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Ataxia with oculomotor apraxia type 1&2 (AOA 1&2)
Ataxia with oculomotor apraxia type 1 (AOA1)
Disease characteristics:
Ataxia with oculomotor apraxia type 1 (AOA1) is a neurological disorder belonging to the group of autosomal recessively transmitted cerebellar ataxias. AOA1 represents early onset cerebellar ataxia with abnormal movements of the head and eye, late neuropathy, long survival, hypercholesterolemia, hypoalbuminemia, and hyperlipidemia.
Families with the disease have mutations in the APTX gene at 9p13.3, which encodes Aprataxin.
Ataxia with oculomotor apraxia type 2 (AOA2)Disease characteristics:
Ataxia with oculomotor apraxia type 2 (AOA2) is a neurological disorder belonging to the group of autosomal recessively transmitted cerebellar ataxias. AOA2 is characterized by onset between 10-22 years of age, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and elevated serum concentration of alpha-fetoprotein (AFP). Recessive mutations in SETX on chromosome 9q34 have been found in AOA2. Dominant mutations in the same gene occur in a form of juvenile amyotrophic sclerosis (ALS4).
Test: DNA extraction, PCR, DNA sequencing of the entire APTX coding sequence (8 Exons). DNA extraction, PCR, DNA sequencing of of the entire SETX coding sequence (26 exons).
