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)

This study is the third in a series that has explored the source of intelligibility decrement in dysarthria by jointly considering signal characteristics and the cognitive-perceptual processes employed by listeners. A paradigm of lexical boundary error analysis was used to examine this interface by manipulating listener constraints with a brief familiarization procedure. If familiarization allows listeners to extract relevant segmental and suprasegmental information from dysarthric speech, they should obtain higher intelligibility scores than nonfamiliarized listeners, and their lexical boundary error patterns should approximate those obtained in misperceptions of normal speech. Listeners transcribed phrases produced by speakers with either hypokinetic or ataxic dysarthria after being familiarized with other phrases produced by these speakers. Data were compared to those of nonfamiliarized listeners [Liss et al., J. Acoust. Soc. Am. 107, 3415-3424 (2000)]. The familiarized groups obtained higher intelligibility scores than nonfamiliarized groups, and the effects were greater when the dysarthria type of the familiarization procedure matched the dysarthria type of the transcription task. Remarkably, no differences in lexical boundary error patterns were discovered between the familiarized and nonfamiliarized groups. Transcribers of the ataxic speech appeared to have difficulty distinguishing strong and weak syllables in spite of the familiarization. Results suggest that intelligibility decrements arise from the perceptual challenges posed by the degraded segmental and suprasegmental aspects of the signal, but that this type of familiarization process may differentially facilitate mapping segmental information onto existing phonological categories.
J Acoust Soc Am 2002 Dec
PMID:The effects of familiarization on intelligibility and lexical segmentation in hypokinetic and ataxic dysarthria. 1250 24

A 58-year-old male presented with a dissecting aneurysm of the basilar artery manifesting as dysarthria, left hemiparesis, and numbness of the left side. Angiography revealed a double lumen at the midportion of the basilar artery which was consistent with a diagnosis of dissecting basilar artery aneurysm. The patient was treated conservatively, and remained neurologically stable for a 5-year period following initial presentation, but serial magnetic resonance imaging revealed growth of the aneurysm compressing the brain stem. His condition then worsened. Computed tomography revealed obstructive hydrocephalus. Ventriculoperitoneal shunting was performed and the patient's symptoms improved. However, he died of subarachnoid hemorrhage. Autopsy showed the patient had had a type 3 "dolichoectatic dissecting aneurysm." Surgical treatment should be seriously considered for treating the patients with dissecting basilar artery aneurysm causing brain stem ischemia, especially if the aneurysm is growing. High-flow bypass and proximal occlusion may be the choice in patients with poor collateral circulations.
Neurol Med Chir (Tokyo) 2002 Dec
PMID:Dissecting basilar artery aneurysm growing during long-term follow up--case report. 1251 29

We sought clinical and radiological findings of 150 consecutive patients with acute isolated pontine infarct who were admitted to our Stroke Unit over 6 years. In all patients CT, MRI and magnetic resonance angiography (MRA) were performed during the hospitalization. On clinico-radiological analysis regarding the pontine lesion boundaries there were five main clinical patterns that depended on the constant territories of intrinsic pontine arteries: (1). anteromedial pontine syndrome (58%) presented with motor deficit with dysarthria, ataxia, and mild tegmental signs in one third of patients; (2). anterolateral pontine syndrome (17%) developed with motor and sensory deficits in half of the patients, and were associated with tegmental signs (56%) more frequently than the anteromedial infarct syndrome; (3). tegmental pontine syndrome (10%) presented with mild motor deficits and associated with sensory syndromes, eye movement disorders and vestibular system symptoms including vertigo, dizziness and ataxia; (4). bilateral pontine syndrome (11%) consisted with transient consciousness loss, tetraparesis and acute pseudobulbar palsy; (5). unilateral multiple pontine infarcts (4%) were rarely observed, and were always associated with severe sensory-motor deficits and tegmental signs. In our series, there was no infarct in the extreme dorsal and lateral tegmental pontine territories which have been mostly associated with cerebellar infarctions. The main etiology of stroke was basilar artery branch disease (BABD) in 59 patients (39%), followed by small-artery disease (SAD) in 31 (21%), large-artery disease of vertebrobasilar arteries in 27 patients (18%), cardioembolism in 12 (8%) and in 16 patients (11%) no cause of stroke was found. Our findings suggest that it is possible to identify clinical subgroups of pontine infarction, in which BABD and SAD were the most common causes of stroke. After an acute onset, outcome is in general excellent except in those with bilateral pontine lesions.
J Neurol 2002 Dec
PMID:Clinical spectrum of pontine infarction. Clinical-MRI correlations. 1252 87

