The wobbly child: an approach to inherited ataxias.
Genetic causes of ataxia are numerous. These disorders often present in the pediatric population, and finding a precise diagnosis can be quite challenging. Recent advances in molecular diagnosis make it difficult for the clinician to determine what investigations to undertake and in which order. This article presents 3 cases of pediatric onset ataxia with a genetic basis that will help to formulate and show a practical approach to this important clinical problem.
Bernard
Genevieve
G
Department of Neurology/Neurosurgery, McGill University, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.
Shevell
Michael
M
D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D033862:Iron-Binding Proteins / Q000235:genetics; D008297:Male; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D000096923:Frataxin
D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D033862:Iron-Binding Proteins; D017346:Protein Serine-Threonine Kinases; D025521:Tumor Suppressor Proteins; D000096923:Frataxin; C576324:ATM protein, human