Brassinosteroids Affect the Symbiosis Between the AM Fungus and Solanaceous Host Plants.

Together with several proteins involved in brassinosteroid (BR) signaling and synthesis, the membrane steroid binding protein 1 (MSBP1) was identified within the interactome of the sucrose transporter of tomato (SlSUT2). We asked whether MSBP1 is also involved in BR signaling as assumed for the AtMSBP1 protein from Arabidopsis and whether it impacts root colonization with arbuscular mycorrhizal (AM) fungi in a similar way as shown previously for SlSUT2. In addition, we asked whether brassinosteroids affect efficiency of root colonization by AM fungi.

Canavan disease: neuromorphological and biochemical analysis of a brain biopsy specimen.

In this study we present a patient with Canavan disease or Van Bogaert and Bertrand type of spongiform leukodystrophy, proven by brain biopsy. We performed morphological studies and biochemical assays on fresh homogenates of the grey and white matter. Quantitative neuromorphological analysis of the cortex showed normal values except for poor dendritic arborization of the inner layers.

Morphological and biochemical analysis of a brain biopsy in a case of idiopathic Lennox-Gastaut syndrome.

The results of a qualitative and quantitative neuromorphological and a biochemical analysis of a brain biopsy from a 7-year-old boy with an idiopathic type of Lennox-Gastaut syndrome (LGS) are reported. A disturbance in cerebral energy metabolism as expressed by the pyruvate pathway could be ruled out. Degenerative or ischemic lesions were not found.

Anomalies of the cerebral cortex in a case of epilepsia partialis continua.

Morphological and biochemical findings are described from the brain biopsy of an 11-year-old girl with intractable type II epilepsia partialis continua. Computerized tomography scan showed severe progressive central and cortical atrophy, mainly of the right hemisphere. Brain biopsy revealed microangiopathy of the cortex-penetrating arteries, patchy necrosis of the cortex, and small loose infiltrates of lymphocytic cells.

Lafora disease: a quantitative morphological and biochemical study of the cerebral cortex.

Morphological and biochemical studies were performed on a brain biopsy from a patient with typical Lafora disease. Qualitative morphological investigation of the cortex showed that the Lafora bodies were most abundant in layers III and V of the cerebral cortex. They were exclusively located in the neurons and their processes.

A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy.

Three patients from a large pedigree are described who had autosomal dominant spinal muscular atrophy that became manifest between the end of the fourth and the sixth decade. The disease progressed rapidly without evidence of corticospinal tract dysfunction, and within 3 years the patients died from respiratory failure.

Lafora's disease. Comparison of inclusion bodies in skin and in brain.

A patient had the clinical and neuropathologic signs of Lafora's disease. Skin biopsy specimens from the midcalf area confirmed earlier findings by showing numerous periodic acid-Schiff-positive inclusion bodies in eccrine sweat gland duct cells. In our patient, however, inclusion bodies were more abundantly present in the apocrine sweat gland duct cells of the axilla skin.

Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy.

We will present 8 children with progressive infantile or juvenile poliodystrophy (Alpers' disease), associated with a defect in pyruvate metabolism. Laboratory studies showed elevated levels of lactate in CSF and, in 4 children, elevated levels in serum. Histopathologic studies revealed lipid storage in liver and/or muscle tissue, sometimes myopathy with abnormal mitochondria and slight axonal degeneration in the peripheral nerve.

Neuroaxonal pathology of central and peripheral nervous systems in cerebrotendinous xanthomatosis (CTX).

We studied three siblings and one unrelated patient with cerebrotendinous xanthomatosis (CTX). Of two unrelated patients, we examined biopsies of sural nerve, soleus muscle, and achilles tendon. We also performed neurophysiologic investigations.

A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency.

A boy presented suffering from generalised weakness, exercise intolerance and lactic acidosis. The weakness became evident at 2 years. A cerebral CT-scan showed cerebellar atrophy and central and peripheral atrophy of both hemispheres.

Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients.

We present two unrelated patients, a boy and a girl, with a progressive neurologic disorder, characterized by psychomotor retardation, seizures and paresis, the illness being exacerbated during stressful periods. Lactate levels in serum and cerebrospinal fluid were elevated in both patients. Histopathologic studies of muscle tissue revealed mitochondrial abnormalities in the boy; in the girl, slight neuronal degeneration was observed.

