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 the clinicopathological features of 203 cases of pathologically proven multiple system atrophy (MSA) from 108 publications up to February 1995. The majority of patients showed symptoms in their early fifties, and men were more commonly affected than women (ratio of 1.3:1). Most patients suffered from some degree of autonomic failure (74%). Parkinsonism was the most common motor disorder (87%), followed by cerebellar ataxia (54%) and pyramidal signs (49%). The response to levodopa was poor in most patients, but there was a subgroup with a good response, who also often developed axial levodopa-induced dyskinesias. Other characteristic features included severe dysarthria, stridor, and, in a few patients, contractures and dystonia (antecollis). Mild or moderate intellectual impairment occurred in some cases, but severe dementing illness was most unusual. The main pathological change comprised cell loss and gliosis in the putamen, caudate nucleus, external pallidum, substantia nigra, locus ceruleus, inferior olives, pontine nuclei, cerebellar Purkinje cells, and intermediolateral cell columns of the spinal cord. However, other neuronal populations were also involved to varying degrees, such as the thalamus, vestibular nucleus, dorsal vagal nucleus, corticospinal tracts, and anterior horn cells. Characteristic glial and/or neuronal cytoplasmic inclusions were identified in all cases in which they were sought, irrespective of clinical presentation. Akinesia correlated with the degree of nigral and putaminal cell loss, whereas rigidity was related only to the later. Tremor was unrelated to cell loss at any site. Ataxia correlated with the degree of olivopontocerebellar atrophy. Pyramidal signs were associated with pyramidal tract pallor. Our analysis also confirmed an association of postural hypotension with intermediolateral cell column degeneration.
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PMID:Multiple system atrophy: a review of 203 pathologically proven cases. 908 71

Rapid-onset dystonia-parkinsonism (RDP), first described in a large Midwestern family, is now reported in a second, apparently unrelated, family in which four individuals have this same syndrome. All four developed sudden onset of dysarthria, dysphagia, severe dystonic spasms, bradykinesia, and postural instability over less than 1 hour to a few days. Three of the four had stable limb dystonia for several years preceding the onset of combined dystonia-parkinsonism. Treatment with levodopa/carbidopa provided little benefit. We propose diagnostic criteria for RDP and further define the spectrum of this unusual disease.
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PMID:Rapid-onset dystonia-parkinsonism in a second family. 910 1

We studied the clinical features and molecular genetics of a family, afflicted with a form of atypical parkinsonism, originating from the Madeira Islands of Portugal. We examined four affected individuals and reviewed clinical information on one other affected family member. Mean age at onset was 31 years. Parkinsonism (akinesia, rigidity, gait disturbance) was the most prominent feature in advanced disease. Levodopa responsiveness with peak-dose dyskinesia was present in one individual. Initial symptoms and other clinical features were variable and included other extrapyramidal signs (dystonia, action tremor of the limbs and bulbar muscles, synkinesis), ophthalmologic abnormalities (ptosis, slow saccades, progressive external ophthalmoplegia, hypometric saccades, saccadic pursuit movements), speech abnormalities (dysarthria, hypernasality), cortical impairment (dementia, frontal lobe dysfunction, palilalia, perseveration), minor cerebellar signs (dysmetria, gait ataxia), pyramidal abnormalities (spasticity, hyperreflexia), and peripheral nervous system abnormalities (propioceptive loss, areflexia, distal weakness, atrophy). The length of trinucleotide repeats in the MJD1 gene was in the normal range for all affected individuals.
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PMID:Atypical parkinsonism in a family of Portuguese ancestry: absence of CAG repeat expansion in the MJD1 gene. 915 59

Liver transplantation (LTX) is an approved method to treat patients with end-stage liver cirrhosis and acute liver failure due to Wilson's disease. Initially, there was some consideration about the indication for LTX in the case of Wilson's disease with severe neurological impairment but normal liver function. From 1988 until 1995, 13 out of 700 LTX (1.9%) were performed for Wilson's disease. Indications for LTX were (I) intractable neurological impairment with normal liver function (n = 4; including one patient with Child A cirrhosis), (II) fulminant hepatic failure (n = 3), and (III) end-stage liver cirrhosis (n = 6) (Child B, n = 1; Child C, n = 5). There were 8 females and 5 males with a mean age of 27 yr (range 15-34 yr). All patients of group I required continuous nursing care before LTX, in spite of pretreatment with d-penicillamine and zinc. The most frequent symptoms in these patients were dysphagia (n = 4), dysarthria (n = 4), tremor (n = 4), sialorrhea (n = 3), ataxia (n = 3), dystonia (n = 3) and handwriting difficulties (n = 3). All patients of group II presented with hemolytic anemia. The survival rate was 100%, and all patients were doing well after a mean follow-up period of 32.8 months (range 8-68 months). The postoperative course was without severe infectious and other complications. All patients of group I revealed the first signs of improvement for all types of neurological symptoms 4-6 wk after LTX. One patient has been without any symptoms from 18 months until 5.5 yr after LTX. Two patients with short-term follow-up also had noticeable improvement of neurological impairment, but residual symptoms are still present. One patient showed only slight improvement. We conclude that Wilson's disease may be a good indication for LTX for both neurological manifestation with stable liver function and hepatic manifestation with cirrhosis or acute liver failure.
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PMID:Liver transplantation: treatment of choice for hepatic and neurological manifestation of Wilson's disease. 919 46

