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 70-year-old man developed a slowly progressive cerebellar syndrome after having been exposed to carbon disulfide (CS2) in a viscose rayon plant for 27 years. Ataxia, dysmetria, dysarthria and adiadochokinesia appeared 7 years after retirement from work (at age 54), and were later accompanied by cognitive deterioration, dysmnesia, spatio-temporal disorientation, emotional lability, and paranoid-obsessive disturbances. Brain computed tomography (CT) and magnetic resonance imaging (MRI) showed advanced global cerebellar atrophy, and a picture of less severe cerebrocortical atrophy. The case illustrates the possibility of chronic toxic encephalopathy among patients with previous long-term exposure to CS2. In such instances, cerebellar damage may develop as an exceptional, delayed manifestation of neurotoxicity: brain imaging techniques can significantly contribute to the diagnosis and follow-up, in addition to occupational anamnesis and neuropsychiatric evaluation. The patient presented also serves as a remainder that neurodegenerative disorders of apparently unknown origin sometimes derive from occupational toxic exposures suffered in the past. The clinical manifestations may appear several years after retirement from work, when the effects of toxic damage combine with age-related neuronal loss to overcome the brain functional reserve.
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PMID:Cerebellar atrophy as a delayed manifestation of chronic carbon disulfide poisoning. 1267 53

Spinocerebellar ataxias (SCAs) are a clinically heterogeneous group of disorders. Current molecular classification corresponds to the order of gene description (SCA1-SCA 25). The prevalence of SCAs is estimated to be 1-4/100,000. Patients exhibit usually a slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and/or ataxic gait. They can present also with pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioral symptoms), peripheral neuropathy. SCAs are also genetically heterogeneous and the clinical diagnosis of subtypes of SCAs is complicated by the salient overlap of the phenotypes between genetic subtypes. The following clinical features have some specific values for predicting a gene defect: slowing of saccades in SCA2, ophthalmoplegia in SCA1, SCA2 and SCA3, pigmentary retinopathy in SCA7, spasticity in SCA3, dyskinesias associated with a mutation in the fibroblast growth factor 14 (FGF 14) gene, cognitive impairment/behavioral symptoms in SCA17 and DRPLA, seizures in SCA10, SCA17 and DRPLA, peripheral neuropathy in SCA1, SCA2, SCA3, SCA4, SCA8, SCA18 and SCA25. Neurophysiological findings are compatible with a dying-back axonopathy and/or a neuronopathy. Three patterns of atrophy can be identified on brain MRI: a pure cerebellar atrophy, a pattern of olivopontocerebellar atrophy, and a pattern of global brain atrophy. A remarkable observation is the presence of dentate nuclei calcifications in SCA20, resulting in a low signal on brain MRI sequences. Several identified mutations correspond to expansions of repeated trinucleotides (CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and DRPLA, CTG repeats in SCA8). A pentanucleotide repeat expansion (ATTCT) is associated with SCA10. Missense mutations have also been found recently. Anticipation is a main feature of SCAs, due to instability of expanded alleles. Anticipation may be particularly prominent in SCA7. It is estimated that extensive genetic testing leads to the identification of the causative gene in about 60-75 % of cases. Our knowledge of the molecular mechanisms of SCAs is rapidly growing, and the development of relevant animal models of SCAs is bringing hope for effective therapies in human.
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PMID:The wide spectrum of spinocerebellar ataxias (SCAs). 1589 52

We report the case of a 31-year-old man with bipolar disorder who was on a combination therapy of lithium, lamotrigine and escitalopram. Serum lithium level was within therapeutic range. Cerebellar symptoms such as dysarthria, ataxia, and dyskinesia developed in the patient following the pneumonia. Cerebellar syndrome was most likely due to lithium neurotoxicity, which was associated with additional factors such as acute febrile pneumonia, fever and hyponatremia. The reported case suggests that infections may increase the risk of cerebellar toxicity of lithium, even in the therapeutic doses.
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PMID:Cerebellar syndrome in a patient with pneumonia under lithium treatment: A case report. 1680 24

Paraneoplastic cerebellar degeneration (PCD) can present as a severe and (sub)acute cerebellar syndrome. PCD can accompany different kinds of neoplasms including small cell lung cancer, adenocarcinoma of the breast and ovary, and Hodgkin's lymphoma. A 34-year-old patient is described with acute dysarthria, gait ataxia and diplopia. Despite extensive laboratory and radiological evaluations in this patient with rapidly deteriorating cerebellar syndrome, the diagnosis of a paraneoplastic syndrome was only made after several months, when an anti-Tr antibody was detected in his serum. The search for Hodgkin's disease as concomitant disorder was then started and resulted in stage II B disease. The patient was successively treated with six courses of etoposide, bleomycin, vinblastine and dexamethasone and radiotherapy, which resulted in a complete remission of the Hodgkin's disease. After starting therapy the cerebellar degeneration stabilised. The pathogenesis of neuronal damage in central nervous system paraneoplastic disorders such as the one we describe is not completely understood. Antitumour therapy is assumed to be the important cornerstone in stabilising the neurological condition. Improvement of the cerebellar syndrome in anti-Tr autoantibody paraneoplastic disease is a rare achievement. Early recognition of the concomitant disorders (anti-Tr autoantibody disease and Hodgkin's lymphoma) is of crucial importance.
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PMID:Paraneoplastic cerebellar degeneration preceding the diagnosis of Hodgkin's lymphoma. 1692 86

