Ataxia telangiectasia historical perspective: Difference between revisions
| (One intermediate revision by one other user not shown) | |||
| Line 6: | Line 6: | ||
== Historical Perspective == | == Historical Perspective == | ||
The term '''Ataxia-Telangiectasia''' was initially advanced by Boder and Sedgwick in 1957,in which described eight patients with classical '''A-T''', while in 1958 Centerwall and Miller entitled it Louis-Bar syndrome which relates to Madame Louis-Bar, a Belgian neurologist who published a case report of a 9 year-old boy with [[cutaneous telangiectasia]] and progressive [[cerebellar ataxia]]. She initially classified this new disease in the group of [[phacomatosis ]] '''PPV'''. In 1993, a case report was published about a 17 year-old boy with cerebellar araxia concomitant dystonia, myoclonus, pyramidal signs, pulmonary infection, persistent lymphopenia, immunoglobulin deficiency and rising alpha-fetoprotein, termed as '''ataxia with immune deficiency'''.<ref name="titleAtaxia-Telangiectasia: Immunodeficiency Disorders: Friedman JH, Weitberg A. Ataxia without telangiectasia. Mov Disord">{{cite web |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161405/#R13}}</ref> | The term '''[[Ataxia-Telangiectasia]]''' was initially advanced by Boder and Sedgwick in 1957,in which described eight patients with classical '''A-T''', while in 1958 Centerwall and Miller entitled it Louis-Bar syndrome which relates to Madame Louis-Bar, a Belgian neurologist who published a case report of a 9 year-old boy with [[cutaneous telangiectasia]] and progressive [[cerebellar ataxia]]. She initially classified this new disease in the group of [[phacomatosis ]] '''[[PPV]]'''. In 1993, a case report was published about a 17 year-old boy with [[cerebellar araxia]] concomitant [[dystonia]], [[myoclonus]], [[pyramidal signs]], [[pulmonary infection]], [[persistent]] [[lymphopenia]], [[immunoglobulin deficiency]] and rising [[alpha-fetoprotein]], termed as '''[[ataxia]] with [[immune deficiency]]'''.<ref name="titleAtaxia-Telangiectasia: Immunodeficiency Disorders: Friedman JH, Weitberg A. [[Ataxia]] without [[telangiectasia]]. Mov Disord">{{cite web |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161405/#R13}}</ref> | ||
In 1995, the responsible gene for '''[[A-T]]'''('''ATM''') was identified by Savitsky et al. In 2001, Stewart found a correlation with '''ATM kinase''' activity levels in cells and the degree of [[neurological]] [[symptoms]] in '''[[A-T]]''' patients.<ref name="titleAtaxia-Telangiectasia: Immunodeficiency Disorders: Friedman JH, Weitberg A. Ataxia without telangiectasia. Mov Disord">{{cite web |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161405/#R13}}</ref> | |||
== References == | == References == | ||
Latest revision as of 22:26, 31 July 2021
|
Ataxia telangiectasia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Ataxia telangiectasia historical perspective On the Web |
|
American Roentgen Ray Society Images of Ataxia telangiectasia historical perspective |
|
Risk calculators and risk factors for Ataxia telangiectasia historical perspective |
Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.
Historical Perspective
The term Ataxia-Telangiectasia was initially advanced by Boder and Sedgwick in 1957,in which described eight patients with classical A-T, while in 1958 Centerwall and Miller entitled it Louis-Bar syndrome which relates to Madame Louis-Bar, a Belgian neurologist who published a case report of a 9 year-old boy with cutaneous telangiectasia and progressive cerebellar ataxia. She initially classified this new disease in the group of phacomatosis PPV. In 1993, a case report was published about a 17 year-old boy with cerebellar araxia concomitant dystonia, myoclonus, pyramidal signs, pulmonary infection, persistent lymphopenia, immunoglobulin deficiency and rising alpha-fetoprotein, termed as ataxia with immune deficiency.[1] In 1995, the responsible gene for A-T(ATM) was identified by Savitsky et al. In 2001, Stewart found a correlation with ATM kinase activity levels in cells and the degree of neurological symptoms in A-T patients.[2]
References
- ↑ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161405/#R13. Missing or empty
|title=(help) - ↑ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161405/#R13. Missing or empty
|title=(help)