Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 64-year-old right-handed woman whose initial symptom was slowly progressive aphasia without generalized dementia and who was subsequently diagnosed as having corticobasal degeneration (CBD). Neurological examination revealed disturbed vertical gaze, dysarthria, rigidity of the right upper extremity, and bilateral instinctive grasp reaction. Neuropsychological assessment disclosed Broca's aphasia, buccofacial apraxia, and memory disturbance. MRI of the brain showed atrophy of the frontotemporal lobes, which was more severe on the left than on the right, especially the left inferior frontal gyrus. In most reported cases of CBD, the initial symptom is motor dysfunction of the unilateral upper or lower extremity. However, we should be cautious that among cases with CBD, there have been rare cases that begin with progressive aphasia alone. In our case, the atrophied region of the cerebral cortex was most severe around the left inferior frontal gyrus. In a few reported cases with the initial symptom of aphasia, the atrophied region corresponded considerably to the type of the aphasia. On the other hand, in those whose initial symptom was mainly motor dysfunction of the unilateral extremity, the atrophied region was remarkable in the posterior part of the frontal lobe and parietal lobe. Therefore, we suggest that in CBD the distribution of the cerebral cortical lesions differs in accordance with whether the initial symptom is motor disturbance or aphasia, and that the type of aphasia corresponds to the location of the cortical lesion.
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PMID:[A case of corticobasal degeneration presenting with primary progressive aphasia]. 921 26

Viliuisk encephalomyelitis (VE) is an unique neurological disease occurring in the Iakut (Sakha) people of Siberia. Evolution of the disease follows one of three broad clinical forms: subacute, slowly progressive or chronic. Death occurs within 3 to 6 months in subacute cases and within 6 years in the slowly progressive cases. Chronic cases lack a subacute phase but show a slowly progressive dementia associated with bradykinesia, dysarthria and spastic paraparesis that stabilizes late in the disease process. In subacute and slowly progressive cases, focal necrotizing encephalomyelitis is seen at necropsy. Chronic cases show multifocal areas of lysis with a gliotic margin, predominantly within grey matter, lacking associated chronic inflammatory changes seen in the other forms of the disease. Epidemiological studies are consistent with a disease of low-grade communicability, but laboratory studies have so far failed to reveal an infectious organism. The spectrum of neuropathological changes are reviewed in this examination of 11 cases. Although the aetiology of VE remains obscure, further studies are warranted since it may represent a novel disease process.
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PMID:Viliuisk encephalomyelitis--review of the spectrum of pathological changes. 922 30

Cerebellar disorders associated with HIV infection are typically the result of discrete cerebellar lesions resulting from opportunistic infections such as toxoplasmosis and progressive multifocal leukoencephalopathy or primary CNS lymphoma. Clinical symptoms and pathologic abnormalities related to the cerebellum may also be observed with HIV dementia. A primary cerebellar degeneration with HIV has not previously been reported. Ten patients were identified over an 8-year period at five medical centers. All patients had clinical, laboratory, and radiologic evaluations, and three had neuropathologic examinations. Patients presented with progressively unsteady gait, slurred speech, and limb clumsiness. Examination revealed gait ataxia, impaired limb coordination, dysarthria, and abnormal eye movements. Cognition, strength, and sensory function remained normal. CD4 lymphocyte counts varied between 10 and 437 cells/mm3. Neuroimaging studies showed prominent cerebellar atrophy. Neuropathology showed focal degeneration of the cerebellar granular cell layer and unusual focal axonal swellings in the brainstem and spinal cord. Cultures, histopathology, and immunochemical studies showed no conclusive evidence of infection. We report a syndrome of unexplained degeneration of the cerebellum occurring in association with HIV infection.
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PMID:Cerebellar degeneration associated with human immunodeficiency virus infection. 1069 Oct 12

A productive, intelligent, 60-year-old practicing attorney slowly begins to notice that the language that he has commanded throughout his life is beginning to become more difficult to produce, exacting its toll on his mental energy and emotional stability. His search for answers to his diminished "memory for words" leads him through the fetid ranks of traditional medicine and into the search for a differential diagnosis involving clinical neurology, neuropsychology, and speech-language pathology. Consistencies and conflicts in the signs and symptoms between the competing diagnoses raise theoretical and clinical classification issues. A course of treatment for aphasia provides evidence to support the diagnosis of primary progressive aphasia, but the development of concommitant spastic dysarthria and dysphagia challenge current wisdom about the underlying neuropathology of aphasia and support a diagnosis of early dementia. A selective but steady and rapid decline of abilities over the course of 2 years leads to the patient's death and autopsy, from which a neuropathologic analysis was to provide the "final" and "ultimate" diagnosis. But it doesn't!
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PMID:The case of the lawyer's lugubrious language: dysarthria plus primary progressive aphasia or dysarthria plus dementia? 951 92

