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Biomedical subjects

H Pilz

Publications and source records attributed to H Pilz.

At least 37 records · Page 2Linked to original sources
PubMed1977

Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy.

In a 13-year-old neurologically healthy boy from a family with adult-onset of metachromatic leukodystrophy (MLD) showing arylsulfatase A-deficiency in the adult, sural nerve biopsy probably was performed 2-3 decades before clinical manifestation of the disease could be expected. Ultrastructurally 4 basic types of inclusion bodies in Schwann cells could be demonstrated (pleo-morphic "zebra body"-like inclusions, double-lamellated inclusions, "tuff-stone"-like inclusions, granular osmiophilic inclusions). Additionally, endoplasmatic reticulum, mitochondria and lysosomes showed marked alterations. Advanced damage of myelin was only rarely seen, but initial segmental demyelination was a common finding. These early pathological changes in chronic MLD are thought to represent a subcellular metabolic insufficiency of Schwann cells in this disease.

Adolescent↗
PubMed1977

Adult metachromatic leukodystrophy. I. Clinical manifestation in a female aged 44 years, previously diagnosed in the preclinical state.

In a 5-year follow-up of a case of adult metachromatic leukodystrophy, already diagnosed in the preclinical stage, the development of the symptoms of this disease could be studied in detail: initially, lack of drive, emotional lability and depressive mood. At the same time, pain in the arms and beginning gait disturbance. Later, impairment of memory and concentration, disorientation, inadequate behavior and progression of gait disturbance. Finally spastic atactic gait with small steps and dyspractic components, coordination disturbances with writing dysfunction, fast dysarthric speech, hyperkinetic activity, compulsory emotional outbursts and progressive dementia. Only minor neurological signs such as reflex abnormalities. In the EEG, slight slowing of frequencies compared to earlier tracings. Increasing diminution of nerve conduction velocity in the lower limbs. Only minor increase of CSF protein (51 mg%). In spite of normal vision, evoked visual potentials abnormal, response of optical and electrical blink reflexes delayed. Imperfect filling of gallbladder. No significant quantitative changes of the biochemical parameters compared with the findings made 5 years earlier (excretion of urinary sulfatides, diminished activity of arylfulfatase A in urine and leukocytes).

Adult↗
PubMed1977

Adult metachromatic leukodystrophy. II. Ultrastructural findings in peripheral nerve and skeletal muscle.

Sural nerve biopsy in a 44-year-old woman with adult metachromatic leukodystrophy (MLD) confirmed by deficient arylsulfatase-A activity, showed a reduction in the number of large and small myelinated axons, and sparse metachromatic material. Ultrastructurally, the latter consisted of various types of residual bodies including the tufaceous and prismatic forms typical of MLD. In the striated muscle, large amounts of regular lipofuscin but no MLD-characteristic inclusions were encountered. Inclusion-bearing mitochondria in the muscle appeared to be an incidental finding.

Adult↗
PubMed1976

The protracted form of juvenile neuronal ceroid-lipofuscinosis.

Clinical and ultrastructural findings consisting of curvilinear and fingerprint residual bodies, in a protracted juvenile form of NCL are reported from a woman who died at the age of 35 years. Homochrony and homotypy of her brother's illness emphasize intrafamilial similarities within subgroups of lysosomal disorders.

Adult↗
PubMed1976

Ultrastructural investigations of peripheral nerves in neuronal ceroid-lipofuscinoses (NCL).

Specimens of brachial plexus, sural nerve and two cranial nerves of one patient with Jansky-Bielschowsky type and 3 patients with the Spielmeyer-Sjögren type of NCL were studied by electron microscopy. Significant light microscopic changes were absent in all specimens. Ultrastructurally, curvilinear and/or fingerprint inclusions were present in each case, located chiefly in Schwann cells. These diagnostic findings were, however, overshadowed by masses of lamellar pi-granule-like cytosomes, usually not mixed with curvilinear or finger-print profiles in the juvenile cases and only rarely associated with curvilinear profiles in the late infantile case. Since secondary changes of axons and myelin sheaths were mild, these lamellar cytosomes might indicate chronic damage to Schwann cells, perhaps by "wear and tear" as seen in aging as well as NCL. On account of the abundance of pi-granules in NCL, peripheral nerve biopsy appears less suitable for confirming this diagnosis than biopsy of skin, striated muscle and rectal tissue.

