[Case reports and hereditary biology of spastic spinal paralysis].
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Amyotrophic Lateral Sclerosis↗
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Posterior tibial and sural nerve somatosensory evoked potentials: a study in spastic paraparesis and spinal cord lesions.
In two groups of patients posterior tibial nerve (PTN) and sural nerve (SN) somatosensory evoked potentials (SEPs) were compared to each other and related to classified neurological signs. Group A consisted of 7 patients with hereditary spastic paraparesis (HSP) and 8 with primary lateral sclerosis (PLS), with solely or primarily motor deficits. Group B consisted of 12 patients with different spinal cord diseases causing variable mixed sensory and motor impairments. Normal values were derived from 39 controls. A clear trend towards more frequently prolonged PTN SEP than SN SEP latencies was found in both groups and appears to make PTN SEPs more useful for clinical application than SN SEPs. No significant differences were found in SEP abnormalities when the two patient groups were compared to each other. No relationships were found between SEP abnormalities and spasticity, weakness or any single sensory modality, making the two SEPs questionable as a quantitative test for neurological deficits in our patients.
Adolescent↗
Classification and clinical features of motor neurone diseases and motor neuropathies in adults.
The term motor neurone disease encompasses combined upper and lower motor neurone disorders (amyotrophic lateral sclerosis), pure lower motor neurone disorders (spinal muscular atrophies, multifocal motor neuropathies, post irradiation lumbosacral radiculopathy, post-polio syndrome, hereditary bulbar palsy) and pure upper motor neurone disorders (primary lateral sclerosis, hereditary spastic paraplegia, neurolathyrism, Konzo). The chief clinical and electrophysiological criteria for these different disorders are discussed, with particular attention to diagnostically distinctive characteristics of each. Age of onset, and inheritance are considered as additional diagnostic features.
Adult↗
[Tissue variability of androgen receptor gene in bulbospinal muscular atrophy--comparison of the number of CAG repeats between muscles and peripheral blood leukocytes].
We investigated an expansion of CAG repeats in exon 1 of androgen receptor gene in skeletal muscle tissue obtained from the patients with various neuro-muscular disorders (5 BSMA, 33 patients with amyotrophic lateral sclerosis, 3 patients with spinal progressive muscular atrophy and 2 patients with hereditary motor sensory neuropathy), by polymerase chain reaction (PCR) amplification according to LaSpadas' description. These muscle tissues had been stored at -70 degrees C freezer during 7 years. We also studied the tissue variation of CAG repeats size between muscles and peripheral blood leukocytes in 4 patients with BSMA. And we confirmed the increased number of CAG repeats in all 5 BSMA except for other patients with neurogenic muscular atrophy. In the 4 BSMA patients, we subcloned the PCR products from muscles tissues and peripheral blood leukocytes, and we determined the number of CAG repeats by sequencing. The repeats of them were 43-51, and all BSMA patients showed the same number of CAG repeats in muscles tissues and peripheral blood leukocytes. The CAG repeats fragment of BSMA may be stable region in frozen storage state for 7 years, and we didn't recognized the somatic variation at least between muscles tissues and peripheral blood leukocytes.
Adenosine↗
[The clinical diagnostic value of studies using magnetic stimulation].
OBJECTIVE: To assess the clinical value of magnetic stimulation in various neurological disorders. DESIGN: A retrospective, descriptive study. SETTING: Department of Neurology and Clinical Neurophysiology, Medisch Spectrum Twente, Enschede. METHOD: Evaluation of motor pathways by magnetic stimulation of the human brain and peripheral nervous system is a new, noninvasive technique. A magnetic field pulse, produced by a wire coil, induces a small stimulating current applied to the motor cortex, cervical or lumbar spine or peripheral nerves. Muscle responses can be recorded by EMG recording systems in upper and lower extremities. Central conduction times can be obtained by computing latency differences between cortical and cervical or lumbar stimulation respectively. Magnetic motor evoked potentials were recorded in 60 patients with various neurological disorders, including multiple sclerosis, motor neuron disease, spinal and peripheral disorders. RESULTS: Abnormal motor evoked potentials were recorded in 5 of 8 patients with multiple sclerosis, 5 of 5 with motor neuron disorder, 5 of 6 with hereditary spastic paraplegia, 12 of 16 with various spinal disorders, 6 of 11 with lower motor neuron disorders, 0 of 4 with hysterical paralyses and 7 of the 10 remaining patients. However, these abnormalities were non-specific and could be suspected in most cases after physical examination. CONCLUSION: Magnetic stimulation is a painless and safe technique of which the clinical usefulness is still limited. It is likely that it will gain an important place in diagnosing neurological disorders, especially with involvement of motor pathways.
