Search results for " Metachromatic"
showing 5 items of 5 documents
A morphometric study on sural nerves in metachromatic leucodystrophy.
1987
This study reexamines peripheral neuropathy in infantile, juvenile and adult metachromatic leuco-dystrophy. A computer-assisted method was used which gives more detailed information on abnormal fibre structure from scatter diagrams of the g ratio (axon diameter/fibre diameter). The data show marked and statistically significant reductions in sheath thickness, particularly for the thick myelinated fibres, and most severe in the juvenile and adult forms. This is interpreted as evidence of remodelling of virtually the entire fibre population, without a clear-cut selectivity for either thin or thick fibres.
Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy.
1975
In a family with juvenile metachromatic leukodystrophy (sulfatide lipidosis) 2 patients showed residual arysulfatase A activities of 5--6%. The patients' healthy father was characterized biochemically by a 39% normal activity of leukocyte plus plasma arylsulfatase A. The father was further characterized by a high sulfatide excretion (0.2--0.5 mg/I urine) and, paradoxically, by a normal sulfatide degrading enzyme activity in vitro. This special carrier is suspected to be heterozygous for a) arylsulfatase A deficiency and b) arylsulfatase A (sulfatidase) lability. This presumed additional genetic defect could be the cause of the sulfatide excretion which, in turn, would be a sign of the precl…
Early auditory evoked potentials: developmental aspects and validity in neuropaediatric and audiologic disorders.
1984
Auditory evoked potentials and in this context especially five waves in the first 10 ms (early auditory evoked potentials = EAEP) are a diagnostic aid in topodiagnosis of posterior fossa diseases. This is due to waves I to V which arise along the acoustic nerve and in brain stem structures such as medulla, pons and mid-brain. Besides an indication about the site of a lesion in the posterior fossa, wave V allows an objective threshold determination. The present results were gained in normal children aged 1-3 years and in children with neuropaediatric and audiologic disorders.
Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy
1974
Die detaillierte nosographische Analyse eines 25jahrigen Patienten mit adulter metachromatischer Leukodystrophie wird mitgeteilt. Der Patient zeigt langsam progrediente psychische, charakterliche, intellektuelle, zentralund periphernervose Veranderungen. — Die biochemische Diagnostik ergab einen weitgehenden Arylsulfatase A-Mangel in Urin und Leukocyten sowie eine erhohte Sulfatidausscheidung im Urin (2–7 mg je Liter). — Durch histochemische Untersuchungen einer Nervus suralis-Biopsie wurde metachromatisches Speichermaterial nachgewiesen.
Ultrastructural study of the retina in late infantile metachromatic leukodystrophy.
1992
The autopsy of a 2-year-old girl revealed a clinically unrecognized metachromatic leukodystrophy (MLD) due to an aryl-sulfatase A deficiency, characteristically affecting the central and peripheral nervous system by demyelination and by accumulation of metachromatic material. The retina though reported clinically as normal, showed the same demyelinating process in the optic nerve including the papilla but an additional intraneuronal storage of MLD-typical lysosomal residual bodies in ganglion cell perikarya of the retina. Cells of the bipolar and photoreceptor layers as well as pigment epithelial cells were not affected by MLD-specific lysosomal storage. Thus, sulfatides seem to play a part…