11/385. Liquorpheresis (CSF filtration) in familial amyotrophic lateral sclerosis.OBJECTIVES: Liquorpheresis (CSF filtration) has been shown to be of benefit in various neurologic disorders, including sporadic ALS. Liquorpheresis in patients with familial ALS, has not been investigated so far. methods: A 52-year-old woman with familial ALS is reported who underwent liquorpheresis during 4 consecutive days. During this period, 875 ml CSF were filtered off via an intrathecal catheter and a combined mechanical and ionic filter by means of a bi-directional syringe pump. RESULTS: Immediately after treatment and 2 weeks later there was subjective, but no objective, improvement of her symptoms, assessed by the Norris score and measurements of the elbow extension, vital capacity, F-waves of both ulnar nerves and automatic EMG of the right brachial biceps and anterior tibial muscles. CONCLUSION: Liquorpheresis does not seem to be helpful in the treatment of familial ALS.- - - - - - - - - - ranking = 1keywords = sclerosis, ms (Clic here for more details about this article) |
12/385. Brachial amyotrophic diplegia: a slowly progressive motor neuron disorder.OBJECTIVE: To describe a sporadic motor neuron disorder that remains largely restricted to the upper limbs over time. BACKGROUND: Progressive amyotrophy that is isolated to the upper limbs in an adult often suggests ALS. The fact that weakness can remain largely confined to the arms for long periods of time in individuals presenting with this phenotype has not been emphasized. methods: We reviewed the records of patients who had a neurogenic "man-in-the-barrel" phenotype documented by examination at least 18 months after onset. These patients had severe bilateral upper-extremity neurogenic atrophy that spared lower-extremity, respiratory, and bulbar musculature. RESULTS: Nine of 10 patients meeting these criteria had a purely lower motor neuron disorder. During follow-up periods ranging from 3 to 11 years from onset, only three patients developed lower-extremity weakness, and none developed respiratory or bulbar dysfunction or lost the ability to ambulate. CONCLUSION: patients presenting with severe weakness that is fully isolated to the upper limbs, without pyramidal signs, may have a relatively stable variant of motor neuron disease.- - - - - - - - - - ranking = 3.2391825421781E-7keywords = ms (Clic here for more details about this article) |
13/385. A case of motor neurone disease with sleep apnoea syndrome.A case of a 63-year-old patient with motor neurone disease (amyotrophic lateral sclerosis) with central sleep apnoea syndrome is being reported. His sleep architecture was fragmented with a high apnea-hypopnea index of 65 per hour and maximum oxygen-desaturation of 78 percent. Total correction of sleep pattern with nasal non-invasive ventilation (BiPAP-ST) was demonstrated.- - - - - - - - - - ranking = 0.24999991902044keywords = sclerosis (Clic here for more details about this article) |
14/385. reflex sympathetic dystrophy associated with amyotrophic lateral sclerosis.reflex sympathetic dystrophy (RSD) is a syndrome characterised by severe distal pain and vasomotor changes. It is believed to be caused by sympathetic nervous system overactivity. Trauma is the most frequent precipitant event. An association with amyotrophic lateral sclerosis (ALS) has been reported only once. We report three patients with ALS in whom the occurrence of RSD, in one of them at a very early clinical stage, seemed to have precipitated a more rapid clinical evolution. New sprouting re-innervating fibres have abnormal ion channels which might increase the risk of RSD. On the other hand, motor changes have been described in RSD, as well as motor strength improvement after RSD treatment. The complex relation of ALS with RSD is discussed. In all ALS patients pain followed by further loss of function should prompt a search for RSD.- - - - - - - - - - ranking = 1.2499995951022keywords = sclerosis (Clic here for more details about this article) |
