[Pregnancy and delivery in progressive neuromuscular atrophy].
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Atrophy↗
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Results for “PROGRESSIVE MUSCULAR ATROPHY”
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Progressive dysphasic dementia with localized cerebral atrophy: report of an autopsy.
A 64-year-old Japanese woman showed an initially aphasic disturbance followed by complete mutism, progressive dementia, parkinsonism and muscular atrophy. Autopsy revealed localized cortical atrophy confined to the pars triangularis, pars opercularis of the inferior frontal gyrus, supramarginal and angular gyri of the inferior parietal lobe, precuneus and posterior half of the middle and inferior temporal gyrus predominantly on the left hemisphere. The right cerebellar hemisphere showed crossed cerebellar atrophy with shrinkage of the right middle cerebellar peduncle. In the atrophied cerebral areas there were diffuse outfall of neuronal cells in all cortical layers and remaining neurons generally showed simple atrophy, and there were a few swollen neurons. Gliosis of the subcortical white matter was confined to the affected gyri and GFAP positive astrocytes were observed in the 1st, 2nd, 5th and 6th layers of the cortex. In addition, the degenerative changes of the substantia nigra, gliosis of the amygdaloid complex and inferior olivary nucleus were bilaterally observed. The distribution and characteristics of the cortical and white matter degeneration are different from those of Pick's disease, and it is likely that this case belongs to a group of so-called degenerative dysphasic dementias.
Aphasia↗
Hereditary spinal muscular atrophy in Brittany Spaniels: clinical manifestations.
A progressive neurologic disease was identified in a family of closely related Britanny Spaniel dogs. The disease developed in dogs less than 1 year old and characteristically resulted in paraspinal and proximal pelvic limb muscular atrophy. Neurologic examination, electrodiagnostic testing, and histologic studies indicated that the disease results from motor horn cell degeneration. A colony of affected dogs was established, and breeding studies incriminated an inherited basis for the disease.
Animals↗
Type III Machado-Joseph disease in a Japanese family: a clinicopathological study with special reference to the peripheral nervous system.
The clinical and pathological findings in a 58-year-old Japanese man suffering from type III Machado-Joseph disease are reported. The patient became affected at the age of 50 years and presented cerebellar ataxia, progressive external ophthalmoplegia and muscular atrophy, although extrapyramidal signs were never detected throughout the whole course of his disease. His mother, sister and son presented progressive ataxia in the third or fourth decade. The mode of inheritance is considered to be autosomal dominant. Pathological examination revealed severe involvement of the dentato-rubral, ponto-cerebellar and subthalamopallidal systems, spinocerebellar tracts and Clarke's column, cranial motor nuclei including the oculomotor systems and anterior horn cells. The involvement of the substantia nigra was relatively mild, and the nerve cells in the inferior olivary nucleus were well preserved. The distal portion of peripheral nerves was severely damaged. Although the striking feature of Machado-Joseph disease is a considerable variability in the individual clinical expression, there have not been many autopsied cases of this disease and efforts to clarify the clinico-pathological correlation in each phenotype have scarcely been made. Relatively mild changes in the substantia nigra and severe involvement of the peripheral nervous system, as in our case, may be the pathological hallmarks of the type III disorder.
Adult↗
Familial bulbospinal neuronopathy with optic atrophy: a distinct entity.
A 61 year old woman and her 58 year old brother presented with the clinical picture of late onset progressive bulbar and spinal muscular atrophy with family history of involvement in successive generations. The sister also had optic neuropathy and the brother developed diabetes mellitus and sex hormone abnormalities. Neurophysiological and histopathological studies showed a pattern of motor and sensory neuronopathy. There was no abnormal expansion of CAG repeats in the androgen receptor gene. This family seems to have a previously unrecognised entity with the bulbospinal neuronopathy phenotype.
Electromyography↗
[Hereditary motor neuron disease: the proximal, adult, sex-linked form (or Kennedy disease). Clinical and neuroendocrinologic observations].