Adult↗
The genetics of motor neuron diseases.
Motor neuron diseases may be divided into three categories: those with lower motor neuron involvement--spinal muscular atrophy (SMA) and spinobulbar muscular atrophy (SBMA or Kennedy's disease); those with upper motor neuron involvement--primary lateral sclerosis (PLS) and the spastic paraplegias; and those with combined upper and lower motor neuron involvement--amyotrophic lateral sclerosis (ALS). Other familial motor neuron disorders include hereditary neuronopathies, GM2 gangliosidosis, and possibly the ALS/PD syndrome of Guam. The contribution of genetics to the etiopathogenesis of motor neuron considerably, accounting for a high percentage of spinal muscular atrophies, but only a small fraction of cases of ALS. The mode of inheritance also varies, with examples of autosomal dominant (AD), autosomal recessive (AR), or X-linked kindreds. (Tables 1 and 2).
Amyotrophic Lateral Sclerosis↗
A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation.
In most cases of Leber's hereditary optic neuropathy (LHON) the only clinical manifestation is visual loss. A multiple sclerosis-like illness has been infrequently reported in association with LHON. Most patients are women harboring the mtDNA 11778 mutation. We present a young man with clinical and paraclinical evidence of a demyelinating process with profound bilateral visual loss who harbored the mtDNA 14484 mutation associated with LHON.
Adult↗
Molecular genetics and clinical aspects of inherited disorders of nerve and muscle.
Rapid progress has been made in elucidating the molecular genetic basis of several neuromuscular disorders in the past year. Candidate genes have been identified or analysed in hereditary motor and sensory neuropathy (HMSN) type I, X-linked bulbospinal neuronopathy and non-dystrophic myotonic disorders, and further mutations causing amyloidosis have been identified. A familial amyotrophic lateral sclerosis (ALS) locus maps to chromosome 21 in some families, and the chronic childhood spinal muscular atrophy (SMA), facioscapulohumeral muscular dystrophy (FSHD) and malignant hyperthermia loci have been localized more precisely.
Amyloidosis↗
Effect of intrathecal baclofen on sleep and respiratory function in patients with spasticity.
OBJECTIVE: To prospectively evaluate the effect of pump-infused intrathecal baclofen infusion (ITB) in therapeutic doses on sleep quality and on daytime and nighttime respiratory function in patients with severe spasticity. METHODS: We prospectively evaluated 20 consecutive patients (mean +/- SD age 45 +/- 13 years). We assessed spasticity and obtained polysomnography, pulmonary function tests, and resting energy expenditure measurements 1 week before and at least 8 days after pump implantation. Patients stopped oral baclofen upon pump implantation but continued other medications unchanged. We report descriptive statistics as means +/- SD. RESULTS: Most of the patients had multiple sclerosis (n = 9) or spinal cord injury (n = 8); there was one case each of cerebral palsy, hereditary spastic paraplegia, and Friedreich ataxia. Before and after ITB initiation, mean Ashworth scores were 2.75 +/- 0.85 and 1.15 +/- 0.36, and mean spasm scores were 3.75 +/- 0.55 and 1.00 +/- 0.56. ITB improved total sleep time (p = 0.05) and sleep efficiency (p = 0.01) and reduced periodic leg movements (p = 0.02). ITB did not modify sleep-related respiratory events, lung function tests, CO2 rebreathing response, or resting energy expenditure. CONCLUSION: Compared with oral baclofen, intrathecal baclofen infusion did not affect respiratory function and improved sleep continuity. Intrathecal baclofen infusion in therapeutic doses may act at the spinal level rather than at the supraspinal level.
Adult↗
Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy: a clinicopathological study.
