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 68-year-old right-handed woman was admitted to Tokyo Metropolitan Geriatric Hospital because of slowly progressive dysarthria and writing disability over 2-year period. On admission, severe dysarthria was observed, but no dysphagia. The dysarthria mostly resembled a type of pseudobulbar palsy, although it was associated with effortful speech production. An oro-facial apraxia was also found. She could name objects, and could understand spoken words correctly. Examination using the Western Aphasia Battery showed diminution of word fluency, impaired repetition and perseveration and writing errors. On the Wechsler Adult Intelligence Scale-R verbal IQ was 100 and performance IQ was 87. These scores did not suggest any significant degree of general intellectual deterioration. Wisconsin card sorting test disclosed mild frontal dysfunction. Magnetic resonance imaging showed cortical atrophy in the bilateral frontal and temporal lobes. Measurements of regional cerebral metabolic rate by 18F-FDG-PET demonstrated decreased uptake in the latero-dorso-inferior area of the bilateral frontal lobes, especially on the left side. The present case showed slowly progressive dysarthria and progressive aphasia without generalized dementia, and without typical aphasia. These symptoms are speculated to be related to the atrophy in the bilateral frontal and temporal lobes shown by MRI and the decreased metabolic rate in the left dominant bilateral frontal lobes on PET study. The pathologic process responsible for these lesions remains obscure.
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PMID:[Slowly progressive dysarthria and impaired language function--a case report]. 128 97

We reported a 67-year-old male, who suffered from apraxia and amnesia for 2 years and for muscle rigidity of right extremities for a year. Neurological examination revealed dysarthria, dysphagia, marked dystonia of right arm, hyperreflexia of all limbs and ataxic gait. He also had dementia and many other higher cortical dysfunction mostly due to left hemisphere damage. No impairment of eye movement was disclosed. Brain MRI as well as CT showed the significant brain atrophy in the left parieto-occipital region. A degenerative atrophy was suspected by 123I-IMP-SPECT and 18F-FDG-PET. By FDG-PET, the decrease of cerebral blood flow and glucose metabolism was detected not only affected unilateral cerebral cortex including primary motor area but ipsilateral basal ganglia and thalamus. Although, it is difficult to distinguish clinically CBD from atypical case of Alzheimer's disease, we speculated that in early stage of dementia, significant unilateral hypoperfusion and hypometabolism of basal ganglia and thalamus is characteristic of CBD.
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PMID:[Clinically diagnosed corticobasal degeneration (CBD)]. 833 74

Pallido-luysio-nigral atrophy (PLNA) is a rare neurodegenerative disease in which the clinical and radiologic correlates have not yet been clearly established. A 62-year-old man insidiously developed dystonic postures, choreoathetoid movements, slowness, and stiffness, which initially affected the right hand and foot and progressively spread to the entire right side. T2-weighted magnetic resonance imaging showed increased signal intensity in both left and right medial pallida and in the left substantia nigra. Tests using HMPAO-SPECT and FDG-PET demonstrated left cortical hyperperfusion and hypermetabolism, whereas the left lenticular nucleus was slightly hypometabolic. At age 65, abnormal movements and postures involved all four limbs and the axis causing major gait disturbances, and facial and bulbar muscles atrophied resulting in dysarthria, dysphagia, and impaired breathing. Diffuse amyotrophy and fasciculations also appeared. Death occurred at age 66, 4 years after onset. At autopsy, severe bilateral neuronal loss and gliosis restricted to the pallidum, the subthalamic nucleus, the substantia nigra, and the hypoglossal nucleus were noted, accounting for the diagnosis of PLNA with lower motor neuron involvement. Progressive hemidystonia with adult onset represents an unusual clinical presentation for this disorder. Moreover, this observation indicates that a diagnosis of PLNA should be considered for specific magnetic resonance imaging, SPECT, and/or PET data, and suggests that in PLNA, pallidal dysfunction might play a key role in the dystonic presentation.
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PMID:Pallido-Luysio-Nigral atrophy revealed by rapidly progressive hemidystonia: a clinical, radiologic, functional, and neuropathologic study. 1100 3

