Criccuolo C. et al. Ataxia with oculomotor apraxia type 2: A clinical, pathologic and genetic study. Neurology 2006; 66: 1207-1210
AOA2 as it is known in short was described in Japanese and Pakistani patients aged 10-22 with elevated alphafetoprotein (AFP), peripheral neuropathy and cerebellar atrophy on MRI. Subtle cognitive changes (not MR) and EPS may be noted. Chromosomal changes are found in SETX (recessive genes) in chromosome 9q34. The same gene, when dominant mutations occur, causes a form of juvenile ALS (ALS4). SETX encodes senataxin.
This study of four families from Italy has patients screened with symptoms, but defined based on genetic screening. Age at onset was 20.3 +/- 8 years, with gait ataxia the presenting symptom in all cases. Time to wheelchair was 15 +/- 7 years with all patients nonambulatory eventually. Cerebellar features, nystagmus, eye-head dissociation, vibratory sense examination, position sense abnormality, were common. EPS gradually disappeared. Raised AFP, sensory/motor axonal neuropathy, and cerebellar atrophy were characteristic. Sural nerve biopsies showed loss of large myelinated and small fibers both. Autopsy showed general brain and cerebellar atrophy. Atheromatous disease of large cerebral vessels, loss of cerebellar Purkinje cells, demyelination of gracilis and cuneatus funiculi, and degeneration of Clarke's columns with gliosis were seen in the spinal cord.
The discussion reviews the division of the OMA's based on DNA repair defects, They are divided into single and double stranded disorders.
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Here is a link to more information about the genetics of Ataxia with Oculomotor Apraxia that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Ataxia_with_Oculomotor_Apraxia/701. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA
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