acid-phosphatase and Neuromuscular-Diseases

The isozyme patterns of six different enzymes and the polypeptide profiles of soluble proteins have been examined in muscle biopsy specimens from 74 patients with a wide variety of neuromuscular disorders. About half of the samples showed unusual features in at least one, and often several, of the enzymes and proteins tested. The extent of the biochemical abnormalities was roughly proportional to the severity of the disorders. In all cases the unusual isozymes and polypeptide profiles seemed to reflect a reversion to the fetal pattern of gene expression. However, this change appeared to occur in extant muscle and was not dependent on the appearance of new muscle fibres. Among the enzymes, phosphoglycerate mutase followed by creatine kinase appeared to be the most sensitive index of muscle disorder. The extent of the change in the muscle creatine kinase isozyme pattern was not correlated with the levels of serum creatine kinase activity.

Topics: Acid Phosphatase; Adolescent; Adult; Aged; Child; Child, Preschool; Creatine Kinase; Electrophoresis, Polyacrylamide Gel; Female; Fructose-Bisphosphate Aldolase; Gene Expression Regulation; Humans; Isoenzymes; L-Lactate Dehydrogenase; Male; Middle Aged; Muscle Proteins; Muscles; Neuromuscular Diseases; Peptides; Phosphoglycerate Mutase; Phosphopyruvate Hydratase

Modern morphological diagnostic methods for neuromuscular diseases are based on enzyme histological and electron microscopic techniques. By enzyme histochemical differentiation of fiber types, early morphological changes such as Type I atrophy in myotonic dystrophy, or particular disease forms like Type II atrophy or congenital fiber type disproportion and other congenital myopathies associated with a Type I atrophy may be detected. The ultrastructural characteristics and the fine structure of autofluorescent lipopigments rich in phosphatases in the skeletal muscle fiber permit appropriate diagnosis of the individual types of congenital myopathy or neuronal ceroid lipofuscinosis.

Topics: Acid Phosphatase; Adenosine Triphosphatases; Adolescent; Biopsy; Child; Child, Preschool; Female; Humans; Infant; Male; Middle Aged; Muscles; Muscular Atrophy; Muscular Dystrophies; Neuromuscular Diseases; Specimen Handling

A neurogenic lesion has been described in mother and son. In the son there was a prevalence of denervation changes whereas reinervation ones prevailed in the mother. In both, "central cores" were present in aggregations of type-1 fibres. In the authors' opinion the findings represent a neurogenic lesion (also verified clinically and electromyographically), less advanced in the son and more advanced in the mother, ultimately stabilizing to yield a pattern resembling that of the "central core disease".

Topics: Acid Phosphatase; Adenosine Triphosphatases; Adult; Female; Humans; Male; Neuromuscular Diseases; Syndrome

Selected lysosomal hydrolases have been investigated in the trigeminal ganglion of mice afflicted with an hereditary sensory neuropathy (dystonia musculorum). This was done using direct enzyme histochemistry. Correlative electron microscopy was also used to further elucidate perikaryal changes. The earlies observed lesion in the trigeminal ganglion of afflicted mice was numerous axon swellings containing intense lysosomal hydrolase activity. Subsequent to this observation, numerous neurones showed central chromatolysis, eccentric nucleus and increased lysosomal hydrolase activity. As various neurones throughout the ganglion underwent the classical chromatolytic reaction, the Golgi apparatus moved to a juxtanuclear location, and there was a focal juxtanuclear accumulation of lysosomes. During the later stages of the disease, a striking decrease in neuronal hydrolase activity characteristic of neuronal atrophy was observed. These results are consistent with earlier suggestions that loss of sensation in the disease could be due to an interruption of axonal transport in primary sensory of neurones.

Topics: Acid Phosphatase; Animals; Arylsulfatases; Axonal Transport; Axons; Esterases; Golgi Apparatus; Histocytochemistry; Hydrolases; Lysosomes; Mice; Mice, Inbred C57BL; Muscular Diseases; Neuromuscular Diseases; Neurons; Schwann Cells; Trigeminal Ganglion; Trigeminal Nerve

In two new cases of centronuclear myopathy, histochemical findings included failure to differentiate fiber type with oxidative enzymes, the presence of core glycogenosis, and core acid phosphatase activity. Fluorescence microscopy demonstrated autofluorescent lipochrome in fiber centers and nonspecific fiber injury in some immunofluorescent preparations. Electron microscopical findings included the observation of unusually small myofibrils arrayed between central nuclei.

Topics: Acid Phosphatase; Adenosine Triphosphatases; Adolescent; Adult; Cell Nucleus; Cholinesterases; Complement System Proteins; Electron Transport Complex IV; Female; Fluorescent Antibody Technique; Fructose-Bisphosphate Aldolase; Glycogen Storage Disease; Glycogen Synthase; Histocytochemistry; Humans; Isocitrate Dehydrogenase; L-Lactate Dehydrogenase; Male; Microscopy, Electron; Microscopy, Fluorescence; Mitochondria, Muscle; Myofibrils; Neuromuscular Diseases; Phosphorylases; Succinate Dehydrogenase

Topics: Acid Phosphatase; Adenosine Triphosphatases; Adult; Blepharoptosis; Deglutition Disorders; Facial Paralysis; Female; Glycogen; Hearing Disorders; Humans; Lipid Metabolism; Male; Microscopy, Electron; Mitochondria, Muscle; Muscles; Myofibrils; NADH, NADPH Oxidoreductases; Neuromuscular Diseases; Ophthalmoplegia; Pedigree; Speech Disorders; Syndrome

Topics: Acid Phosphatase; Adenosine Triphosphatases; Adult; Alkaline Phosphatase; Amyotrophic Lateral Sclerosis; Biopsy; Child, Preschool; Dihydrolipoamide Dehydrogenase; Esterases; Glucosyltransferases; Glucuronidase; Glycerolphosphate Dehydrogenase; Histocytochemistry; Humans; L-Lactate Dehydrogenase; Muscle Denervation; Muscles; Muscular Atrophy; Muscular Dystrophies; Myositis; Myotonic Dystrophy; NAD; Neuromuscular Diseases; Succinate Dehydrogenase