We reported a patient with middle-aged onset sialidosis type I. A 52-year-old Japanese man was referred to our hospital because of dysarthria, involuntary movement of his extremities and gait disturbance since the age of 46 years. On admission, neurological examination revealed scanning speech, action myoclonus, cerebellar ataxia and cherry-red spots. Vacuolated lymphocytes were found in peripheral blood. Brain 18F-2-fluoro-2-deoxy-D-glucose positron emission tomography (18F-FDG PET) showed decreased glucose metabolism in the cerebellum. Enzymological analysis using his skin fibroblasts revealed primary deficiency of sialidase activity. Sialidase gene analysis identified compound heterozygotes for base substitusions of 239T-to-C and 649G-to-A, which resulted in amino acid alterations of P80L and V217M, respectively. These mutations have been reported in Japanese sialidosis type II (P80L) and I (V217M). Further studies are required to reveal effects of gene mutations on residual enzyme activities and phenotypes.
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PMID:[A case of middle-aged onset sialidosis type I]. 1547 Oct 91

A 35-year-old female ingested a lethal dose of potassium cyanide in a suicide attempt. She survived following antidote therapy and intensive care. Following artificial coma she presented with an agitative state for several days followed by akinetic mutism, buccofacial and ideomotoric aphasia. Severe rigid-akinetic syndrome, dysarthria, dysphagia and generalized dystonia developed weeks later. MRI revealed lesions in the caudate and lentiform nuclei, precentral cortex, and cerebellum. SPECT by [123-I] 2 beta-carbomethoxy-3-beta-(4-iodophenyl)-Tropan on two occasions revealed progressive loss of dopamine transporter suggestive of nigral neuronal apoptosis. Striatal and frontal hypometabolism and hypoperfusion were found by FDG-PET and HMPAO SPECT.
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PMID:Cyanide-induced akinetic rigid syndrome: clinical, MRI, FDG-PET, beta-CIT and HMPAO SPECT findings. 1573 73

October 2004. A 49-year-old right-handed man developed progressive cognitive difficulties over a 4-month period. There was impairment in recent memory, calculations and language. He also developed fatigue, weight loss, gait imbalance and urinary incontinence. Past history included transfusion-associated Hepatitis C. Neurologic exam showed mild dysarthria, dysnomia, left sided neglect, bilateral Babinski signs, and a prominent grasp reflex. Laboratory testing provided no positive etiologic data. An EEG showed generalized intermittent slowing suggestive of a diffuse encephalopathy and decreased background in the right hemisphere, suggestive of a structural lesion. MRI showed multiple areas of high signal on FLAIR imaging and patchy enhancement. FDG-PET showed multi-focal areas of increased uptake, correlating with the abnormal areas on MRI, on a background of decreased uptake. A 4-vessel cerebral angiogram showed no abnormalities. A brain biopsy showed diffuse infiltrates of large malignant cells that were immunoreactive with antibodies to CD20, diagnostic of diffuse large B cell lymphoma. In summary, the clinical presentation suggested bilateral hemispheric involvement, which was supported by physical examination, EEG, MRI, and PET scans. The differential diagnosis for this presentation is limited to demyelinating disease such as multiple sclerosis, vascular dementia, and infiltrating neoplasm such as glioblastoma multiforme or lymphoma. Diagnosis was made by morphologic and immunohistochemical analysis of brain tissue.
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PMID:October 2004: a 49-year-old man with progressive dementia. 1591 74

A 38-year-old man gradually developed gait instability, dysarthria, and dysphagia over two months associated with an elevated blood pressure after starting hemodialysis therapy for diabetic nephropathy. Brain MRI studies indicated vasogenic edema in the brainstem, extending from the lower midbrain to the upper medulla oblongata. The patient's high blood pressure was refractory to treatment, and his neurological disabilities and MRI abnormalities progressed. FDG-PET, MR spectroscopy, and cerebrospinal fluid studies did not suggest neoplastic pathologies. The patient was diagnosed with a brainstem variant of reversible posterior leukoencephalopathy syndrome, and received three courses of steroid pulse therapy. After the pulse therapy, the clinical manifestations and MR findings improved. By maintaining strict management of blood pressure and body water balance during hemodialysis, he did not experience any further clinical exacerbation, and the lesion on MR images continued to regress. Ten months after the pulse therapy, T1-weighted images showed slightly hyperintense signal. This case suggests that reversible posterior leukoencephalopathy syndrome (RPLS) may take a chronic clinical course without acute onset.
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PMID:[Brainstem variant of reversible posterior leukoencephalopathy syndrome with a prolonged clinical course: a case report]. 1908 30

A 62-year-old man was admitted to our hospital because of rapidly progressive dysarthria, truncal ataxia, and gait disturbance. High titers of the ProGRP and anti-P/Q-type VGCC antibody were detected in the serum. High accumulation of [18F] was detected at the hilus of the left lung on [18F]-FDG-PET scan. A high-frequency repetitive stimulation test of the median nerve yielded an incremental response. On the basis of these findings, a diagnosis of paraneoplastic cerebellar degeneration (PCD) and Lambert-Eaton myasthenic syndrome (LEMS) associated with small cell lung carcinoma (SCLC) was diagnosed. After intravenous immunoglobulin therapy (IVIg), methylprednisolone (m-PSL) pulse therapy, and other multidisciplinary concurrent treatments, a partial regression of the SCLC and a significant improvement in neurological symptoms were observed. However, ataxia relapsed and brainstem encephalitis developed 6 months later. A marginal improvement in neurological symptoms was observed with IVIg, m-PSL pulse therapy, and intravenous cyclophosphamide pulse therapy (IVCY). SCLC also recurred later. We hypothesized that VGCC of the brainstem was damaged by anti-P/Q-type VGCC antibody.
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PMID:[Case of anti P/Q type VGCC antibody positive small lung cell carcinoma that occured with subacute cerebellar degeneration, Lambert-Eaton myasthenic syndrome, and brainstem encephalitis]. 1911 Jul 59

We report a five-year-old girl presenting with dysphagia, dysarthria, drooling, and generalized tonic convulsions in whom the final diagnosis was acquired epileptiform opercular syndrome. Levetiracetam monotherapy at a dosage of 40 mg/kg/day improved the clinical findings, and seizures were controlled at the end of the first month of treatment. Six months after the initial diagnosis, she presented with speech deterioration and dysarthria. At this time, although sleep and awake electroencephalography (EEG) were normal, FDG-PET showed hypometabolic and hypermetabolic regions in the anterior/inferior and anterior regions of the right frontal lobe, respectively. By increasing before levetiracetam dosage to 50 mg/kg/day, the clinical findings resolved and the patient is still seizure free. Acquired epileptiform opercular syndrome is a rare epileptic disorder in which the seizures are resistant to conventional antiepileptic drugs. Levetiracetam may be an effective antiepileptic drug in controlling seizures and other clinical findings in acquired opercular epileptiform syndrome. Hypometabolic and hypermetabolic regions in FDG-PET study may be due to ongoing seizure activity or impaired glucose metabolism in this disorder.
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PMID:Acquired epileptiform opercular syndrome: F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) findings and efficacy of levetiracetam therapy. 2298 81

A 65-year-old male patient was referred for rapid functional decline over 1 month with dysphagia and dysarthria. Past history disclosed left side weakness for 5 years. F FP-CIT PET/CT was performed to evaluate the possibility of pseudobulbar palsy. Images showed a defect in the right posterior putamen that was consistent with an old cerebral infarction lesion. Unexpectedly, an oval area of intense F FP-CIT uptake was found in the left frontal lobe. MRI and F-FDG PET/CT indicated the lesion to be caused by recent cerebral ischemia.
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PMID:Focal increased 18F FP-CIT uptake in a recent ischemic lesion in the frontal lobe. 2514 May 48


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