Clinical, electrophysiological, histological and neuroendocrinological findings in a peculiar form of progressive spinal and bulbar muscular atrophy affecting 4 members in two different families are reported. The clinical hallmarks, which characterize this entity among the group of degenerative motor neuron diseases are: sex-linked recessive inheritance; onset in the third decade; slow progression; involvement of facial and bulbar muscles in addition to wasting of the proximal and, in some cases, the distal musculature; asymmetry of clinical signs; consistent and abundant fasciculations predominantly in the peri-oral muscles; intention tremor and a well-developed gynaecomastia, which is the first clinical sign. Electrophysiological and histological findings confirm the neurogenic origin of the muscular atrophy; in addition, muscle biopsy shows "myopathic-like" changes in one case and serum muscle enzyme levels are elevated in all neurologically affected patients. It is believed that the clinical entity corresponds to the rare type III proximal hereditary motor neuropathy (or "Kennedy's disease"), of which 25 published cases are reviewed. Neuroendocrinological data in two patients demonstrate an androgenic insufficiency of hypothalamo-hypophyseal origin and high levels of circulating oestrogens, which probably have induced gynaecomastia. Dynamic neuroendocrinological tests suggest that lesions of certain hypothalamic nuclei may exist, which should be looked for in the forthcoming anatomical studies.
Adult↗
[X-linked recessive spinal and bulbar muscular atrophy. Kennedy syndrome].
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Disease Progression↗
Diverting colostomy induces mucosal and muscular atrophy in rat distal colon.
The progress of adaptive changes in the left colon after diverting colostomy was studied in rats using stereological techniques. Standardised segments of left colon proximal and distal to the colostomy was examined after 0, 1, 2, 4, or 12 weeks. In excluded colon the mucosal weight was reduced by 37% (p < 0.01) and the luminal surface area by 47% (p < 0.01) after four weeks and reached a steady state at this point of time, as no further reduction was seen from 4 to 12 weeks. The number of proliferating crypt cells was determined immunohistochemically after in vivo labelling with bromodeoxyuridine and was compared with the total number of colonocytes. Total bowel rest leads to a reduction in the number of proliferating epithelial cells and not to a reduced average life span. The weight of the muscularis propria decreased by 32% after four weeks (p < 0.01) and by 48% after 12 weeks (p < 0.001), whereas the weight of the submucosa was unchanged. No adaptive changes were found in segments proximal to the colostomy. These results show that the wall composition of defunctioned colon in rats is radically changed resulting from a mucosal and muscular atrophy, and from a reduction in luminal surface area.
Animals↗
Inclusion body myositis in post-poliomyelitis muscular atrophy.
A 38-year-old male developed a new muscle weakness in his left thigh 35 years after having acute paralytic poliomyelitis with residual right distal leg weakness and atrophy. EMG studies showed widespread denervation in proximal and distal muscles regardless the clinical involvement. Muscle biopsy from an affected muscle showed the findings of inclusion-body myositis consisting of perivascular and interstitial mononuclear infiltration, sarcoplasmic granular inclusions with membranous whorls and typical filamentous inclusions in several myonuclei. This raises the possibility of inclusion body myositis in other cases of progressive post-poliomyelitis muscular atrophy, especially those with perivascular infiltration of mononuclear cells in the muscle biopsy.
Adult↗
On familial ataxia, neural amyotrophy, and their association with progressive external ophthalmoplegia.
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Ataxia↗
Expression of androgen receptor mRNA during mouse embryogenesis.
