Cerebellar ataxia late onset
Også kjent som: Autosomal recessive cerebellar ataxia due to GBA2 deficiency
Engelsk navn: Autosomal recessive cerebellar ataxia with late-onset spasticity
Engelske synonym: Autosomal recessive cerebellar ataxia due to GBA2 deficiency
A rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.