Corticobasal degeneration (CBD) was first reported by Rebeiz et al as corticodentatonigral degeneration with neuronal achromasia in 1967. After Gibb et al described 7 cases including 4 cases from the literature under the term of corticobasal degeneration, CBD has become widely recognized. The disease starts mainly in one's fifties and sixties with the duration of 6 to 7 years. The clinical features include asymmetric parkinsonism, cerebral cortical signs, and others. Typically, patients present with unilateral clumsiness with akinetic-rigid syndrome and limb-kinetic apraxia. Postural instability, gait disturbance and involuntary movements such as dystonia are not uncommon. The parkinsonism is DOPA-resistant. BEsides apraxia, alien limb syndrome, cortical sensory disturbances, frontal lobe-release signs, and dementia are representative cortical signs. Other clinical features include dysarthria, pyramidal tract signs and supranuclear gaze palsy. MRI, SPECT or PET reveals asymmetric atrophy, decrease in blood flow or reduction in metabolism of the frontal parietal region around the central sulcus. Electrophysiological and magnetic stimulation studies demonstrated increase in excitability of the cerebral cortex. Myoclonus in CBD is cortical in origin but without any preceding potential or giant somatosensory evoked potential. Neuropathologically CBD is characterized by involvement of the particular cortices and substantia nigra. Other structures such as the putamen, pallidum, thalamus, subthalamus, cerebellar dentate nucleus and brainstem are affected to various extents. Histological features include achromatic, ballooned neurons as well as tau and Gallyas positive neuronal and glial intracytoplasmic inclusions. Astrocytic plaque is considered to be a form of glial inclusions specific to CBD. Diagnosis of typical cases of CBD appears easy but atypical cases were reported with showed dementia or aphasia as a main feature, or were devoid of the asymmetry of signs and symptoms. CBD, progressive supranuclear palsy and Pick's disease share both clinical and neuropathological features to some extent while they are clearly distinct among typical cases. The etiology and pathomechanism of CBD remain to be elucidated.
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PMID:[Corticobasal degeneration]. 957 68

Skeins or skein-like inclusions (SLIs) in motor neurons detected by ubiquitin immunohistochemistry are a characteristic finding of amyotrophic lateral sclerosis (ALS). Here we report ubiquitinated SLIs in the putamen and caudate nucleus from a case of ALS with dementia. A 48-year-old Japanese man developed apathy and amimia. Mental and neurological examinations revealed severe character change, muscle atrophy and fasciculation of the distal upper extremities and the tongue, and an exaggeration of the deep tendon reflex. He subsequently showed dysphagia and dysarthria. He died at the age of 51 years, after a total clinical course of about 2.5 years. By immunohistochemistry, ubiquitin-immunoreactive intraneuronal inclusions were observed in the spinal anterior horn cells, the frontal, temporal and entorhinal cortices, dentate fascia of the hippocampus and the amygdala. In addition, ubiquitinated inclusions were also seen in the putamen and caudate nucleus, which appeared as aggregates of thread-like structures similar to SLIs in the spinal anterior horn neurons. They were not seen on hematoxylin-eosin staining, and they also did not show any argentophilia nor did they react with other antibodies, including antibody against tau protein. To our knowledge, this is the first report of the presence of SLIs in non-motor neurons. Our results thus support the notion that ALS is a multisystem disease, and not simply a disease of the motor neurons.
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PMID:Skein-like inclusions in the neostriatum from a case of amyotrophic lateral sclerosis with dementia. 982 21

Two patients presenting with progressive dysarthria as the single initial manifestation of a neurodegenerative condition are described. The nature of the dysarthria as well as the additional symptoms that developed in the course of the disorder are very different in these two cases. Nevertheless, neuroimaging findings are strikingly similar and suggest bilateral involvement of posterior inferior frontal lobe structures, mainly in the dominant cerebral hemisphere. The clinical syndrome of these patients can therefore be considered an example of frontotemporal degeneration presenting without dementia or compartmental alteration, at least in the early stages. This broadens the clinical spectrum of frontotemporal degeneration and demonstrates the need for a syndromal subclassification of this nosological entity.
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PMID:Progressive dysarthria. Case reports and a review of the literature. 1032 52