Humans↗
PubMed1976

The fatty acid composition of major glycosphingolipids (cerebrosides and sulfatides) in human cerebral white matter measured by a simple micromethod.

A micromethod for the investigation of the fatty acid composition of myelin glycosphingolipids (cerebrosides and sulfatides) suitable for general application in the investigation of neurological disorders, especially demyelinating diseases, is presented. Using the lipids extracted from 1 g of material these are freed of phospholipids by Florisil column chromatography and separated by thin-layer chromatography into 2 cerebroside and sulfatide fractions which are analyzed individually. The results obtained from the white matter of 13 normal adult brains are distributed within a narrow range which is most pronounced for the group of long chain fatty acids. Our results also agree with those quoted from literature.

Adolescent↗
PubMed1976

[Dyscephalia-cataracta congenita-hypotrichosis (DCH) syndrome (Ullrich-Fremerey-Dohna, Hallermann-Streiff, Francois). Report of a case showing extrapyramidal hyperkinesia and dementia (author's transl)].

In a 43-year-old man dyscephalia, cataracta congenita, and hypotrichosis were the outstanding features. These signs were first described in 1953 by Ullrich and Fremerey-Dohna as a clinical entity. Since 1958 the DCH syndrome was published under the synonyms of "Francois syndrome" and of "Hallermann-Streiff syndrome". However, as these authors did not add any essential details relevant for the classification of the syndrome we prefer to retain the term "Ullrich-Fremerey-Dohna syndrome". In our case in addition to the above mentioned and well known manifestations, extrapyramidal hyperkinesia of the choreoanthetotic type and servere mental deficiency accompanied by mild cerebral atrophy (revealed by pneumencephalography) were found.

Adult↗
PubMed1976

Human leukocyte peroxidase: activity of a soluble and membrane-bound enzyme form in normal persons and patients with neuronal ceroid-lipofuscinosis.

Human leukocytes contain a peroxidase fraction soluble in 0.1 M phosphate buffer and an insoluble peroxidase component with 10--15 times higher specific activity which can be extracted by 0.1 M phosphate buffer + 0.2% Triton X-100 + 0.2% sodium taurocholate and sonication. Both enzyme components have been estimated spectrophotometrically with the substrate hydrogen peroxide (final concentration 1 mM) and the hydrogen donor p-phenylenediamine (final concentration 28-55 mM) within the first 60 sec. The pH-optimum of the soluble and membrane-bound leukocyte peroxidase is at pH 7.0 with a second smaller peak at pH 5.5. Using 0.2 M boric acid/0.05 M sodium borate buffer (pH 7.6) instead of phosphate buffer a 40%-50% increase of enzyme activity can be achieved. In two patients with the juvenile form of neuronal ceroid-lipofuscinosis (type Spielmeyer-Vogt) the activity of soluble leukocyte peroxidase was considerably reduced, in one patient with the late infantile form (type Jansky-Bielschowsky) the activity was just below the normal range, and in two patients with the adult form (type Kuf) activity was normal. In all patients the activity of membrane-bound leukocyte peroxidase was not significantly altered. Only one of four heterozygotes for the juvenile type had deficient values of the soluble enzyme. The variability of the peroxidase findings in patients and carriers with neuronal ceroid-lipofuscinosis make it uncertain whether this represents the primary enzymic defect.

Adolescent↗
PubMed1976

Human saliva peroxidase: microanalytical isoelectric fractionation and properties in normal persons and in cases with neuronal ceroid-lipofuscinosis.