Kearns syndrome: a heterogeneous group of disorders with CPEO, or a nosological entity?

In connection with 4 new cases of Kearns syndrome (multisystem form of mitochondrial CPEO), the condition was found to be present in slight to oligosymptomatic form in all 4 families. The marker symptom in subclinical patients was nearly always ptosis (sometimes very slight) and occasionally diabetes. In the literature other endocrine disorders, retinal anomalies, deafness, growth disturbances, etc.

Kearns syndrome or Kearns disease. Further evidence of a genuine entity in a case with uncommon features.

A 20-year-old man with the characteristic findings of infantile onset Kearns syndrome is described. Morphological and biochemical investigations proved a mitochondrial disease which we believe to be the cause of the symptoms in various organs. We assume an autosomal-dominant inheritance, the marker sign of which is blepharoptosis in several family members.

Pyruvate dehydrogenase deficiency restricted to brain.

We studied a child with a rapidly progressive neurologic disorder, with psychomotor retardation, hypotonia, seizures, and respiratory disturbances. Laboratory studied showed elevated levels of lactate and pyruvate in cerebrospinal fluid (CSF), without notable elevated levels in serum. In liver, muscle, leukocytes, and cultured fibroblasts we found no abnormality in pyruvate oxidation; biochemical studies of a brain biopsy showed an isolated deficiency of pyruvate dehydrogenase complex in brain tissue with the morphologic picture of progressive poliodystrophy with hypomyelination.

Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins.

Two maternal cousins are described with the connatal form of Pelizaeus-Merzbacher Disease (PMD) and congenital stridor. Study of brain biopsy material confirms the diagnosis of PMD. The neuropathological findings are suggestive for the transitional form of this disease.

Congenital fibre type disproportion.

Four children with congenital fibre type disproportion were described. It was shown that their type 1 fibres were at least 12% smaller than the type 11 fibres. There was no increase in the terminal innervation ratio (TIR), but a decreased number of terminal knobs was observed in the biopsy of one child.

Successful carnitine treatment in a non-carnitine-deficient lipid storage myopathy.

An 18-month-old boy presented with general hypotonia, decreased muscle strength, retarded motor development and stunted growth. The excretion of dicarboxylic acids was enhanced. EMG was normal.

Muscle phosphorylase deficiency in childhood.

Myophosphorylase deficiency (McArdle's syndrome) is an uncommon condition characterized by exercise intolerance, muscle cramps and myoglobinuria. The present report describes the clinical, histochemical, electronmicroscopic and biochemical findings in a 12-year-old boy with myophosphorylase deficiency. The diagnosis should have been suspected when the boy was 6 years old.

Congenital muscular dystrophy and cerebral dysgenesis in a Dutch family.

A Dutch sibship is described consisting of a girl and a boy affected by the same disease. Both suffered from hydrocephalus and severe generalized weakness with death at 2 days and 4 months respectively. Full autopsy was done on the boy and this revealed a lissencephalic, partly polymicrogyric, neocortex, a bridge of grey matter linking the cerebral hemispheres before and over the lateral ventricles, neocortical dysplasia with subcortical neuronal heterotopic masses, generalized white matter gliosis, also involving the long fibre tracts and generalized vascular proliferation.

Recurrent exertional rhabdomyolysis and stunted growth.

A boy with recurrent exertional rhabdomyolysis and stunted growth is described. Fetal movements were few and the boy was small for gestational age. He always experienced easy fatigability, and he noted bouts of pigmenturia associated with episodes of considerable malaise.

Chronic mild diarrhoea, stunted growth and neuromuscular abnormalities.

This report describes a 3 year-old girl with signs of ventricular hypertrophy, short stature, and persistent diarrhoea (without steatorrhoea or creatorrhoea) which was resistant to therapy. There was no clinical evidence of myopathy but a myopathic pattern was found on electromyography. Biochemical studies revealed no abnormalities.

Oculocutaneous albinism associated with motor neuron disease.

The patient described is a 14-year-old girl who suffered from an oculocutaneous albinism. The developmental milestones were reached with some delay. Gradually she experienced fatiques, and wasting of the pelvic girdle muscles and weakness appeared.