OBJECTIVE: To identify clinical features at presentation that differentiate inherited and noninherited etiologies of childhood ataxias. STUDY DESIGN: 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. CONCLUSION: Certain clinical features can help delineate between inherited and noninherited causes of childhood ataxia and thus guide physicians in the targeted evaluation of patients.
OBJECTIVE: To identify clinical features at presentation that differentiate inherited and noninherited etiologies of childhood ataxias. STUDY DESIGN: 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. CONCLUSION: 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: Ryan W Lee; Andrea Poretti; Julie S Cohen; Eric Levey; Hilary Gwynn; Michael V Johnston; Alexander H Hoon; Ali Fatemi Journal: Neuromolecular Med Date: 2014-10-04 Impact factor: 3.843
Authors: Kathie J Ngo; Jessica E Rexach; Hane Lee; Lauren E Petty; Susan Perlman; Juliana M Valera; Joshua L Deignan; Yuanming Mao; Mamdouh Aker; Jennifer E Posey; Shalini N Jhangiani; Zeynep H Coban-Akdemir; Eric Boerwinkle; Donna Muzny; Alexandra B Nelson; Sharon Hassin-Baer; Gemma Poke; Katherine Neas; Michael D Geschwind; Wayne W Grody; Richard Gibbs; Daniel H Geschwind; James R Lupski; Jennifer E Below; Stanley F Nelson; Brent L Fogel Journal: Hum Mutat Date: 2019-11-25 Impact factor: 4.700