We report an autopsy case of amyotrophic lateral sclerosis (ALS) clinically diagnosed as spinal progressive muscular atrophy (SPMA). The patient was a Japanese woman without hereditary burden. She developed muscle weakness of the distal part of the left lower extremity at age 42, followed by muscle weakness and atrophy of the right lower extremity and upper extremities. At age 57, she needed transient ventilatory support. Slight weakness in the facial muscles and fasciculation of the tongue appeared at age 60. At age 61, she died of sudden respiratory arrest. During the clinical course, neurological examination revealed neither Babinski signs nor hyperreflexia. The neuropathological examination revealed not only neuronal loss with gliosis in the facial nucleus, hypoglossal nucleus, and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tracts. Based on these clinicopathological findings and review of literature, we conclude that sporadic ALS mimicking SPMA is present.
Amyotrophic Lateral Sclerosis↗
Defective neurofilament transport in mouse models of amyotrophic lateral sclerosis: a review.
Neurofilament proteins synthesized in the cell body of neurons are assembled and transported into axons, where they influence axon radial growth, axonal transport, and nerve conduction velocities. In diseased states, neurofilaments accumulate in cell bodies and proximal axons of affected neurons, and these lesions are characteristic of many neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), spinal muscular atrophy (SMA), Charcot-Marie-Tooth disease type 2 (CMT2), and hereditary sensory motor neuropathy. Although the molecular mechanisms that contribute to these accumulations are not yet identified, transgenic mouse models are beginning to provide insight into the role of neurofilament transport in disease-related dysfunction of neurons. This review addresses axonal transport in mouse models of ALS and the special significance of neurofilament transport in this disease.
Amyotrophic Lateral Sclerosis↗
Sporadic amyotrophic lateral sclerosis of long duration mimicking spinal progressive muscular atrophy exists: additional autopsy case with a clinical course of 19 years.
This report concerns an autopsy case of sporadic amyotrophic lateral sclerosis (ALS) clinically diagnosed as having spinal progressive muscular atrophy (SPMA). The patient was a Japanese woman without hereditary burden. She developed muscle weakness in the distal part of the right upper extremity at age 52, followed by muscle weakness in the left upper extremity and lower extremities at age 54 and 64, respectively. At age 66 she could not walk, even with assistance. Fasciculation and atrophy of the tongue appeared at age 68, followed by dysphagia and dysarthria at age 70. She died of respiratory disturbance at age 71. During the clinical course, neurological examination revealed neither Babinski sign nor hyperreflexia. No respirator administration was performed throughout the clinical course. Neuropathological examination disclosed not only neuronal loss with gliosis in the hypoglossal nucleus and anterior horns of the spinal cord, but also loss of Betz cells and degeneration of the pyramidal tract. Based on these clinicopathological findings and a literature review of sporadic autopsy cases of ALS with long clinical course (10 years or more), including four cases without pyramidal signs, we believe that sporadic ALS of long clinical course mimicking SPMA exists.
Aged↗
Electrostimulation of the nervous system for patients with demyelinating and degenerative diseases of the nervous system and vascular diseases of the extremities.
The results of electrostimulation of the spinal cord for symptoms other than that of pain are recorded in this publication. 50% of patients with multiple sclerosis, primary lateral sclerosis and hereditary spino-cerebellar disorders were observed to have enduring favourable changes in neurological function during the 15 to 27 months they have been followed. The patients who were the least severely disabled had the greatest amount of increased function and were benefitted the most by the stimulation. Those who had the fewest neurological pathways affected make the most rapid progress. For example, the patient with only an ataxic or spastic gait was observed to improve faster than the patient with an ataxic and a spastic gait. The long-term effect of electrostimulation of the spinal cord on patients with these diseases is unknown at the present time. The purpose of the stimulation is to increase neurological function so that the patient can live a better life style. It is not thought that the electrical current is responsible for a 'cure' of the basic disease process. Electrostimulation of the posterior spinal roots and spinal cord, while not new, has not been used extensively for the treatment of patients with arterial disease. The patients who have responded the most dramatically to electrostimulation are those with vasospastic disorders. A larger percentage of patients showed a greater response to implanted stimulation than to transcutaneous stimulation. Electrostimulation of the nervous system is not designed to replace standard therapeutic measures of treatment of patients with vascular disease but to supplement them.