15/385. Sporadic amyotrophic lateral sclerosis with multiple system degeneration: a report of an autopsy case without respirator administration.This report concerns an autopsy case of amyotrophic lateral sclerosis (ALS) with unusual clinical and neuropathological findings. The patient was a Japanese man without hereditary burden who was 49 years old at the time of death. His clinical manifestation included dysarthria at age 48, followed by dysphagia, atrophy and fasciculation of the tongue, muscle weakness in the four extremities, tremor, rigidity, increased deep tendon reflexes in the upper and lower extremities, and incoordination of the four extremities. He died of respiratory failure 12 months after the disease onset. No respirator administration was performed throughout the clinical course. The neuropathological examination revealed not only degeneration of upper and lower motor neuron systems, including the presence of Bunina bodies and ubiquitin-immunoreactive neuronal inclusions in the lower motor neurons, but also prominent degeneration of the substantia nigra and dentate nucleus with slight neuronal loss in the locus ceruleus and pontine nucleus. To our knowledge, this is the first reported case of sporadic ALS without dementia and respirator support, showing degeneration of the substantia nigra and dentate nucleus. This report may contribute to the resolution of the question concerning the neuropathological heterogeneity of sporadic ALS with respiratory support.- - - - - - - - - - ranking = 1.2499999190204keywords = sclerosis, ms (Clic here for more details about this article) |
16/385. Presentation of ALS to the otolaryngologist/head and neck surgeon: getting to the neurologist.patients with early symptoms of bulbar amyotrophic lateral sclerosis (ALS) are usually referred to the otolaryngologist without a diagnosis. Careful examination of the speech quality and a physical exam, including the vocal cords, should be undertaken. The emotional state of the patient should be considered, and a diagnosis should not be offered before a neurologic consultation has been obtained. patients with late symptoms of bulbar ALS almost always present with both significant speech and swallowing abnormalities. Evaluation can be difficult because many abnormalities are found on examination. Advanced progression of symptoms is a clear indication for rapid referral to a neurologist if a diagnosis has not already been made. Supportive and symptomatic care should be offered to the patient immediately. The University of washington Neuromuscular Clinic for speech and Swallowing Disorders has seen 600 new neurologic patients since 1986, 211 of whom were ALS patients. The introduction of percutaneous gastrostomy has greatly changed the management of ALS patients, and 75 patients have undergone this procedure (32% because of inadequate swallowing, 68% for declining vital capacity). Medical management to improve symptoms may be indicated before surgery. Surgical options for patients with late salivary presentation are uncommon and include removal of the submaxillary glands, tracheostomy, and laryngeal or salivary diversion procedures. laryngectomy or laryngeal diversion procedures are only very rarely indicated. Although tracheostomy usually interferes with swallowing and worsens aspiration, it may rarely be indicated in patients with late airway presentation for glottic narrowing or artificial respiratory support. Symptomatic management of patients with bulbar ALS is usually best undertaken by a multidisciplinary clinic that can provide a physically and psychologically supportive environment.- - - - - - - - - - ranking = 0.25000121469345keywords = sclerosis, ms (Clic here for more details about this article) |
17/385. Numerous conglomerate inclusions in slowly progressive familial amyotrophic lateral sclerosis with posterior column involvement.A 59-year-old woman with slow progression of the loss of motor function and predominant lower motor manifestation during a 14-year period showed familial amyotrophic lateral sclerosis (fALS) with posterior column involvement, neuropathologically. Conglomerate inclusions (CIs) were observed in the remaining neurons in various areas, including the spinal anterior horn, posterior horn, Clark's column, accessory cuneate nucleus, tegmental reticular formation, motor nucleus of the trigeminal nerve, nucleus of the facial nerve, hypoglossal nucleus, medial nucleus of the thalamus, dentate nucleus, and motor cortex (Betz cells). Immunohistochemically, it was newly identified that the CIs showed marked immunoreactions with antibodies to phosphorylated and non-phosphorylated neurofilaments and to 64, 120, and 200 kD neurofilaments. The CIs were partially immunoreactive with the anti-ubiquitin antibody, although they reacted only weakly (or not at all) with anti-Cu/Zn superoxide dismutase (SOD1) antibody. Ultrastructurally, the CIs were comprised of neurofilaments. These data suggest that this case might have been different from an example of fALS with Ile 113 Thr mutation in the SOD1 gene.- - - - - - - - - - ranking = 1.2499995951022keywords = sclerosis (Clic here for more details about this article) |
