Progressive ataxia in Swedish children: a re-evaluation study.
The results of follow-up of 76 children with progressive ataxia first reported in 1988 are described with special reference to type of potential underlying metabolic diseases. In 70% of cases the clinical follow-up did not lead to reconsideration of diagnoses. Six of 23 biochemically and morphologically re-examined children got a new and definite diagnosis: 1 myoclonic encephalopathy with ragged red fibres, 2 carbohydrate-deficient glycoprotein syndrome, 1 neuroborreliosis, 1 Hallervorden-Spatz disease and 1 leucodystrophy. Different clinical groups are discussed.
Ylitalo
V
V
Department of Neuropediatrics, Aurora Hospital, Helsinki, Finland.
Hagberg
B A
BA
D000293:Adolescent; D001259:Ataxia / Q000209:etiology* / Q000235:genetics; D001928:Brain Diseases, Metabolic / Q000209:etiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000209:etiology* / Q000235:genetics