Central nervous system (CSN) involvement in schistosomiasis is an ectopic manifestation with a large variety of clinical forms, including pseudotumoral, which occurs in isolated cases and is rare. Three patients with epidemiological indications of this pathology were examined; the clinical picture included lower-back pain irradiating to lower limbs, associated with progressive flaccid paraparesis and sphincterial disturbances in cases in which the spinal chord was involved; while in cases with encephalitic impairment, headache, dizziness and cerebellar syndrome, characterized by dysarthria and right-side dysgraphia, were present. Magnetic resonance imaging (MRI) showed a growing process in all cases; cerebrospinal fluid (CSF) characteristics and biological markers were compatible with neuroschistosomiasis (NS). Biopsy of the lesions confirmed this diagnosis in one case. After specific treatment with schistosomicides and corticosteroids, clinical, radiological and laboratorial improvement was observed.
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PMID:Pseudotumoral form of neuroschistosomiasis: report of three cases. 1787 1

Human parvovirus B19 generally causes erythema infectiosum in childhood, but it can be associated with unusual findings, particularly in immunocompromised patients. This is a report about an immunocompetent 4-year-old female child affected with acute encephalitis by parvovirus B19, documented by polymerase chain reaction performed on cerebrospinal fluid, who was treated with intravenous immunoglobulins and dexamethasone and who developed a cerebellar syndrome with ataxia, dysmetria, and dysarthria. To the best of the authors' knowledge, this may be the first report of human parvovirus B19 encephalitis complicated by severe ataxia in childhood.
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PMID:Severe ataxia as a complication of human parvovirus B19 acute encephalitis in a child. 1848 17

In the present study, eye movements are recorded in two patient groups with an autosomal dominantly inherited cerebellar disorder, i.e. spinocerebellar ataxia type 6 (SCA6) and familial cortical myoclonic tremor with epilepsy (FCMTE). In SCA6 and FCMTE patients striking similarities with the extensive Purkinje cell changes in the cerebellar cortex were described, but the two disorders have a distinctive clinical picture. SCA6 is a late-onset cerebellar syndrome, with relatively minimal brain stem and cerebral cortex symptoms. In contrast, FCMTE is clinically characterized by cortical symptomatology with a distal cortical myoclonic tremor and infrequent epileptic attacks without cerebellar dysarthria and limb ataxia. Comparison of oculomotor function of six FCMTE patients, five SCA6 patients and 18 healthy controls demonstrated both in SCA6 patients and FCMTE patients square wave jerks, downbeat nystagmus (DBN) and a stronger reduced downward smooth pursuit gain than an upward smooth pursuit gain. Only in SCA6 patients horizontal smooth pursuit gain was reduced. Except for the downward direction mean saccadic gain in both patient groups was reduced. This is consistent with cerebellar cortical pathology in both disorders. Subsequently, both patient groups showed increase of DBN with hyperventilation. As a novel finding, only the FCMTE patients showed a significantly increased amount of express saccades in the pro-saccade paradigm.
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PMID:Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6. 1868 31

Paraneoplastic cerebellar syndrome (PCD) is a rare, neurological disorder that primarily emerges before the detection of malignancy. We present a case involving a 52-year-old woman who was diagnosed and treated for primary ovarian cancer in 2005. In 2007, the patient exhibited ataxia, dysarthria and peripheral neuropathy. Following neurological assessment and immunologic testing, the diagnosis of PCD was made. The disease typically precedes the detection of malignancy by a year or more and has been documented in only a few cases following the treatment for ovarian cancer.
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PMID:Ovarian cancer and late onset paraneoplastic cerebellar degeneration. 1898 68

Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis. Cerebellar involvement is rare in this syndrome. We report a 37-year-old woman with slowly progressive cerebellar ataxia, dysmetria of limbs, nystagmus, and dysarthria, bilateral painful axillary masses, and generalized arthralgia. Brain MRI revealed cerebellar atrophy with focal lesions in the pons, middle cerebellar peduncle, and the cerebellum. She underwent incisional biopsy of her axillary masses which showed findings consistent with ECD. An MRI of her lower extremities revealed lesions in the diaphyses, metaphyses, and epiphyses of the proximal tibia and distal femur bilaterally. This is a rare case of cerebral ECD with progressive cerebellar syndrome associated with cerebellar atrophy.
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PMID:A case of cerebral erdheim-chester disease with progressive cerebellar syndrome. 1951 25

Paraneoplastic cerebellar degeneration is a rare neurological disorder that frequently precedes the detection of malignancy. Here, we report the case of a 60 year-old woman with locally advanced squamous cell carcinoma of the tongue who developed a subacute cerebellar syndrome associated with the presence of anti-CV2/CRMP5 antibodies in the cerebrospinal fluid, after achieving complete remission of the primary tumor and the involved cervical lymph nodes by chemoradiation. The patient's symptoms on presentation were dizziness and gait unsteadiness. On examination she showed dysarthria, nystagmus and limb and gait ataxia. The diagnosis of paraneoplastic cerebellar syndrome was made on the basis of the clinical findings and immunological testing that revealed the presence of anti-CV2/CRMP5 antibodies in the patient's cerebrospinal fluid. This syndrome, which is very rare in association with head and neck cancer, commonly precedes the detection of malignancy by a year or more and has been documented in only a few cases after completion of anticancer treatment.
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PMID:Anti-CV2 associated cerebellar degeneration after complete response to chemoradiation of head and neck carcinoma. 1979 70


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