Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia
PF Worth, V Srinivasan, A Smith, JI Last… - Movement …, 2013 - Wiley Online Library
Background The major clinical feature of ataxia telangiectasia (A‐T) is severe progressive
neurodegeneration with onset in infancy. This classical A‐T phenotype is caused by biallelic …
neurodegeneration with onset in infancy. This classical A‐T phenotype is caused by biallelic …
[引用][C] Ataxia‐telangiectasia: A review of movement disorders, clinical features and genotype correlations‐Addendum
A Levy, AE Lang - Movement Disorders, 2018 - Wiley Online Library
Since the online publication of our article1, two relevant reports have been published that
merit mention. In one, a 27 year old woman with a past history of recurrent infections and …
merit mention. In one, a 27 year old woman with a past history of recurrent infections and …
[HTML][HTML] Myoclonus‐dystonia presentation of ATM gene mutation in a Canadian Mennonite
J Ganguly, MT Bernaola, S Goobie… - Movement Disorders …, 2022 - ncbi.nlm.nih.gov
A 14-year-old female of Canadian Old Colony Mennonite ancestry, product of non-
consanguineous union, with normal perinatal history and mild motor developmental delay …
consanguineous union, with normal perinatal history and mild motor developmental delay …
[HTML][HTML] Ataxia telangiectasia gene mutation in isolated segmental dystonia without ataxia and telangiectasia
J Necpál, M Zech, M Škorvánek… - Movement Disorders …, 2018 - ncbi.nlm.nih.gov
Discussion Typical AT is associated with ataxia and telangiectasias, immunodeficiency
(mainly lower Ig levels or lymphopenia), frequent pulmonary infections, increased sensitivity …
(mainly lower Ig levels or lymphopenia), frequent pulmonary infections, increased sensitivity …
Ataxia‐telangiectasia: a review of movement disorders, clinical features, and genotype correlations
A Levy, AE Lang - Movement Disorders, 2018 - Wiley Online Library
Ataxia‐telangiectasia is an autosomal recessive neurodegenerative disorder that was
initially thought to present exclusively in childhood. With the discovery of the ATM gene, the …
initially thought to present exclusively in childhood. With the discovery of the ATM gene, the …
[HTML][HTML] Dopa‐responsive dystonia and chorea as a presenting feature in ataxia‐telangiectasia
S Thompson, A Iyer, P Byrd, M Taylor… - Movement disorders …, 2014 - ncbi.nlm.nih.gov
Discussion AT is a multisystem condition characterized by progressive neurodegeneration
and oculocutaneous telangiectasias. Other manifestations include cellular and humoral …
and oculocutaneous telangiectasias. Other manifestations include cellular and humoral …
Beyond typical ataxia telangiectasia: how to identify the ataxia telangiectasia‐like disorders
IR Raslan, PCA de Assis Pereira Matos… - Movement Disorders …, 2021 - Wiley Online Library
Background Ataxia telangiectasia is one of the most common causes of autosomal recessive
cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha‐fetoprotein …
cerebellar ataxias. However, absence of telangiectasia, normal levels of alpha‐fetoprotein …
More than ataxia–movement disorders in ataxia-telangiectasia
HAG Teive, CHF Camargo, RP Munhoz - Parkinsonism & Related …, 2018 - Elsevier
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused
by mutations in the ATM gene with progressive neurological dysfunction, multisystem …
by mutations in the ATM gene with progressive neurological dysfunction, multisystem …
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia
C Kuhm, C Gallenmüller, T Dörk, M Menzel… - Journal of …, 2015 - Springer
Ataxia-telangiectasia (AT) is an autosomal recessive inherited disease with a prevalence of
1: 40.000–1: 100.000 which is characterized by progressive childhood-onset cerebellar …
1: 40.000–1: 100.000 which is characterized by progressive childhood-onset cerebellar …
Milestones in ataxia
T Klockgether, H Paulson - Movement Disorders, 2011 - Wiley Online Library
The past 25 years have seen enormous progress in the deciphering of the genetic and
molecular basis of ataxias, resulting in improved understanding of their pathogenesis. The …
molecular basis of ataxias, resulting in improved understanding of their pathogenesis. The …