1/69. syndrome of inappropriate secretion of antidiuretic hormone associated with amyotrophic lateral sclerosis in respiratory failure.A 65-year-old man who had muscle weakness and dysarthria was admitted for investigation of motor neuron disease. He had lost 12 kg of weight in 6 months. Neurological findings disclosed upper and lower motor neuron disturbances with normal sensory nerve function, and needle electromyography showed a neurogenic pattern. Laboratory findings on admission demonstrated dilutional hyponatraemia due to an excessive secretion of antidiuretic hormone (ADH). Based on these findings, the patient was diagnosed as having the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) associated with amyotrophic lateral sclerosis (ALS). During the night of first hospital day, the patient complained of severe dyspnoea, and mechanical ventilation was commenced. Following the mechanical ventilation, plasma ADH levels and serum sodium concentration were normalized. We propose that respiratory failure secondary to the atrophy of respiratory muscle might be responsible for the development of SIADH.- - - - - - - - - - ranking = 1keywords = dysarthria (Clic here for more details about this article) |
2/69. amyotrophic lateral sclerosis syndrome and hyperthyroidism: report of 4 patients.Four patients with clinical diagnosis of amyotrophic lateral sclerosis syndrome and laboratory results of hyperthyroidism were reported. There were 3 women aged 27, 59, 59 years and 1 man aged 50 years. All of them had symptoms and signs of dysarthria and dysphagia, fasciculations of the tongue, muscle weakness with generalized hyperreflexia. After treatment with antithyroid drugs, motor weakness and dysphagia improved.- - - - - - - - - - ranking = 1keywords = dysarthria (Clic here for more details about this article) |
3/69. 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 = 1keywords = dysarthria (Clic here for more details about this article) |
4/69. 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 = 1keywords = dysarthria (Clic here for more details about this article) |
5/69. Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family.We report a Japanese family with autosomal dominant adult-onset amyotrophic lateral sclerosis (FALS) with onset in the bulbar musculature, clinically benign course, absence of the Cu/Zn superoxide dismutase-1 (SOD 1) gene mutation, and many Bunina bodies, in addition to involvement of the upper and lower motor neurons. The proband was a Japanese woman who was 66 years old at the time of death. family history disclosed five patients with FALS over three generations. She developed dysarthria at age 57, followed by dysphagia, muscle weakness of the upper extremities, and difficulty in respiration. She could walk without support until her death. The elder sister of the proband developed dysarthria at age 48 and died at age 58. A genetic study of the nephew of the proband showed the absence of a mutation in the SOD 1 gene. Neuropathological examination of the proband disclosed neuronal loss in the upper and lower motor neurons, and numerous Bunina bodies in the lower motor neurons without Lewy body-like inclusions or ubiquitin-immunoreactive neuronal inclusions. No degeneration of the Clarke's column, middle root zone of the posterior column, or posterior spinocerebellar tract was present. review of the literature revealed that only patients with FALS with a long survival period of over 5 years had pathological findings consistent with FALS with posterior column involvement. This study contributes to the elucidation of the clinicopathological heterogeneity of FALS.- - - - - - - - - - ranking = 2keywords = dysarthria (Clic here for more details about this article) |
6/69. ALS-Plus syndrome. A clinical and neuropathological case study.ALS-Plus syndrome occurs rarely and usually presents typical ALS phenotype associated with dementia, Parkinsonism or both. We reported a case of sporadic, definite ALS with pseudobulbar palsy, emotional lability and selective cognitive deficit in the presence of frontal lobe dementia. neuropsychological tests predominantly demonstrated perserveration and dynamic apraxia, CT and MRI scans showed widened subarachnoideal spaces in the frontal and temporal regions. The neuropathological findings confirmed ALS processes i.e. atrophy of motor nuclei in brainstem and anterior horns of cervical spinal cord and showed mild atrophy and status spongiosus in the frontal lobes. These findings suggest the co-occurrence of sporadic ALS and frontal lobe dementia: ALS-Plus syndrome.- - - - - - - - - - ranking = 144.00967895202keywords = pseudobulbar, bulbar palsy, palsy (Clic here for more details about this article) |
