Ataxia telangiectasia historical perspective: Difference between revisions
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== 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 == | ||
Revision as of 15:44, 12 June 2020
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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.[1]
References
- ↑ 1.0 1.1 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161405/#R13. Missing or empty
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