Androgen receptor (AR) is a member of the nuclear receptor superfamily which acts as a ligand-dependent transcription factor (Beato, M., Herrlich, P., Schütz, 1989. Steroid hormone receptors: many actors in search of a plot. Cell 83, 851-857). It plays a pivotal role in sexual development and reproduction (Wilson, J.D., Griffin, J.E., George, F.W., Leshin, M., 1981. The role of gonadal steroids in sexual differentiation. Rec. Prog. Horm. Res. 37, 1-39; Jost, A., 1990. Hormonal control of the masculinization of the body. In: Baulieu, E.E., Kelly, D.A., (Eds.), Hormones, from Molecules to Disease. Chapman and Hall, New York and London, pp. 439-442.). Mutations in the AR sequence cause a number of physiological disorders, such as partial and complete androgen insensitivity syndromes, that lead to abnormal sexual development (Patterson, M.N., McPhaul, M.J., Hughes, I.A., 1994. Androgen insensitivity syndrome. Ballière's Clin. Endocrinol. Metab. 8, 379-404.). There are indications that AR may also have other functions. For example, structural alterations of the AR sequence have been implicated in prostate cancer (Visakorpi, T., Huytinen, E., Koivisto, P., Tanner, M., Keinänen, R., Palmberg, C., Palotie, A., Tammela, T., Isola, J., Kallioniemi, O.-P., 1995. In vivo amplification of the androgen receptor gene and progression of human prostate cancer. Nature Genet. 9, 401-406.) and in the development of spinal and bulbar muscular atrophy, a neurodegenerative disease (Kennedy, W.R., Alter, M., Sung, J.H., 1968. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 18, 671-680.). Here, we have investigated the spatial and temporal expression of AR during mouse organogenesis by in situ hybridisation. We demonstrate that AR transcripts occur in the developing external genitalia, pituitary, adrenals, kidneys and musculus levator ani, in addition to the known expression sites in the Wolffian ducts and its derivatives and during development of the mammary glands.
Animals↗
Late-childhood-onset spinal muscular atrophy in three Melanesian families in Papua New guinea.
Late-childhood-onset spinal muscular atrophy (SMA) with rapid progression from proximal to distal muscle groups and leading to severe incapacity or death in adolescence or early adult life, was studied in two Melanesian families in Papua New Guinea. Probable SMA with cardiomyopathy was observed in a 12-year-old boy in a related family. The pattern of inheritance in the study group did not conform to any of the conventional Mendelian modes and it was conjectured that the disease was expressed in heterozygote carriers of the SMA gene only when an allelomorphic activator gene was present.
Adolescent↗
Juvenile muscular atrophy of distal upper extremity (Hirayama disease).
This disease is characterized by initially progressive muscular weakness and wasting of the distal upper limb(s) in young people predominantly in men, followed by a spontaneous arrest within several years. This disease has been thought to be separate from motor neuron diseases, yet some authors still consider the illness a variant of motor neuron disease. However, the pathological evidence of ischemic changes in the lower cervical anterior horn should facilitate differentiation of the disorder from degenerative motor neuron disease. Recent radiological investigations proved compressive flattening of the lower cervical cord due to forward displacement of the cervical dural sac and spinal cord induced by neck flexion. These findings suggest that sustained or repeated neck flexion may cause ischemic changes in the cervical anterior horn. Application of a cervical collar to minimize neck flexion prevents progressive muscular weakness in an early stage of the disease.
Arm↗
Functional motor unit failure precedes neuromuscular degeneration in canine motor neuron disease.
Hereditary canine spinal muscular atrophy (HCSMA) features rapidly progressive muscle weakness that affects muscles in an apparent proximal-to-distal gradient. In the medial gastrocnemius (MG) muscle of homozygous HCSMA animals, motor unit tetanic failure is apparent before the appearance of muscle weakness and appears to be presynaptic in origin. We determined whether structural changes in neuromuscular junctions or muscle fibers were apparent at times when tetanic failure is prevalent. We were surprised to observe that, at ages when motor unit tetanic failure is common, the structure of neuromuscular junctions and the appearance of muscle fibers in the MG muscle were indistinguishable from those of symptom-free animals. In contrast, in more proximal muscles, many neuromuscular junctions were disassembled, with some postsynaptic specializations only partially occupied by motor nerve terminals, and muscle fiber atrophy and degeneration were also apparent. These observations suggest that the motor unit tetanic failure observed in the MG muscle in homozygous animals is not due to synaptic degeneration or to pathological processes that affect muscle fibers directly. Together with previous physiological analyses, our results suggest that motor unit failure is due to failure of neuromuscular synaptic transmission that precedes nerve or muscle degeneration.
