Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: 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 an unusual case of sporadic adult onset cerebellar ataxia with hypogonadism. A 40-year-old unmarried man presented with progressive ataxia and dysarthria along with complaints of non-development of secondary sexual characteristics and erectile dysfunction. There were complaints of intermittent diarrhea. Clinical examination revealed a pan-cerebellar syndrome with features of hypoandrogenism. No eye movement abnormalities were evident. There were signs of malabsorption. Investigations confirmed the presence of auto-antibodies found in celiac disease, and a duodenal biopsy confirmed the same. Hypoandrogenism was postulated to be due to hypergonadotropic hypogonadism which has been mentioned in a few patients of celiac disease. However, the pattern seen in our patient was of a hypogonadotropic hypogonadism. This is probably secondary to an autoimmune hypophysitis seen in some patients in the absence of other clinical manifestations. Autoantibody testing should be a diagnostic necessity in any adult with a sporadic cerebellar ataxia.
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PMID:An unusual cause of adult onset cerebellar ataxia with hypogonadism. 2015 Oct 8

Paraneoplastic cerebellar degeneration (PCD) is a rare non-metastatic complication of cancer mediated by T lymphocytes and auto-antibodies directed against Purkinje cells of the cerebellum. We report a patient with relapsing-remitting multiple sclerosis who developed a progressive cerebellar syndrome with dysarthria, ataxic gait and vertigo mimicking development of secondary progressive multiple sclerosis but caused by anti-Yo antibody positive PCD associated with ovarian cancer, presenting an unusual diagnostic challenge.
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PMID:Paraneoplastic cerebellar degeneration mimicking development of secondary progressive multiple sclerosis in a patient with relapsing-remitting multiple sclerosis. 2114 18

The cerebellum is a key-piece for information processing and is involved in numerous motor and nonmotor activities, thanks to the anatomical characteristics of the circuitry, the enormous computational capabilities and the high connectivity to other brain areas. Despite its uniform cytoarchitecture, cerebellar circuitry is segregated into functional zones. This functional parcellation is driven by the connectivity and the anatomo-functional heterogeneity of the numerous extra-cerebellar structures linked to the cerebellum, principally brain cortices, precerebellar nuclei and spinal cord. Major insights into cerebellar functions have been gained with a detailed analysis of the cerebellar outputs, with the evidence that fundamental aspects of cerebrocerebellar operations are the closed-loop circuit and the predictions of future states. Cerebellar diseases result in disturbances of accuracy of movements and lack of coordination. The cerebellar syndrome includes combinations of oculomotor disturbances, dysarthria and other speech deficits, ataxia of limbs, ataxia of stance and gait, as well as often more subtle cognitive/behavioral impairments. Our understanding of the corresponding anatomo-functional maps for the human cerebellum is continuously improving. We summarize the topography of the clinical deficits observed in cerebellar patients and the growing evidence of a regional subdivision into motor, sensory, sensorimotor, cognitive and affective domains. The recently described topographic dichotomy motor versus nonmotor cerebellum based upon anatomical, functional and neuropsychological studies is also discussed.
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PMID:Topography of cerebellar deficits in humans. 2124 May 80

X-Linked ichthyosis (XRI) is a keratinisation disorder caused by a mutation of the steroid sulfatase gene. An association with mental retardation and epilepsy has been reported earlier. Here, we report on a patient suffering from cerebellar symptoms such as yes/yes head tremor, scanning dysarthria, pronounced dysmetria and intention tremor, without any abnormalities of the cerebellum in MRI, in addition to XRI proven by molecular genetics. Furthermore, the patient suffered from anxiety disorder, depression, and a male pattern baldness. One of the patient' s brothers and a nephew showed a similar clinical presentation. Because of the fact that several members of the patient's family suffered from similar symptoms, we consider a syndromic link between XRI and cerebellar disorder to be possible.
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PMID:[X-linked recessive ichthyosis (XRI), cerebellar ataxia and neuropsychiatric symptoms]. 2334 Sep 70

The cerebellum is involved in sensorimotor operations, cognitive tasks and affective processes. Here, we revisit the concept of the cerebellar syndrome in the light of recent advances in our understanding of cerebellar operations. The key symptoms and signs of cerebellar dysfunction, often grouped under the generic term of ataxia, are discussed. Vertigo, dizziness, and imbalance are associated with lesions of the vestibulo-cerebellar, vestibulo-spinal, or cerebellar ocular motor systems. The cerebellum plays a major role in the online to long-term control of eye movements (control of calibration, reduction of eye instability, maintenance of ocular alignment). Ocular instability, nystagmus, saccadic intrusions, impaired smooth pursuit, impaired vestibulo-ocular reflex (VOR), and ocular misalignment are at the core of oculomotor cerebellar deficits. As a motor speech disorder, ataxic dysarthria is highly suggestive of cerebellar pathology. Regarding motor control of limbs, hypotonia, a- or dysdiadochokinesia, dysmetria, grasping deficits and various tremor phenomenologies are observed in cerebellar disorders to varying degrees. There is clear evidence that the cerebellum participates in force perception and proprioceptive sense during active movements. Gait is staggering with a wide base, and tandem gait is very often impaired in cerebellar disorders. In terms of cognitive and affective operations, impairments are found in executive functions, visual-spatial processing, linguistic function, and affective regulation (Schmahmann's syndrome). Nonmotor linguistic deficits including disruption of articulatory and graphomotor planning, language dynamics, verbal fluency, phonological, and semantic word retrieval, expressive and receptive syntax, and various aspects of reading and writing may be impaired after cerebellar damage. The cerebellum is organized into (a) a primary sensorimotor region in the anterior lobe and adjacent part of lobule VI, (b) a second sensorimotor region in lobule VIII, and (c) cognitive and limbic regions located in the posterior lobe (lobule VI, lobule VIIA which includes crus I and crus II, and lobule VIIB). The limbic cerebellum is mainly represented in the posterior vermis. The cortico-ponto-cerebellar and cerebello-thalamo-cortical loops establish close functional connections between the cerebellum and the supratentorial motor, paralimbic and association cortices, and cerebellar symptoms are associated with a disruption of these loops.
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PMID:Consensus Paper: Revisiting the Symptoms and Signs of Cerebellar Syndrome. 2610 56

