Article
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.
Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Dec 2012
Hammer Monia Benhamed, El Euch-Fayache Ghada, Nehdi Houda, Saidi Dalel, Nasri Amira, Nabli Fatma, Bouhlal Yosr, Maamouri-Hicheri Wieme, Hentati Fayçal, Amouri Rim
Abstract excerpt
Ataxia with oculomotor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the SETX gene. It is a rare monogenic disease characterized by progressive cerebellar ataxia, oculomotor apraxia, axonal sensorimotor neuropathy, and an elevated serum α-fetoprotein level. To date, >100 AOA2 patients have been described and 75 different mutations in the SETX gene have...
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