Human saliva contains a high peroxidase activity that can be estimated spectrophotometrically with the hydrogen donor p-phenylenediamine and the substrate hydrogen peroxide from 20 mul of material. The pH optimum of the enzyme with citrate-phosphate buffer is 5.5. After microanalytical isoelectric fractionation 3 main isoenzyme components at pI 8.6, 6.5 and 4.3, and a number of isoenzyme subfractions at pI 9.5, 7.3 and 3.8 are detectable. In 3 patients with the juvenile form of neuronal ceroid-lipofuscinosis (type Spielmeyer-Vogt), in which a deficiency of leukocyte peroxidase had been reported by other authors, both the total activity of saliva peroxidase and the activity of individual isoenzymes were found to be within normal limits. These findings are not consistent with a generalized peroxidase deficiency in this disease.

Ceroid↗
PubMed1976

Isoelectric enzyme patterns of leukocyte peroxidase in normal controls and patients with neuronal ceroid-lipofuscinoses.

Using macro- and microanalytical isoelectric focussing techniques for separation of the soluble leukocytic peroxidase (hydrogen donor: p-phenylenediamine) we found 4 main isoenzyme components with pI at 9.6 (9.0), 7.6 (7.5), 6.2 (6.2) and 4.2 (4.7), which exhibited additional heterogeneities. The isoenzymes of the membrane-bound peroxidase displayed a similar pattern. The isoelectric subfractions of peroxidase in controls and patients with late-infantile (Jansky-Bielschowsky), juvenile (Spielmeyer-Sjögren) and adult (Kufs) types of neuronal ceroid-lipofuscinosis did not reveal any significant differences. Based on these findings, a deficiency of an isoenzyme component cannot be held responsible for producing neuronal ceroid-lipofuscinoses, neither in patients with normal nor in patients with reduced total activity of leukocyte peroxidase.

Adolescent↗
PubMed1975

Significance of muscle biopsies in neuronal ceroid-lipofuscinoses.

Muscle specimens obtained at necropsy from four cases of neuronal ceroid-lipofuscinosis (NCL), three of the juvenile and one of the late infantile type, and a muscle biopsy from a fifth patient with the juvenile type of NCL, all showed curvilinear bodies typical of NCL within the muscle fibres. The pigments were autofluorescent. It appears that skeletal muscle is a reliable tissue source for the diagnosis of these disorders by biopsy.

Adolescent↗
PubMed1975

[Differential diagnosis of congenital lipidoses by lipid analyses of body fluids, biopsy and autopsy tissue].

1. Presentation of the commomly used procedures for the extraction and separation of total lipids, glycolipids and phosholipids from fresh and formalin-fixed organs tissues (brain, liver, spleen, kidney) as well as from serum, CSF and urine. II. Description of the qualitative and quantitative analysis of individual lipid fractions (glycolipids, gangliosides, phospholipids, neutral lipids) by thin-layer chromatograhy and photodensitometry. III. Results of investigations performed on biopsy material, autopsy material, serum and urine in the following diseases: 1. Infantile, juvenile and adult Gaucher's disease: accumulation of glucocerebroside in liver and spleen. 2. Infantile and adult Niemann-Pick disease: accumulation of sphingomyelin in liver, spleen, kidney and lung. 3. Fabry's disease: increased urinary excretion of trihexosyl-ceramide and dihexosyl-ceramide. 4. Infantile and adult metachromatic leukodystrophy: accumulation of sulfatides in the central and peripheral nervous system and kidney, increased urinary excretion of sulfatides. 5. Austin's variant of metachromatic leukodystrophy: besides an increase of sulfatides in the white matter of brain accumulation of glycolipids in the cerebral cortex. 6. Tay-Sachs disease (GM2-gangliosidosis): cerebral accumulation of GM2-ganglioside and trihexosylceramide (enzyme variant B), additional visceral accumulation (liver, spleen, kidney) of tetrahexosyl-ceramide = globoside (enzyme variant 0). 7. Infantile generalized GM1-gangliosidosis: cerebral (and visceral) accumulation of GM1-ganglioside and tetrahexosyl-ceramide. 8. Late infantile GM1-gangliosidosis: Cerebral accumulation of GM1-ganlioside and tetrahexosylceramide. 9. GM3-gangliosidosis (lactosyl-ceramidosis): neuronal accumulation of lactosyl-ceramide, GM2-ganglioside and GM3-ganglioside. 10. Refsum's disease: demonstration of phytanic acid esters of cholesterol in serum.

Autopsy↗