This report concerns an autopsy case of amyotrophic lateral sclerosis (ALS) with circumscribed temporal atrophy. The patient was a Japanese woman without hereditary burden who was 71-year-old at the time of death. She developed dysarthria and gait disturbance at age 69, followed by dysphagia. A neurological examination about 1 year 11 months after the onset of the disease revealed absence of character change and of dementia. Neuroradiological examination disclosed circumscribed atrophy of the anterior part of the right temporal lobe. The patient died of respiratory failure 2 years after the disease onset. No respirator administration was performed throughout the clinical course. Macroscopically, neuropathological examination showed circumscribed atrophy of the right first temporal gyrus. Histologically, there was neuronal loss in the cerebral cortex, including the first temporal gyrus, the parahippocampal gyrus, subiculum, amygdala, substantia nigra, brain stem motor nuclei, and anterior horns of the spinal cord, in addition to loss of Betz cells, obvious degeneration of the pyramidal tracts, and the presence of Bunina bodies. Ubiquitin-immunoreactive intraneuronal inclusions were present in the hippocampal dentate granular cells, frontotemporal cortical layer II neurons, and motor neurons in the brain stem and spinal cord. Based on these clinicopathological findings and a review of the literature, we concluded that our case was atypical ALS without dementia, showing temporal lobe atrophy macroscopically, in addition to pathological hallmarks compatible with ALS with dementia. We also note the possibility that there is a forme fruste of ALS with dementia showing no overt dementia clinically.
Neuropathology 2002 Dec
PMID:Sporadic amyotrophic lateral sclerosis with circumscribed temporal atrophy: a report of an autopsy case without dementia and with ubiquitinated intraneuronal inclusions. 1256 72

We report a 66-year-old woman who developed mental deterioration in her school days, and progressive gait disturbance, dysarthria and bradykinesia in her 40 s. Her parents were consanguineous, and the two of her brothers were suspected to have the allied disorder. On physical examination, she was short-statured and high-arched palate was observed. Neurological examination revealed dementia, abnormal eye movement, dysarthria, spastic paraparesis with hyperreflexia, bilateral Babinski signs, cerebellar ataxia and dysuria. Brain MRI showed marked hypoplasia of corpus callosum with dilatation of lateral ventricles and cerebral sulci and significant cerebellar atrophy. Amino acid analyses showed significant elevation of glycine without ketosis in serum, cerebrospinal fluid, and urine, which lead us to the diagnosis of late-onset nonketotic hyperglycinemia(NKH). NKH is known to be a rare autosomal recessive metabolic disorder primarily caused by deficient activity of various components of the mitochondrial glycine cleavage system. Onset of the disease occurs most often in early infancy, however, later-onset variants have been described. Usually, late-onset NKH only manifests mild mental deterioration, character change, seizure, ataxia or spastic paraparesis, which sometimes makes difficulty in differentiating this disease from other hereditary cerebellar ataxia or spastic paraparesis. In addition, many structural brain abnormalities have been reported accompanied with NKH, and especially, agenesis or hypoplasia of corpus callosum is the most characteristic feature in this disease. Therefore, we emphasized that amino acid analyses should be considered in any patients who have cerebellar ataxia or spastic paraparesis of unknown cause with these neuroradiological findings.
No To Shinkei 2002 Dec
PMID:[Late-onset nonketotic hyperglycinemia: a case report]. 1259 24

Bismuth (Bi) is used for the treatment of different gastrointestinal symptoms and disorders such as gastric ulcers. In Germany, Bi medication is available without prescription as over-the-counter-medication even though it can cause severe myoclonic encephalopathy if ingested chronically in high doses. We report a 49 year-old woman with chronic gastric ulcers and 5 years of Bi abuse who developed the typical clinical course of Bi encephalopathy. She presented with progressive dementia, dysarthria and myoclonic jerks one week after increasing the Bi dosage. The EEG showed generalized spike-wave complexes suggesting that the myoclonus was epileptic in nature. Bi intake was stopped and valproate was given, which decreased the frequency of the myoclonic jerks. Administration of the metal chelator D,L-2,3-dimercaptopropane- 1-sulfonic acid (DMPS) led to increased urine excretion of Bi, but was accompanied by a clinical deterioration which resulted in it being discontinued. The subsequent clinical recovery of the patient was documented over 40 days by EEG, video and neuropsychological testing. A time lag of two weeks was observed between falling plasma levels and clinical improvement. In conclusion, Bi-induced encephalopathy is a differential diagnosis for myoclonic encephalopathies. Treatment with metal chelators may aggravate the encephalopathy. The over-the-counter availability of medications containing Bi should be questioned. (Published with video sequence.)
Epileptic Disord 2002 Dec
PMID:Myoclonic encephalopathy caused by chronic bismuth abuse. 1260 Aug 8