Ataxia↗
Leber hereditary optic neuropathy, progressive visual loss, and multiple-sclerosis-like symptoms.
PURPOSE: To report a case of Leber hereditary optic neuropathy with multiple-sclerosis-like symptoms. METHODS: Observational case report. A 34-year-old man was found to have Leber hereditary optic neuropathy and a mutation at position 11778 of the mitochondrial genome. The progression of vision loss and onset of weakness in the right leg warranted neuroimaging. RESULTS: Magnetic resonance imaging documented multiple lesions in the brain and spinal cord. CONCLUSION: Although rarely reported, progression of optic neuropathy over months has been previously documented in Leber hereditary optic neuropathy. The emergence of multiple sclerosis-like symptoms and signs in our patient may be part of the spectrum of Leber hereditary optic neuropathy or a coincidental occurrence.
Adult↗
The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity.
The extreme morphology and polarised architecture of neurons require the highly sophisticated microtubule transport system for both construction and lifelong survival. Genomic evidence from an expanding landscape of human mutations supports the essential role of the microtubule transport machinery. During neurodevelopment, mutations disrupt the proliferation and migration of neuronal precursors, as well as the initial establishment of polarity. In the mature nervous system, the reliance on microtubule transport shifts to the long-term maintenance of axon integrity and synaptic proteostasis. Across the motor proteins responsible for long distance transport in neurons, mutations highlight a specific vulnerability of long axons to transport failure in Hereditary Spastic Paraplegia (HSP), Charcot Marie Tooth disease Type 2 (CMT2), Spinal Muscular Atrophy (SMA), Perry Syndrome, and Amyotrophic Lateral Sclerosis (ALS) amongst others. Due to the role of microtubule motors in development and maintenance, there is frequently a phenotypic spectrum within a single gene of the microtubule transport system. For example, mutations in dynein motors are linked both to malformations of cortical development and specific motor neuron loss in SMA-LED (Spinal Muscular Atrophy with Lower Extremity Predominance). By synthesising genetic evidence, this review illustrates how specific molecular failures, ranging from motor-domain kinetics to cargo binding, can inform our understanding of neuronal homeostasis. Ultimately, we argue that microtubule transport is not merely a cellular utility, but a key determinant of neuronal longevity.
Humans↗
Hereditary canine spinal muscular atrophy.
Hereditary canine spinal muscular atrophy is a newly recognized motor neuron disease occurring in Brittany Spaniels. The clinical manifestations, pattern of inheritance, electrodiagnostic findings, and muscle biopsies have features in common with human spinal muscular atrophy. Neuropathological examination discloses some loss of motor neurons in the spinal cord and brainstem. Many of the surviving motor neurons have neurofibrillary swellings in proximal axons, an abnormality similar to that which occurs early in the course of human amyotrophic lateral sclerosis. These axonal swellings are filled with maloriented skeins of neurofilaments. Since the proteins comprising neurofilaments are carried by slow axonal transport, their accumulation within axons suggest that the swellings may result from impaired slow transport, a hypothesis that can be tested in affected Brittany Spaniels. Hereditary canine spinal muscular atrophy is a new genetic, clinical, and pathological entity, and, at present, it appears to be the best currently available animal model of motor neuron disease.
Animals↗
An estimate of the heritable fraction of childhood cancer.
We have reviewed the records of the 16,564 cases of childhood cancer diagnosed from 1971 to 1983 which were reported to the National Registry of Childhood Tumours in Great Britain for the presence of underlying genetic disease in order to estimate the proportion which results from inherited mutations. A genetic condition was listed for 509 patients, or 3.07% of the total number of tumours. The most frequently recorded diagnoses were: bilateral retinoblastoma (162 cases); Down syndrome (135); neurofibromatosis (90); hereditary Wilms' tumour (71); and tuberous sclerosis (20). The highest hereditary fractions at individual tumour sites were seen for: retinoblastoma (37.2%); kidney (7.2%); leukaemia (2.6%) and brain and spinal cord (2.0%). When information about family history from published reports was incorporated into the figures calculated from Registry data the total genetic fraction was estimated to be 4.2%. We conclude that there is a clear genetic basis for a small minority of the cancers of childhood, but ethnic variation and the lack of known environmental determinants suggest that the total influence of heredity may be higher.
Child↗