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ataxia-oculomotor apraxia syndrome; ataxia-telangiectasia-like syndrome; cerebellar ataxia early-onset with apraxia & hypoalbuminemia (EOCA-HA, AOA1)

Closely resembles ataxia telangiectasia. Pathology: 1) cerebral atrophy 2) loss of cerebellar Purkinje cells - ecotopic localization of Purkinje cells in molecular layer Genetics: 1) autosomal recessive inheritance 2) mutations in gene for aprataxin Clinical manifestations: 1) early onset oculomotor apraxia, cerebellar ataxia, areflexia 2) choreoathetosis 3) peripheral neuropathy (late) 4) no extraneurologic features of ataxia telangiectasia - no tendency for frequent infections 5) onset tends to be later than ataxia telangiectasia

Related

aprataxin; forkhead-associated domain histidine-triad like protein; FHA-HIT (APTX, AXA1) ataxia telangiectasia; Louis-Bar syndrome

General

genetic disease of the central nervous system

Database Correlations

OMIM 208920

References

  1. OMIM :accession 208920
  2. UniProt :accession Q7Z2E3