18/385. Nigral degeneration in a case of amyotrophic lateral sclerosis: evidence of Lewy body-like and skein-like inclusions in the pigmented neurons.This report describes a 58-year-old man who exhibited the clinical features of amyotrophic lateral sclerosis (ALS) at autopsy, 1 year after clinical onset of the disease. Neuropathologically, in addition to degeneration of the upper and lower motor neurons, marked degeneration of the substantia nigra with the appearance of Lewy body-like inclusions (LBI) and skein-like inclusions (SLI) were observed in the remaining pigmented neurons. An immunohistochemical study revealed that both LBI and SLI were immunopositive for ubiquitin. Ultrastructurally, LBI in the substantia nigra were composed of randomly arranged 15 nm thick tubular structures associated with ribosome-like granules, similar to those of LBI in the lower motor neurons. SLI in the substantia nigra were composed of curved bundles of 5 nm thick filaments (thinner than those comprising the SLI in the lower motor neurons). We believe that degeneration of the substantia nigra could be one of the degenerative processes involved in ALS.- - - - - - - - - - ranking = 1.2499995951022keywords = sclerosis (Clic here for more details about this article) |
19/385. Mother with amyotrophic lateral sclerosis and daughter with Creutzfeldt-Jakob disease.OBJECTIVE: To describe a mother who had autopsy-proved amyotrophic lateral sclerosis and her daughter who had clinically diagnosed Creutzfeldt-Jakob disease. DESIGN: case reports with molecular genetic analyses. SETTING: A tertiary care center. patients: The mother had progressive upper and lower motor neuron symptoms and signs starting at the age of 54 years. Electrophysiological testing supported the diagnosis of amyotrophic lateral sclerosis. autopsy results confirmed the diagnosis. Her daughter had received injections of human growth hormone prepared from pooled human pituitary glands as a child. At the age of 31 years, she experienced the onset of gait ataxia and dysarthria. cerebrospinal fluid showed the 14-3-3 protein. Cognitive difficulties ensued. She progressed to a nearly akinetic and mute state. She had overt visible fasciculations and muscle atrophy in the legs. MAIN OUTCOME MEASURES AND RESULTS: Neither patient carried a mutation in the prion protein gene. Both were homozygous for methionine at the polymorphic codon 129. Neither patient carried a deletion of the 5 exons of the superoxide dismutase 1 gene. CONCLUSIONS: It is uncertain whether the 2 cases occurred in the same family by chance or whether the patients shared genetic risk factors for the 2 diseases. The possibility that homozygosity at codon 129 is a risk factor for amyotrophic lateral sclerosis is being tested in a case-control study.- - - - - - - - - - ranking = 1.7499997570613keywords = sclerosis, ms (Clic here for more details about this article) |
20/385. Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation.OBJECTIVE: To report neuropathologic features of argyrophilic inclusions in the anterior horn cells, motor cortex Betz cells, and neurons of the medullary reticular formation, spinal posterior horn, and Clarke column in a Japanese case of familial amyotrophic lateral sclerosis with I113T substitution in exon 4 of the copper-zinc superoxide dismutase (SOD1) gene. methods AND RESULTS: These inclusions were stained pale pink on the hematoxylin-eosin stain and dark on the Bielschowsky stain. They were positive for antibodies to phosphorylated neurofilaments, ubiquitin, and SOD1. On electron microscopy, they consisted of abundant intermediate filaments of 10 to 20 nm in diameter with disordered array indicating neurofilaments. CONCLUSION: These findings suggest that the I113T mutation induces accumulation of neurofilaments and SOD1 in the central nervous system neurons.- - - - - - - - - - ranking = 1.2499995951022keywords = sclerosis (Clic here for more details about this article) |
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