We reported a 13-year-old boy with juvenile Huntington disease diagnosed by DNA analysis. Symptoms started with dysarthria at 6 years of age, which was followed by progressive dysgraphia and gait disturbance due to dystonia from 7 years, and by epileptic seizures from 12 years. Magnetic resonance imaging revealed atrophy of the bilateral caudate nuclei and T2- and proton-weighted high intensity area in both putamina. The CAG (cytosine-adenine-guanine) trinucleotide repeat on chromosome 4 p16 was markedly expanded to 81. For a child with dystonia with mental deterioration, juvenile Huntington disease should be considered in the differential diagnosis.
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PMID:[A case of juvenile Huntington's disease presenting dystonia and confirmed by DNA analysis]. 924 90

A 25-year-old man presented in March 1996 with progressive dysarthria, cerebellar ataxia, and dystonia, which began after he inhaled heroin vapor for a full day 2 months previously. The patient had a 2-year history of heroin inhalation. Magnetic brain stimulation showed waveform dysynchronization suggestive of motor pathway perturbation above the cervical spinal level. Brain computed tomography and magnetic resonance imaging revealed extensive symmetric white matter involvement of bilateral cerebral and cerebellar hemispheres and the brainstem, especially along the corticospinal tract. The clinical features, electrophysiologic manifestations, and imaging studies strongly indicated a lipophilic toxin-induced demyelinating process, mainly involving the central motor system, as the most likely cause of heroin leukoencephalopathy. This is the first reported case of heroin-related leukoencephalopathy in Taiwan.
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PMID:Leukoencephalopathy after inhalation of heroin vapor. 930 33

To evaluate the clinical characteristics of Machado-Joseph disease (MJD) with reference to CAG repeat length and disease duration, we analyzed neurologic findings in 108 patients from 84 families. The majority of MJD patients presented with an ataxic gait as the initial symptom. Dysarthria and nystagmus were observed from an early stage. Bulging eyes, muscle atrophy and bradykinesia developed later. Patients with a shorter CAG repeat length or later onset had more frequent involvement of proprioceptive sensory deficit. Incidence of abnormal reflexes, tones, and proprioceptive sensation was not associated with disease duration, but with CAG repeat length. Based on these results, we propose a new clinical classification: type A (juvenile type), with hyperreflexia and dystonia, but without a proprioceptive sensory deficit; type C (adult type), with hyporeflexia and a proprioceptive sensory deficit, but without dystonia; and type B (intermediate type), the remaining patients with a mixed presentation.
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PMID:CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification. 941 38

A 15-year-old boy was suffering from splenomegaly and a 10-year history of a neurologic disorder that included mental retardation, vertical supranuclear gaze palsy, dysarthria, ataxia, and dystonia. Bone marrow aspirates revealed foamy cells with storage materials which were positive with filipin staining. Cultured skin fibroblasts derived from the patient showed moderate loss of sphingomyelinase activity and the impairment of cholesterol esterification. The characteristic clinical presentations and typical histochemical findings of this patient met the diagnostic criteria of Niemann-Pick disease type C (NPC). In the fibroblasts from the patient, there was an accumulation of GM2 ganglioside around their cytoplasms. Increased levels of glycolipids. including GM2 ganglioside are reported in the cerebral cortex of NPC, but not in the fibroblasts. The fibroblasts derived from NPC may reflect the abnormal metabolism of glycolipids in the central nervous system of NPC.
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PMID:Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann-Pick disease type C. 954 79

Rapid-onset dystonia-parkinsonism (RDP) is characterized by sudden onset over hours to days of dystonia, dysphagia, dysarthria, and parkinsonism. RDP has been reported by our group in two apparently unrelated families. We now report analysis of cerebrospinal fluid metabolites of dopamine, norepinephrine, and serotonin for mild and severely affected individuals, known asymptomatic gene carriers, and at-risk individuals from both families with RDP. Levels of the dopamine metabolite homovanillic acid (HVA) were decreased in severely affected patients and in some asymptomatic gene carriers. HVA levels increased with treatment in some affected individuals, but this increase did not predict clinical response to carbidopa/levodopa. We suggest that a low HVA level is a biological marker with modest association to the diagnosis of RDP.
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PMID:Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism. 954 35

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


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