Animals↗
Pathology of Madras type of motor neuron disease (MMND)--a histological and immunohistochemical study.
A neuropathological report of Madras type of motor neuron disease (MMND) is presented and the differences from other forms of MND are discussed. An 18-year-old girl presented with nerve deafness and slowly progressive bulbo-spinal muscular atrophy, characteristic of MMND. Post-mortem examination of the spinal cord showed a severe loss of anterior horn cells, prominent dilatation of vessels, diffuse, but sparse sprinkling of microglial cells and lymphocytes, and demyelination and sclerosis of the ventrolateral columns. Neuronal depletion and marked gliosis was noted in the cochlear nucleus on both sides, while other bulbar motor nuclei were also involved. The cochlear nerve showed demyelination and axonal loss. Trigeminal and vestibular ganglia revealed features of ganglionitis. The possibility of an inflammatory aetiology for MMND needs to be considered.
Adolescent↗
The future of motor neuron disease: the challenge is in the genes.
Adult-onset motor neuron disease (MND) includes sporadic and familial forms of amyotrophic lateral sclerosis (ALS), lower motor neuron disease including progressive and segmental spinal muscular atrophy (LMND) and primary lateral sclerosis (PLS). ALS/MND can be considered to be a spectrum of neurodegenerative diseases characterised by a preferential degeneration of upper and/or lower motor neurons. ALS and LMND have a complex multifactorial aetiology and a large clinical variability. This combination warrants an increasing genomics approach in future research. Genomics is the structural and functional study of genomes--i. e. the complete set of chromosomes and the genes they contain. Several methods may help to understand gene functions, and every method has led to its own "omics". The study of the complex relationship between on the one hand genomics data, transcriptomics data, proteomics data, and interactomics data and on the other hand the phenotype, is called "phenomics". In phenomics, the extensive and detailed phenotyping by the clinician is a prerequisite for meaningful associations. As a consequence, in ALS/MND clinicians have the task to agree about different clinical subtypes in order to make these associations and hence to gain further insight into the complex pathogenesis and identification of diagnostic markers in ALS/MND. Also, several new approaches in the treatment of ALS/MND are here discussed, including the viral delivery of protective compounds, RNA-interference, and stem cell therapy. Further, we argue that a future challenge is to allow for patients to have early access to multidisciplinary centres with specialist knowledge of ALS/MND. These centres can apply specific models of care for people with ALS/MND, but must be designed in a patient-centred format. Ultimately, these models should be assessed according to their outcomes.
Forecasting↗
Charcot joints and infections-vascular lesions of bones in diabetes mellitus.
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Arthropathy, Neurogenic↗
Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurological disorder that results in relentless damage to the motor neuron system. Although about 5-10% of cases are familial, the pathophysiologic process of ALS remains unknown. We identified a novel point mutation A to G in exon 2 of the Cu/Zn SOD gene, resulting in an amino acid substitution of histidine46 by arginine (H46R), in two Japanese familial ALS (FALS) families. The segregations of the mutation were evident. The enzymatic activities of Cu/Zn SOD of peripheral red blood cell lysate were reduced to about 80% in the affected members, compared with other non-affected family members. The patients in these families are clinically characterized by relative late onset, initial involvement in lower extremities, relative rare impairment of bulbar muscles and much slow progression of muscular weakness and atrophy, compared with other Japanese FALS cases who have no mutation in the Cu/Zn SOD gene. These findings suggest that the H46R mutation in Cu/Zn SOD gene is highly related to this unique subtype of FALS.
Adult↗