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

Introduction

Closely resembles ataxia telangiectasia.

Pathology

• cerebral atrophy
• loss of cerebellar Purkinje cells
  • ecotopic localization of Purkinje cells in molecular layer

Genetics

• autosomal recessive inheritance
• mutations in gene for aprataxin

Clinical manifestations

• early onset oculomotor apraxia, cerebellar ataxia, areflexia
• choreoathetosis
• peripheral neuropathy (late)
• no extraneurologic features of ataxia telangiectasia
  • no tendency for frequent infections
• onset tends to be later than ataxia telangiectasia

More general terms

• genetic disease of the central nervous system

Additional terms

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

Database

• OMIM: https://mirror.omim.org/entry/208920