A tentative classification of recessively inherited ataxias.
We present a working classification of recessively inherited ataxic syndromes based on the use of simple tools available to every clinician: a good history (particularly pinpointing the age of onset) and a good neurological examination (simplified to the verification of the presence of ataxia, deep tendon reflexes in the knee, optic nerve, retinal and/or 8th nerve signs). In the three groups of disorders (non progressive, intermittent or progressive) patients can be hyper/normo reflexic, or they can be hypo/areflexic. Six principal types of progressive ataxic disorders are further delineated by the age of onset. Sub-types depend on the presence of absence of eye and ear signs, whereas eponymic or regional denominations are used only for simplicity while awaiting exact delineation of the biochemical defects.
D001259:Ataxia / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D006801:Humans; D009460:Neurologic Examination