[Abnormal cytological findings in cerebrospinal fluid with normal cell count (author's transl)]. / Abnormes Zellbild bei normaler Zellazhl im Liquor cerebrospinalis.

A qualitative cytological study demonstrated that normal cell count in the cerebrospinal fluid does not exclude abnormal cytological findings. Siderophages were found as a late indicator of haemorrhage into the CSF. In some cases of tumours of the CNS sporadic atypical cells were found without other alterations in CSF findings. Granulocytes or macrophages were found in vascular diseases, in response to trauma, in tumours and after inflammation of the meninges as an indicator of persistent minimal inflammatory activity. Two cases of Heredopathia atactica polyneuritiformis (Refsum's syndrome) showed characteristic vacuolar macrophages in the CSF (described for the first time), in spite of a normal cell count. The findings point to the diagnostic values of qualitative cytological analysis even in cerebrospinal fluid specimens with a normal cell count. The importance of adapting the cytological method for routine laboratory procedure is stressed.

[Clinical and biochemical follow up of Refsum's disease (author's transl)]. / Klinisch-biochemische Verlaufsuntersuchungen bei Heredopathia atactica polyneuritiformis (Morbus Refsum).

Within a family refered here, two sisters are presenting heredopathia atactica polyneuritiformis (Morbus Refsum) with the complete clinical, electromyographical and serological findings (increased phytanic acid level, accumulation of mono- and diphytanyl, triglycerides). In addition, some symptoms of Refsum's disease are clinically apparent in the eight year old daughter of one of the patients, but significant principal characteristics are absent (dissociation of the spinal fluid, retinopathia pigmentosa, increased phytanic acid level). The phytanic acid level in the serum of ten clinically normal blood relations (three of which are also obligatory heterozygotes) is normal. In both patients with manifest illness we found not only the usual spinal fluid changes with highly increased protein levels (gammaglobulin, IgA- and IgG-fraction) but also a remarkably large number of macrophages with vacuoles. Within almost two years of keeping to a strict diet with low phytanic acid and phytol content, both patients showed a distinct clinical improvement in parallel with a decrease of the phytanic acid level. Even a temporary increase of the phytanic acid level in one of the patients did not cause clinical relapse. Regarding the biochemical control of the course of the disease, the phytanic acid containing triglycerides proved to be a highly sensitive parameter.

Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia.

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.