We report a 49-year-old female with hereditary ceruloplasmin deficiency with hemosiderosis. There was a family history of the same symptoms; her brother showed hypoceruloplasminemia and decrease of the serum copper content. On physical examinations, dementia, dysarthria, downbeat nystagmus, sensorineural hearing disturbance, orthostatic hypotension, retinitis pigmentosa, diffuse goiter, and cerebellar ataxia were noted. Laboratory examinations disclosed leukopenia, diabetes mellitus, hypothyroidism, decrease of copper content in the serum and urine. Serum ferritin concentration was remarkably increased. Serum ceruloplasmin could not be detected. Biopsy of the liver showed that iron content in the liver was increased. On MRI study, dentate nucleus of the cerebellum, basal ganglia, and the liver showed low intensity in both T1 and T2 weighted images. A nonsense mutation in the ceruloplasmin gene was found in this patient. Systemic iron deposition and tissue damage were considered as caused by deficiency of function of ceruloplasmin as ferroxidase. To our knowledge, the characteristic combination of the clinical signs in this patient has not been reported.
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PMID:[A case of hereditary ceruloplasmin deficiency with hemosiderosis]. 1039 Oct 79

Mr. Duffy is 83 years old and is admitted to rehabilitation 4 weeks after a right thalamic cerebral vascular accident (CVA). He has dysphagia, dysarthria, left hemiplegia, and is moderately-severely confused. He pulls out his nasogastric feeding tube and his physician decides not to reinsert it because of significant nasal tissue necrosis. The team recommends a gastrostomy tube for nutrition because of Mr. Duffy's lack of alertness and high risk for aspiration. Mr. Duffy has a Living Will that states he does not wish to have his life sustained with a feeding tube. He does not have a formal Durable Power of Attorney for Health Care. His wife has dementia and their daughters are making decisions for both parents. They are not sure about his wishes in this particular circumstance, but report that he said of a relative who died of cancer, "things went on too long because of that feeding tube." After 3 days, Mr. Duffy is more alert, and during a discussion about tube feedings he says, "I'll go for the works." His fluctuating alertness level prevents him from responding to this question again. His daughters feel he would not want the tube and suggest waiting to see if his swallowing improves in the next week before making a decision.
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PMID:Interpreting a living will after stroke. 1042 Jun 59

The authors report the underestimated cognitive, mood, and behavioral complications in patients who have undergone bilateral contemporaneous pallidotomy, as seen in their early experience with functional neurosurgery for Parkinson's disease (PD) that is accompanied by severe motor fluctuations before pallidal stimulation. Four patients, not suffering from dementia, with advanced (Hoehn and Yahr Stages III-IV), medically untreatable PD featuring severe "on-off" fluctuations underwent bilateral contemporaneous posteroventral pallidotomy (PVP). All patients were evaluated according to the Core Assessment Program for Intracerebral Transplantations (CAPIT) protocol without positron emission tomography scans but with additional neuropsychological cognitive, mood, and behavior testing. For the first 3 to 6 months postoperatively, all patients showed a mean improvement of motor scores on the Unified Parkinson's Disease Rating Scale (UPDRS), in the best "on" (21%) and worst "off" (40%) UPDRS III motor subscale, a mean 30% improvement in the UPDRS II activities of daily living (ADL) subscore, and 60% on the UPDRS IV complications of treatment subscale. Dyskinesia disappeared almost completely, and the mean daily duration of the off time was reduced by an average of 60%. Despite these good results in the CAPIT scores, one patient experienced a partially regressive corticobulbar syndrome with dysphagia, dysarthria, and increased drooling. No emotional lability was found in this patient, but he did demonstrate severe bilateral postoperative pretarsal blepharospasm (apraxia of eyelid opening), which interfered with walking and which required treatment with high-dose subcutaneous injections of botulinum toxin. No patient showed visual field defects or hemiparesis, but postoperative depression, changes in personality, behavior, and executive functions were seen in two individuals. Postoperative abulia was reported by the family of one patient, who lost his preoperative aggressiveness and drive in terms of ADL, speech, business, family life, and hobbies, and became more sleepy and fatigued. One patient reported postoperative mental automatisms, such as compulsive mental counting, and circular thoughts and reasoning during off phases; postoperative depression was found in two patients. However, none of the patients demonstrated these symptoms during intraoperative microelectrode stimulation. These findings are compatible with previous reports on bilateral pallidal lesions. A progressive lowering of UPDRS subscores was seen after 12 months, consistent with the progression of the disease. Bilateral simultaneous pallidotomy may be followed by emotional, behavioral, and cognitive deficits such as depression, obsessive-compulsive disorders, and loss of psychic autoactivation-abulia, as well as disabling corticobulbar dysfunction and apraxia of eyelid opening, in addition to previously described motor and visual field deficits, which make this surgery undesirable even though significant improvement in motor deficits can be achieved.
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PMID:Bilateral contemporaneous posteroventral pallidotomy for the treatment of Parkinson's disease: neuropsychological and neurological side effects. Report of four cases and review of the literature. 1070 52


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