title: Clinical clues to differentiating inherited and noninherited etiologies of childhood ataxias.
abstract: OBJECTIVE
  To identify clinical features at presentation that differentiate inherited and noninherited etiologies of childhood ataxias.
  
  
  METHODS
  A retrospective chart review analysis was conducted on 167 patients evaluated in neurology outpatient clinics for ataxia or ataxia-related symptoms. The frequency of clinical features, determined a priori, in the 2 groups was compared.
  
  
  RESULTS
  A larger proportion of patients were diagnosed with a nongenetic cause than with a genetic cause (89% [148 patients] vs 11% [19 patients]). The majority of patients in the nongenetic group (56% [83/148]) presented early for medical evaluation, compared with 31% (6/19) in the genetic group. Consanguinity (16% vs 4%) and positive family history (16% vs 2%) were more frequent in the genetic group. Presenting symptoms of abnormal gait (95% vs 57%) and muscle weakness (47% vs 8%), including physical findings of abnormal muscle tone (63% vs 32%), abnormal reflexes (63% vs 16%), clonus (26% vs 9%), dysmetria (32% vs 5%), pes cavus (21% vs 1%), sensory deficits (16% vs 0%), and nonneurologic musculoskeletal abnormalities (58% vs 19%), were more prevalent in the genetic group.
  
  
  CONCLUSIONS
  Certain clinical features can help delineate between inherited and noninherited causes of childhood ataxia and thus guide physicians in the targeted evaluation of patients.
authors.affiliation: Montreal Children's Hospital-McGill University Health Center, Montreal, Quebec, Canada.
authors.forename: Ruba
authors.initials: R
authors.lastname: Benini
authors.forename: Ibtihel M
authors.initials: IM
authors.lastname: Ben Amor
authors.forename: Michael I
authors.initials: MI
authors.lastname: Shevell
mesh_terms: D000293:Adolescent; D001259:Ataxia / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies