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)

A 55-year-old man presented with fever, malaise, dysarthria, and intermittent twitching of his right hand. He progressed rapidly to aphasia, intractable myoclonic seizures, and unresponsiveness. Magnetic resonance imaging (MRI) of the head demonstrated multiple nonenhancing areas of signal abnormality involving the cortex of both cerebral hemispheres. Extensive evaluation revealed no infectious cause for his symptoms. Muscle acetylcholine receptor binding and modulating antibodies, striational antibodies, and a neuronal autoantibody specific for collapsin response-mediator protein were detected. An invasive thymoma was discovered and resected. Brain biopsy revealed microglial activation, gliosis, and scant perivascular lymphocytic inflammation. His condition worsened despite treatment with anticonvulsants, intravenous corticosteroids, and antimicrobials. Plasma exchange was performed. The myoclonus stopped; he regained consciousness and gradually improved to the point that he could talk and ambulate with assistance. An MRI revealed regression of the lesions with residual cortical atrophy. This case demonstrates that paraneoplastic encephalitis may occur with thymoma and may extend to cortical regions outside the limbic system.
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PMID:Fulminant autoimmune cortical encephalitis associated with thymoma treated with plasma exchange. 1112 43

Following a dramatic change of its reported incidence, it was only recently recognized that acquired crossed aphasia in dextral children represents a highly exceptional phenomenon. We describe in a three epoch time-frame model the aphasic and neurocognitive manifestations of an additional case and focus briefly on its anatomoclinical configurations. In our patient, a right parietal cortico-subcortical hemorrhagic lesion caused an initially severe aphasia. After remission of the global aphasic symptoms in the acute phase, an adynamic output disorder with relatively severe auditory-verbal comprehension disturbances developed. In addition to the adynamia of self-generated speech, formal language investigations performed 3 weeks postonset, revealed agrammatism, hypertonic dysarthria, and dysprosodia. A substantial improvement of the aphasic disorder was objectified 83 days postonset. Neuropsychological investigations disclosed both dominant and nondominant hemisphere dysfunctions. Reassessment of neurocognitive functions after a 10-year period evidenced discrete residual anomia, confined to visual confrontational naming and a discrete visuo-perceptual syndrome. Given the posterior localization of the lesion, the syndrome shift from global to predominantly adynamic aphasia represents a finding beyond the plausible anatomoclinical expectations holding in general for the uncrossed, classic types of childhood and adult aphasia. As the first representative of crossed aphasia in dextral children with an anomalous lesion-aphasia profile, our case provides evidence to enrich the discussion on lateralization and intrahemispherical organization of language functions in both childhood and adult aphasia.
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PMID:Anomalous cerebral language organization: acquired crossed aphasia in a dextral child. 1125 55

We report a 68-year-old man with progressive speech disturbance and dementia. He was well until 1995, when he noted an onset of difficulty in speech. He was able to name simple objects and understand language, however, he showed great difficulty in spontaneous speech. In 1998, he visited our service. He was alert and oriented, but he showed moderate degree of dementia. He did not appear to have aphasia but he showed marked dysarthria and slurred speech. He showed limb-kinetic apraxia in his right hand. He showed moderate restriction in his vertical gaze, masked face, and dysphagia. He walked normally. No rigidity, ataxia, or abnormal involuntary movement was noted. He showed grasp response and he was bradykinetic. He was treated with levodopa without effect. His condition deteriorated slowly and he was admitted to our service because of fever on February 13, 1999. He was alert but almost mute. He was unable to look upward or downward. Oculocephalic response was preserved. Axial rigidity was noted but no limb rigidity was present. He walked with small steps. Retropulsion was present. Deep tendon reflexes were diminished and the plantar response was flexor bilaterally. Laboratory examinations were unremarkable and his fever went down within a few days by supportive treatment. He was discharged to his home, where his condition deteriorated further. He developed cardiopulmonary arrest on May 3, 1999 and was brought into ER again. Cardiopulmonary resuscitation was unsuccessful and he was pronounced dead at 7:30 in the morning on the same day. The patient was discussed in a neurological CPC. The chief discussant arrived at the conclusion that this patient had corticobasal degeneration. But he felt that the differential diagnosis from atypical progressive supranuclear palsy, in which cortical pathology and symptoms predominated as in corticobasal degeneration, would be extremely difficult. Most of the participants felt that this patient had corticobasal degeneration, but a few thought that he had atypical PSP. Post-mortem examination revealed asymmetric cortical atrophy, which was accentuated in the left motor cortical area. Microscopic examination of the precentral cortex revealed neuronal loss and gliosis. Ballooned neurons and astrocytic plaques were also seen. The substantia nigra showed marked neuronal loss. Neuropil threads were observed in the nigra. Those threads were positive for anti-tau immunohistochemistry. The internal segment of the globus pallidus, the subthalamic nucleus, and the cerebellar dentate nucleus showed mild to moderate neuronal loss. A few neurofibrillary tangle-positive neurons were seen in these structures. Neuropil threads were also seen throughout. Pathologic changes were consistent with the diagnosis of corticobasal degeneration. One of the participants pointed out that he was able to walk at the time when he was showing marked speech disturbance and limb-kinetic apraxia, which was rather unusual for PSP suggesting corticobasal degeneration.
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PMID:[A 68-year-old man with speech disturbance as the initial symptom followed by bradykinesia and dementia. Clinical conference]. 1144 73

CADASIL disease (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) was described in 1991 by Tourmier-Lasserve. Two years later the same authors described its association with chromosome 19; nonetheless, the mutations in gene Notch3 were not described until 1996. Clinical findings depend on the age at onset. The early form of the illness is found in young patients, generally less than 30 years old, and the main clinical manifestation is a migraine headache with subcortical lesions in the white matter, while in the later form ischemic events and behavioral symptoms are predominant. Anatomo-pathological findings in CADASIL include the presence of osmophilic granular deposits in vessel walls, skin, muscles and cerebral arteries. We present a patient with CADASIL and cavernous angioma. We studied a 40-year-old woman who underwent surgery for a left temporal-parietal cavernous angioma, with aphasia as the only symptom, two years before admission. Her family history showed that her father had suffered from vascular dementia. She was admitted to our hospital with right-side hemiparesis and dysarthria. A CT scan showed the presence of ischemic vascular lesions and former surgery sequelae. The duplex scan of the neck vessels and a transesophageal echocardiogram ruled out an embolic source. Laboratory tests including VDRL, HIV, prothrombotic profile and rheumatologic screening tests were normal. An MRI in T2W and FLAIR showed the presence of multiple subcortical cerebral lesions and hyperintensity in the white matter (leukoencephalopaty). We found a left acute putaminal-capsular infarct in the diffusion-MRI. The MRA was normal. Analysis of the cerebrospinal fluid was unremarkable. A molecular DNA test was performed, and a nucleotide substitution in position 583 in exon 4 of gene Notch3 was detected. This mutation was found only in CADASIL patients. The association with cavernous angioma has not been previously reported, and we believe that it was unrelated to CADASIL, either clinically or genetically. To our knowledge, this is the first case of CADASIL diagnosed by molecular DNA test in our country.
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PMID:[Cadasil: a case with molecular diagnosis]. 1196 50

We report a 71-year-old woman showing rapidly progressive non-fluent aphasia and dementia accompanied by motor neuron disease (MND). There was no family history of dementia or motor neuron disease. There was 10 months history of dysarthria and dysphagia. On examination, she showed profound difficulty in articulation. Her comprehension was impaired in that she was unable to obey three-stage command. Her written language was also impaired with phonological spelling errors, syntactic errors, and perseveration. Neuroradiological investigations showed atrophic changes and hypoperfusion of left temporal and bilateral parietal region revealed by MRI and SPECT, respectively. Her subsequent decline was rapid. It might be likely that aphasia is much more common in dementia with bulbar MND than is currently recognized because bulbar palsy might mask the language disorder.
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PMID:[A case of motor neuron disease with progressive aphasia and dementia]. 1235 85

Stroke is the main manifestation of cerebrovascular disease (CVD). Few studies report the insidious and progressive development of CVD. The aim of this study was the characterization of a CVD form without stroke in association with vascular subtypes and risk factors (VRF). From 105 CVD patients, 65 had stroke (62%), 13 of them had more than one stroke (20%), and 40 patients had a chronic progressive form (CPF) (38%). Mean evolution times up to maximum neurological deficiency were 1.57+/-0.94 and 344.25+/-210.96 days, respectively. Group results significantly associated with VRFs: hypertension (p=0.0046), hyperlipemia (p=0.0046) and atrial fibrillation (p=0.0173); with clinical manifestations: aphasia (p=0.0018), pyramidal syndrome (p=0.0000001) and small vessel disease (SVD) (p=0.0000001); and with MRI: bilateral infarctions (p=0.00009) and incomplete white matter lesions (IWMLs) (p=0.0061). Within the CPF group, dysarthria and complete infarctions were associated (p=0.00036). Most neurological disorders associated with CVD are related to CPF. The significant correlations of SVD, bilateral infarcts, IWMLs, dysarthria, several VRFs and the strong difference in evolution time up to maximum neurological deficiency values characterize CPF as a separate entity within CVD.
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PMID:Stroke vs. chronic progressive cerebrovascular disease: a magnetic resonance imaging study of symptomatic outpatients. 1241 59

Presented in this article is a discussion of current progress in behavioral, cognitive, and neuroanatomic definitions of apraxia of speech (AOS). A behavioral definition summarizes the speech symptoms that should be considered diagnostic of AOS with or without co-occurring aphasia and dysarthria. AOS is defined in cognitive terms as an impairment in the translation of phonological representations into specifications for articulation. Progress toward a neuroanatomic definition of AOS will rely on mapping the processes described by increasingly sophisticated cognitive models of normal speech production to the brain. The article describes criteria that have been proposed for differentiating apraxic from phonological and dysarthric disorders and suggests that syndrome-based approaches to the diagnosis of AOS may obscure important differences between individual presentations of apraxic disruption as well as similarities between AOS and other speech-language disorders.
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PMID:Diagnosis of AOS: definition and criteria. 1246 26

We report a 63-year-old right-handed Japanese man with progressive bulbar dysfunction and alexia of kanji (Japanese morphograms). He was well until his 62 years of age, when he noted difficulty of reading kanji, which was followed by disturbances in his speech. Reading of kana (Japanese phonograms) was preserved. He also showed naming difficulties with semantic memory loss for words, which were characterized for word meaning aphasia or semantic dementia. He showed dysarthria and mild dysphagia with atrophy and fasciculations of the tongue. The electromyographic studies disclosed diffuse neurogenic pattern. He was diagnosed as having bulbar type amyotrophic lateral sclerosis. Cranial magnetic resonance imaging and single-photon emission computed tomography revealed bilateral involvements of the temporal lobes. Our patient appeared to meet the clinical criteria for frontotemporal degeneration of motor neuron disease type, and is the first case of amyotrophic lateral sclerosis showing alexia of kanji and word meaning aphasia.
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PMID:[Amyotrophic lateral sclerosis presented with alexia of kanji and word meaning aphasia]. 1247 80

Based on clinical data, Geschwind assumed left hemisphere dominance of speech production to extend to the cortical representation of articulatory and phonatory functions at the motor cortex. This author suggested, furthermore, that the clinical observation of rapid recovery from articulatory impairments after damage to the left-sided corticobulbar tracts reflects compensatory activation of an alternative pathway involving the contralateral pre-central gyrus and its efferent projections. In order to test this hypothesis, functional magnetic resonance imaging (fMRI) was performed 4 and 35 days after stroke in a 38-year-old man who had experienced sudden speech deterioration ('dysarthric speech') concomitant with weakness of the right upper limb and the right side of the face. Computerized tomography demonstrated an ischaemic infarction within the left internal capsule. The patient fully recovered from dysarthria within 9 days. Activation of the right hemisphere analogues of Broca and Wernicke areas has been assumed to contribute to recovery from aphasia. As a further aspect of the reorganization of speech function, the present case study demonstrates for the first time by means of fMRI a selective 'shift' of the cortical representation of speech motor control to the right Rolandic cortex and the left cerebellum during restitution of articulation in a case of transient dysarthria following infarction of the left internal capsule.
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PMID:Reorganization of speech production at the motor cortex and cerebellum following capsular infarction: a follow-up functional magnetic resonance imaging study. 1252 51

An 81-year-old right-handed woman was admitted because of acute dysarthria and left hemiparesis. She had lived herself without aids until the admission. On neurological examination she was confused and disoriented. She was ambulant, but had mild dysarthria and mild left hemiparesis. Neuropsychological tests showed severe impairment of memory, mild impairment of visual cognition, decreased fluency of word recall and mild paramnesia, but no acalculia, agraphia, aphasia or apraxia. MRI of the brain showed small infarction in the right anterior thalamus. 123I-IMP SPECT demonstrated a decrease in CBF of the thalamus, basal ganglia and frontal lobe on the right. During admission, she always played with a doll as if she took it as a real baby. This peculiar symptom. "doll phenomenon" continued for approximately three months later. The "doll phenomenon" usually appears in demented patients with diffuse mental deterioration or dysfunction of the frontal lobe. The present patient had not been demented until the onset of the thalamic infarction, and disturbance of cognition caused by the right thalamic infarction probably produced the "doll phenomenon".
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PMID:[Non-persistent "doll phenomenon" in a patient with right thalamic infarction]. 1273 79


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