Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neurologic manifestations, afflicting up to 70% of SLE patients, include psychosis, seizures, chorea, neuropathies, and stroke. MRI is useful in evaluation of lupus patients and several reports have documented cerebral atrophy or focal hyperintensities. We report an unusual MRI appearance in a 56-year-old woman with SLE, diagnosed on the basis of pleuritis, lymphopenia, anti-DNA antibodies, and neurologic involvement. She reported recent onset of Raynaud's phenomenon and generalized macular rash. She presented after two months of gradual deterioration with memory loss, flattened affect, dysphagia, dysarthria, anomia, and somnolence, without focal neurologic signs. Investigations included elevated ESR, reduced complement, normal CSF without oligoclonal bands, negative viral serology, normal hormone and vitamin levels, normal renal and hepatic function. Neuropsychologic testing showed widespread impairment (WAIS-R: FSIQ-63; WMS-69; DRS-98; RCPM-14; WAB AQ-78.8). CT was normal but MRI showed strikingly symmetric, confluent hyperintensities extensively involving cerebral and cerebellar white matter on T1 and T2 weighted scans. Basal ganglia and subependymal and subcortical white matter were spared. Treated with prednisone, the patient made a gradual, but incomplete, recovery. These MRI findings may reflect widespread vasculopathy or direct immunologic brain insult with or without immunologic blood-brain barrier disruption.
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PMID:Dementia with leukoencephalopathy in systemic lupus erythematosus. 191 71

The experience of 500 transcranial Doppler (TCD) sonographies at Siriraj Hospital between April 1988- June 1989 were reported. The indications for TCD study were hemiplegia 156 (31.20%), vertigo 119 (23.80%), transient ischemic attack (TIA) 26 (5.20%), hemihypalgesia 14 (2.80%), dysarthria-dysphagia syndrome 13(2.60%), visual problem 13(2.60%), syncope 10(2.00%), memory loss 8(1.60%), aphasia 6(1.20%), carotid bruit 6(1.20%), miscellaneous (artereovenous malformation, aneurysm, arteritis, carotico-cavernous fistula, tinnitus, etc) 25(5.00%), and healthy subjects 92(18.4%). Abnormal TCD studies were found in various conditions of different percentages, i.e. 91.03 per cent in hemiplegia, 76.47 per cent in vertigo, 65.38 per cent in TIA, 71.43 per cent in hemihypalgesia, 61.54 per cent in dysarthria - dysphagia syndrome, 38.46 per cent in visual problem and 30.43 per cent in normal subject. TCD is noninvasive, safe and painless. It is a useful screening test for prophylaxis of cerebrovascular disease in the elderly.
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PMID:Transcranial Doppler ultrasonography: experience of 500 patients. 228 86

From a series of 460 dementia patients referred to a regional brain bank, 14 (3%) patients had a pathologic diagnosis of primary degeneration of the brain involving multiple sites (frontoparietal cortex, striatum, medial thalamus, substantia nigra, and hypoglossal nucleus), with cell loss and astrocytosis. There were no neuronal inclusions and essentially no senile plaques. This entity, which we have termed "dementia lacking distinctive histology" (DLDH), presented with memory loss and personality changes, and led to death, usually within 2 to 7 years. Dysarthria and dysphagia were prominent in the later phases of the illness in most patients. The psychometric findings of some of the patients were consistent with a "frontal" lobe dementia. A few patients had prominent caudate atrophy on CT as well as neuropathologically. Eight of our patients had positive family histories for neurologic disease, mainly dementia. DLDH, in addition to Pick's disease, is a major member of the frontal-lobe dementia group. In patients under age 70 years, the frontal lobe dementias represent an important diagnostic consideration.
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PMID:Dementia lacking distinctive histologic features: a common non-Alzheimer degenerative dementia. 230 Feb 43