7/69. amyotrophic lateral sclerosis in a battery-factory worker exposed to cadmium.A 44-year-old patient died from amyotrophic lateral sclerosis (ALS) after nine years of heavy exposure to cadmium (Cd) in a nickel cadmium (Ni-Cd) battery factory. Two years after starting work he and co-workers had experienced pruritus, loss of smell, nasal congestion, nosebleeds, cough, shortness of breath, severe headaches, bone pain, and proteinuria. Upper back pain and muscle weakness progressed to flaccid paralysis. EMG findings were consistent with motor neuron disease. Cd impairs the blood-brain barrier, reduces levels of brain copper-zinc (Cu-Zn) superoxide dismutase (SOD), and enhances excitoxicity of glutamate via up-regulation of glutamate dehydrogenase and down-regulation of glutamate uptake in glial cells. High levels of methallothionein, a sign of exposure to heavy metals, have been found in brain tissue of deceased ALS patients. The effects of Cd on enzyme systems that mediate neurotoxicity and motor neuron disease suggest a cause effect relationship between Cd and ALS in this worker.- - - - - - - - - - ranking = 0.024858355416597keywords = paralysis (Clic here for more details about this article) |
8/69. Sporadic amyotrophic lateral sclerosis showing abnormal somatosensory evoked potentials: a report of three cases.OBJECTIVE: Although dysfunction of the sensory systems in sporadic amyotrophic lateral sclerosis (ALS) has been reported, the clinical characteristics of such cases still remain unknown. We therefore performed a clinico-electrophysiological analysis of sporadic ALS patients. MATERIAL AND methods: Twelve ALS patients (aged 36-66 years), who had their somatosensory evoked potentials (SEPs) evaluated, were reviewed and their clinical characteristics were delineated. In addition, needle EMG, sensory nerve conduction velocities, motor evoked potentials (MEPs) and cervical MRI or plain X-ray of the neck were also recorded. RESULTS: Three cases were segregated from the other 9 patients because of predominant upper motor neuron signs with pseudobulbar palsy and abnormal posterior tibial nerve and/or median nerve SEPs. The MEPs were also abnormal in these 3 patients and the brainstem auditory evoked potentials were abnormal in one patient. EMG revealed less involvement in the lower motor neurons. CONCLUSION: Sporadic ALS with a predominant upper motor neuron sign and also demonstrating pseudobulbar palsy with abnormal SEPs, may therefore form a clinical subtype of ALS.- - - - - - - - - - ranking = 288.01935790405keywords = pseudobulbar, bulbar palsy, palsy (Clic here for more details about this article) |
9/69. amyotrophic lateral sclerosis associated with sarcoidosis.We report a rare association of amyotrophic lateral sclerosis (ALS) with incidental pulmonary and muscle sarcoidosis. A 63-year-old woman presented with slowly progressive weakness and atrophy of the extremities starting from the left leg. The biopsy of a small mass in the left gastrocnemius revealed a typical sarcoid nodule. She was treated with corticosteroid for possible sarcoid neuromyopathy. In spite of the treatment, her clinical course was relentlessly progressive and she died of bulbar palsy. autopsy revealed a loss of motor neurons in the anterior horn, vacuolar degeneration of the lateral funiculus, and noncaseating granulomas in paratracheal lymph nodes and lungs. No granulomatous lesion or cellular infiltration was found in the spinal cord.- - - - - - - - - - ranking = 56.304278998133keywords = bulbar palsy, palsy (Clic here for more details about this article) |
10/69. amyotrophic lateral sclerosis associated with pregnancy.amyotrophic lateral sclerosis (ALS) is the most common, progressive motor neurone disease but is rare in the obstetric population. Only 4 cases have been described in the English literature since 1975. We describe a 29 year old woman who presented with ataxia, lower limb weakness and dysarthria 4 weeks after the birth of her first child. The symptoms had onset during the pregnancy but had not been considered remarkable. There were clinical features of upper and lower motor neurone involvement without any sensory loss. MRI of brain and spine was normal. CSF analysis was negative. EMG studies confirmed the presence of widespread anterior horn cell dysfunction compatible with ALS. The patient was commenced on riluzole and has progressed clinically, at 12 months post diagnosis.- - - - - - - - - - ranking = 1keywords = dysarthria (Clic here for more details about this article) |
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