FRIEDREICHʼS ATAXIA

نویسندگان

چکیده

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A Case Study of Ataxia Teilangiectasia Associated with Hodgkin Diease

A case of ataxia telangiectasia in a 7 year-old boy associated with Hodgkin disease was presented. Abnormalities of motion along with repeated respiratory tract infections requiring hospitalization started when he was 2 years old. The patient was placed on MOPP protocol Hodgkin treatment in addition to replace­ment therapy as advised. 

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Objective Ataxia-telangiectasia (AT) is a rare, severe, and ineluctably progressive multisystemic neurodegenerative disease. Variant AT phenotypes have been described in patients with mildand late-onset neurologic deterioration and atypical features (dystonia and myoclonus). We report on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genoty...

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ژورنال

عنوان ژورنال: The Journal of Nervous and Mental Disease

سال: 1910

ISSN: 0022-3018

DOI: 10.1097/00005053-191007000-00002