We report a 70-year-old man with progressive gait disturbance and gaze palsy. The patient was well until summer of 1991 when he was 66-year-old, when he noted a gradual onset of difficulty in gait and looking downward. He was evaluated in our hospital in May, 1994 when he was 69-year-old. On admission, he was alert but markedly demented with disorientation and memory loss. Constructional apraxia and dressing apraxia were noted. He had difficulty in gaze to all directions; he could move his eyes only 20% of the normal range. Oculocephalic response was retained. He had small voice and some dysphagia. Other cranial nerves were unremarkable. He could not walk unsupported. Marked retropulsion was noted in which he would fell down spontaneously upon standing unless supported. Moderate to marked rigidity was noted in the neck, trunk, and in the legs, however, in the upper extremities, rigidity was only mild. No tremor was noted. Deep reflexes were symmetrically exaggerated with ankle clonus bilaterally. Plantar response was flexor. Sensation was intact. Routine laboratory tests were unremarkable, however, his cranial MRI showed moderate to marked fronto-temporal atrophy and moderate midbrain and pontine tegmental atrophy. The third ventricle was markedly dilated. He was discharged for out patient care, however, his dysphagia had become progressively worse, and he suffered from frequent bouts of pneumonia. He was admitted to our service on October 17, 1994. His neurologic examination was essentially similar except that he showed more advanced dementia. He was still able to stand with support. Gastrostomy was placed on October 25. Post-operative course was unremarkable. He was discharged on November 1. His motor disturbance showed gradual deterioration, and by the May of 1995, he became bed-ridden, and was admitted to another hospital on May 30, 1995. He was almost totally unable to move his eyes, but oculocephalic response was still elicited. Marked truncal and limb rigidity were noted. He vomited coffee-ground substance on October 31, 1995, and developed hypotension. The subsequent course was complicated by pneumonia and he expired on November 24. The patient was discussed in a neurological CPC. Majority of the participants thought that the patient had progressive supranuclear palsy, but some participants thought that the patient had corticobasal degeneration because cortical atrophy was so marked. Post mortem examination revealed atrophy of the frontal and parietal lobe. The brain stem was atrophic particularly in the tegmental area including the midbrain. The substantia nigra showed marked neuronal loss and globose type neurofibrillary tangles in the remaining neurons. The neurons in the locus coeruleus was well retained, however neurofibrillary tangles were seen. In addition, the cerebellar dentate nucleus, the inferior olivary nucleus, and the internal globus pallidus showed marked neuronal loss and neurofibrillary degeneration. In the frontal cortex, although macroscopic examination showed some atrophy, microscopic examination failed to show neuronal loss or gliosis. The pathologic findings were consistent with the diagnosis of progressive supranuclear palsy.
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PMID:[A 70-year-old man with a progressive gait disturbance and gaze palsy]. 902 10

An autosomal dominant presenile dementia affecting 39 individuals in a seven-generation, 383-member pedigree has been studied at Indiana University. In the affected members of this family, clinical symptoms occurred early in life, with an average age at onset of 48.8 years. The presenting clinical features include disequilibrium, neck stiffness, dysphagia, and memory loss. As the disease progresses, further cognitive decline, superior-gaze palsy, and dystaxia also are observed. The average duration from onset of symptoms to death is approximately 10 years. Neuropathologic studies of nine affected individuals showed neuronal loss in several areas of the CNS, as well as argentophilic tau-immunopositive inclusions in neurons and in oligodendroglia. A limited genomic screen by use of DNA samples from 28 family members localized the gene for this disorder to a 3-cM region on chromosome 17, between the markers THRA1 and D17S791. The gene for tau also was analyzed, through samples from the family.
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PMID:Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17. 934 89

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

Progressive external ophthalmoplegia (PEO) can be caused by a disorder characterized by multiple mitochondrial DNA (mtDNA) deletions due to mutations in the TWINKLE gene, encoding a mtDNA helicase. We describe a 71-year-old woman who had developed PEO at age 55 years. She had cataracts, diabetes, paresthesias, cognitive defects, memory problems, hearing loss, and sensory ataxia. She had muscle weakness with ragged red fibers on biopsy. MRI showed static white matter changes. A c.908G>A substitution (p.R303Q) in the TWINKLE gene was identified. Multiple mtDNA deletions were detected in muscle but not blood by a PCR-based method, but not by Southern blot analysis. MtDNA copy number was maintained in blood and muscle. A systematic literature search was used to identify the genotypic and phenotypic spectrum of dominant TWINKLE-related disease. Patients were adults with PEO and symptoms including myopathy, neuropathy, dysarthria or dysphagia, sensory ataxia, and parkinsonism. Diabetes, cataract, memory loss, hearing loss, and cardiac problems were infrequent. All reported mutations clustered between amino acids 303 and 508 with no mutations at the N-terminal half of the gene. The TWINKLE gene should be analyzed in adults with PEO even in the absence of mtDNA deletions in muscle on Southern blot analysis, and of a family history for PEO. The pathogenic mutations identified 5' beyond the linker region suggest a functional role for this part of the protein despite the absence of a primase function in humans. In our patient, the pathogenesis involved multiple mtDNA deletions without reduction in mtDNA copy number.
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PMID:Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. 1935 76

Limbic encephalitis is a syndrome characterised by irritability, depression, sleeping disturbance, convulsion, hallucination and short-period memory loss that is commonly associated with a malignancy even if there is no evidence of it by the time of presentation. Most reported cases of limbic encephalitis as a paraneoplastic syndrome are associated with small-cell lung cancer and lymphoma. This article is a case report of a patient with limbic encephalitis associated with an oesophageal adenocarcinoma. The patient is a middle-aged man who presented apathy and unstable mood. After months, developed diplopia, reduced visual acuity and involuntary movements. Later, gait disability, disorientation, memory loss and aggressive behaviour were detected, associated with seizures. After investigation, limbic encephalitis was diagnosed and, as the patient developed dysphagia, oesophageal adenocarcinoma was detected. Oesophageal carcinoma usually does not have neurological symptoms associated.
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PMID:Limbic encephalitis as the presenting symptom of oesophageal adenocarcinoma: another cancer to search? 2359 72