Progressive familial choreoathetosis with cutaneous telangiectasia.
نویسندگان
چکیده
منابع مشابه
Familial Ataxia-telangiectasia.
A familial syndrome of progressive cerebellar ataxia and choreoathetosis, associated with oculocutaneous telangiectasia and recurrent sinobronchitis in childhood, has recently been described in the American literature. The close similarity of the clinical features observed by Boder and Sedgwick (1957, 1958), Wells and Shy (1957), Biedmond (1957), Centerwall and Miller (1958) and Ford (1960) lea...
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Ataxia-telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder. It is characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency, and an increased risk of malignancy. Although A-T is known to be the most common cause of progressive cerebellar ataxia in childhood, there have been no confir...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 20 2 شماره
صفحات -
تاریخ انتشار 1957