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An unusual case of progressive cerebellar ataxia.
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J Neurol Neurosurg Psychiatry 2013 Nov; 84(11):e2
Authors: Suresh Kumar Chhetri, Tahir Majeed, Jeremy Dick, Amr Taylor, John Ealing
Royal Preston Hospital; Salford Royal Hospital; University of Birmingham.
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder due to mutations in the senataxin gene resulting in progressive cerebellar ataxia, peripheral neuropathy and occasional oculomotor apraxia.(1) Approximately 96% of the patents have raised serum alpha fetoprotein (AFP) levels.(1) We present a patient presenting with ataxia and choreoathetosis, secondary to AOA2, whose serum AFP level was at the upper limit of normal range.
PMID: 24108907 [PubMed - as supplied by publisher]