Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia
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Ataxia-telangiectasia (A-T) is an autosomal recessive inherited disease with a prevalence of 1:40.000–1:100.000 which is characterized by progressive childhood-onset cerebellar ataxia, oculomotor apraxia, telangiectasias of the conjunctivae, hypersensitivity to ionizing radiation, and immunodeficiency. The disease is caused by mutations of the Ataxia telangiectasia mutated (ATM) gene located on chromosome 11q22-23 . ATM encodes the 350 kDa ATM protein, a nuclear serine/threonine protein kinase which is crucial in the cellular response to DNA damage such as double-strand breaks. Classic A-T is caused by two truncating ATM mutations which lead to a total loss of ATM protein resulting in an impaired cell cycle .
Additionally, non-classic forms exist where some residual ATM kinase function is maintained. These forms are summarized as variant A-T, including incomplete and atypical phenotypes, e.g., with ataxia plus extrapyramidal symptoms such as resting tremor, dystonia or...
KeywordsDystonia Deep Brain Stimulation Ataxia Telangiectasia Mutate Cervical Dystonia Compound Heterozygous Mutation
Conflicts of interest
The authors declare that they have no conflicts of interest.
This study was performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.