs	https://doi.org/10.1016/B978-0-12-374105-9.00156-8
State	Published - 1 Jan 2010

Keywords

ATM gene
Ataxia
Cerebellum
Choreoathetosis
DNA damage
Dystonia
Ionizing radiation
Malignancy
Myoclonus
Oculomotor apraxia
Sinopulmonary infections
Telangiectasia

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10.1016/B978-0-12-374105-9.00156-8

Cite this

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title = "Ataxia-Telangiectasia",

abstract = "Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive cerebellar ataxia, predisposition to sinus and respiratory infections, and an increased risk of malignancies. In 1995, the gene for AT was discovered and is known as the AT-mutated (ATM) gene. Mutations in the gene cause abnormalities in DNA stability.",

keywords = "ATM gene, Ataxia, Cerebellum, Choreoathetosis, DNA damage, Dystonia, Ionizing radiation, Malignancy, Myoclonus, Oculomotor apraxia, Sinopulmonary infections, Telangiectasia",

author = "M. Scavina",

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PY - 2010/1/1

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N2 - Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive cerebellar ataxia, predisposition to sinus and respiratory infections, and an increased risk of malignancies. In 1995, the gene for AT was discovered and is known as the AT-mutated (ATM) gene. Mutations in the gene cause abnormalities in DNA stability.

AB - Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by progressive cerebellar ataxia, predisposition to sinus and respiratory infections, and an increased risk of malignancies. In 1995, the gene for AT was discovered and is known as the AT-mutated (ATM) gene. Mutations in the gene cause abnormalities in DNA stability.

KW - ATM gene

KW - Ataxia

KW - Cerebellum

KW - Choreoathetosis

KW - DNA damage

KW - Dystonia

KW - Ionizing radiation

KW - Malignancy

KW - Myoclonus

KW - Oculomotor apraxia

KW - Sinopulmonary infections

KW - Telangiectasia

UR - https://www.scopus.com/pages/publications/85069882671

U2 - 10.1016/B978-0-12-374105-9.00156-8

DO - 10.1016/B978-0-12-374105-9.00156-8

M3 - Chapter

AN - SCOPUS:85069882671

SN - 9780123741011

SP - 91

EP - 93

BT - Encyclopedia of Movement Disorders

PB - Elsevier Inc.

ER -

Ataxia-Telangiectasia

Abstract

Keywords

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