Seizures are an uncommon but serious complication of hyponatremia which can lead to permanent brain damage and even death. It is recommended that patients with hyponatremic-induced seizures be treated with 3% hypertonic saline, however, a rapid rate of correction may result in central pontine myelinolysis (CPM), a severe neurological disorder characterized by mutism, dysarthria, spastic quadriparesis, and pseudobulbar palsy. The patient in this case developed a hyponatremia-induced generalized tonic-clonic seizure which was aborted by rapid therapy with diazepam, followed by hypertonic saline and phenytoin. Subsequent replacement of hypertonic saline with normal saline and salt tabs in combination with phenytoin allowed gradual correction of serum sodium without any subsequent seizures or neurological complications.
Hawaii Med J 2002 Dec
PMID:Therapy with hypertonic saline in combination with anti-convulsants for hyponatremia-induced seizure: a case report and review of the literature. 1263 26

We assessed health-related quality of life (QoL) of patients with progressive supranuclear palsy (PSP), identified the most important QoL issues in patients with this disorder, and assessed the usefulness of existing QoL measures in patients with PSP. Twenty-seven patients in all stages of PSP and their carers underwent a semistructured in-depth interview on the impact of PSP and a neurological examination. They were also asked to complete existing measures of QoL and depression. An item-pool of issues relevant to QoL of patients with PSP was created from the patient and carer interviews. Carers and patients largely agreed on issues relevant for patients' QoL but more carers than patients considered symptoms of frontal lobe dysfunction as problematic for the patients. There was no association of QoL with age and gender, as assessed in interviews and on two QoL instruments. QoL deteriorated with increasing disease duration and severity and greater cognitive impairment and was associated with worse depression scores. While the generic SF-36 was not found to be useful to assess QoL in PSP, feasibility and validity for the PDQ-39 and the EQ-5D were acceptable in this study. However, additional issues relevant to patients with PSP that were not addressed in these instruments included visual disturbances, dysarthria, dysphagia, muddled thinking, confusion, and apathy. The generic EQ-5D and the Parkinson's disease-specific PDQ-39 are useful instruments to assess QoL in patients with PSP. However, they lack questions on important aspects of QoL in PSP that were reported by patients and carers in semistructured interviews. The item pool created in these interviews provides the basis for the development of disease-specific QoL instruments for patients with PSP.
Mov Disord 2003 Dec
PMID:Health-related quality of life in patients with progressive supranuclear palsy. 1467 83

We report on a patient with Parkinson's disease (PD) who was moderately improved by stimulation of the subthalamic nucleus (STN) and died 2 years after electrode implantation. After neurosurgery, symptoms that had responded to levodopa treatment preoperatively continued to improve. Postural instability, dysarthria, and cognitive impairment continued to worsen, despite STN stimulation and levodopa treatment. Postmortem examination of the brain confirmed the diagnosis of PD and showed that the electrodes had been correctly positioned within the STN. The failure of STN stimulation in this patient confirms the importance of screening and excluding patients from surgery with evolving parkinsonian axial symptoms or cognitive impairment.
Mov Disord 2003 Dec
PMID:Parkinson's disease, subthalamic stimulation, and selection of candidates: a pathological study. 1467 89

Episodic ataxia type 2 (EA2) is a dominantly inherited disorder, characterized by spells of ataxia, dysarthria, vertigo, and migraines, associated with mutations in the neuronal calcium-channel gene CACNA1A. Ataxic spells lasting minutes to hours are provoked by stress, exercise, or alcohol. Some patients exhibit nystagmus between spells and some develop progressive ataxia later in life. At least 21 distinct CACNA1A mutations have been identified in EA2. The clinical and genetic complexities of EA2 have offered few insights into the underlying pathogenic mechanisms for this disorder. We identified a novel EA2 kindred in which members had ataxic spells induced by fevers or high environmental temperature. We identified a novel CACNA1A mutation (nucleotides 1253+1 G-->A) that was present in all subjects with febrile spells or ataxia. Moreover, we found that, regardless of age or interictal clinical status, all affected subjects had objective evidence of abnormal saccades, ocular fixation, and postural stability. These findings suggest that early cerebellar dysfunction in EA2 results from the intrinsically abnormal properties of the CACNA1A channel rather than a degenerative process.
Ann Neurol 2003 Dec
PMID:Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. 1468 82


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