title: Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia.
abstract: The CSF findings in hereditary ataxias and allief disorders have hitherto mostly been reported as normal if one excludes Refsum's syndrome. The CSF-protein patterns found on isoelectric focusing and quantitative paper electrophoresis were studied in 12 patients with hereditary ataxias and hereditary spastic paraplegia. Using a recently-developed technique of isoelectric focusing of CSF-proteins in flat beds of polyacrylamide gel, the authors could show abnormal CSF-protein patterns in all but 1 of the present cases. The aberrant CSF-protein patterns found showed differences between the syndromes studied. Two unique patterns with conspicuous fractions in the acid range were observed in patients with Marie-Sanger-Brown's ataxia (mother and daughter) and Holmes' ataxia. A third CSF-protein pattern was found in a sibship with Friedreich's ataxia including a double fraction in the acid region (pI 5.9-6.1) in all 4 subjects and a highly alkaline fraction (HAF) with pI about 9.3, in 3 of them. Similar acid fractions (pI 5.9-6.1) were also detected in 3 of 4 patients with hereditary spastic paraplegia, a brother and sister showing a very similar CSF-protein pattern. Double fractions with pI 5.9-6.1 and/or HAF may also occur in other neurological diseases, mostly, however, associated with other distinctive features of their CSF-protein patterns. A possibility in the future of distinguishing hereditary CNS-diseases by examination of the CSF-protein pattern is suggested.
mesh_terms: D000012:Abetalipoproteinemia / Q000134:cerebrospinal fluid; D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000134:cerebrospinal fluid* / Q000235:genetics; D001260:Ataxia Telangiectasia / Q000134:cerebrospinal fluid; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis* / Q000302:isolation & purification; D002648:Child; D002675:Child, Preschool; D004590:Electrophoresis, Paper; D005260:Female; D005621:Friedreich Ataxia / Q000134:cerebrospinal fluid; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007525:Isoelectric Focusing; D050356:Lipid Metabolism; D008297:Male; D008875:Middle Aged; D010264:Paraplegia / Q000134:cerebrospinal fluid* / Q000235:genetics; D010831:Phytanic Acid / Q000378:metabolism; D012035:Refsum Disease / Q000134:cerebrospinal fluid
chemical_list: D002556:Cerebrospinal Fluid Proteins; D010831:Phytanic Acid