Thalamic deep brain stimulation is a mainstay treatment for severe and drug-refractory essential tremor, but postoperative management may be complicated in some patients by a progressive cerebellar syndrome including gait ataxia, dysmetria, worsening of intention tremor and dysarthria. Typically, this syndrome manifests several months after an initially effective therapy and necessitates frequent adjustments in stimulation parameters. There is an ongoing debate as to whether progressive ataxia reflects a delayed therapeutic failure due to disease progression or an adverse effect related to repeated increases of stimulation intensity. In this study we used a multimodal approach comparing clinical stimulation responses, modelling of volume of tissue activated and metabolic brain maps in essential tremor patients with and without progressive ataxia to disentangle a disease-related from a stimulation-induced aetiology. Ten subjects with stable and effective bilateral thalamic stimulation were stratified according to the presence (five subjects) of severe chronic-progressive gait ataxia. We quantified stimulated brain areas and identified the stimulation-induced brain metabolic changes by multiple 18 F-fluorodeoxyglucose positron emission tomography performed with and without active neurostimulation. Three days after deactivating thalamic stimulation and following an initial rebound of symptom severity, gait ataxia had dramatically improved in all affected patients, while tremor had worsened to the presurgical severity, thus indicating a stimulation rather than disease-related phenomenon. Models of the volume of tissue activated revealed a more ventrocaudal stimulation in the (sub)thalamic area of patients with progressive gait ataxia. Metabolic maps of both patient groups differed by an increased glucose uptake in the cerebellar nodule of patients with gait ataxia. Our data suggest that chronic progressive gait ataxia in essential tremor is a reversible cerebellar syndrome caused by a maladaptive response to neurostimulation of the (sub)thalamic area. The metabolic signature of progressive gait ataxia is an activation of the cerebellar nodule, which may be caused by inadvertent current spread and antidromic stimulation of a cerebellar outflow pathway originating in the vermis. An anatomical candidate could be the ascending limb of the uncinate tract in the subthalamic area. Adjustments in programming and precise placement of the electrode may prevent this adverse effect and help fine-tuning deep brain stimulation to ameliorate tremor without negative cerebellar signs.
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PMID:Progressive gait ataxia following deep brain stimulation for essential tremor: adverse effect or lack of efficacy? 2833 19

Paraneoplastic cerebellar degeneration (PCD) can occur severely and appear as subacute cerebellar syndrome. PCD may be associated with small cell lung cancer, adenocarcinoma, breast cancer, ovarian carcinoma, and Hodgkin's lymphoma. An 11-year-old male was admitted with acute cerebellar ataxia, dysarthria, and diplopia. Mediastinal conglomerated lymph nodes were depicted in a chest computed tomography (CT) examination, and diagnosis of stage IV Hodgkin's lymphoma was obtained after a lymph node biopsy. The antibodies against Purkinje cells (anti-Tr antibody) were positive immunohistochemically. Thus, paraneoplastic cerebellar degeneration depending on Hodgkin's disease was diagnosed. Despite the completion of chemotherapy, neurological recovery was not observed in the patient and plasmapheresis with immunoadsorption, and intravenous immunoglobulin (IVIG) was performed. Truncal ataxia, gait disturbance, and tremors decreased. Consequently, we thought that plasmapheresis with the immunoadsorption method and IVIG therapy might be a treatment option for cerebellar ataxia caused by a mechanism of immune ancestry.
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PMID:Hodgkin's lymphoma associated with paraneoplastic cerebellar degeneration in children: a case report and review of the literature. 2844 49

Demonstration of a posterior fossa syndrome (PFS) in a 32-year-old male patient with clinically isolated syndrome which subsequently developed into relapsing-remitting Multiple Sclerosis. The patient suffered from double vision, coordination problems including unsteady gait and atactic dysarthria, concentration difficulties, as well as adynamia and impaired decision making. The patient clinically presented a cerebellar and dysexecutive syndrome. Cerebral magnetic resonance imaging (MRI) revealed a contrast enhancing ponto-mesencephalic lesion with a volume of 4.8cm³. Neuropsychological tests showed pronounced executive dysfunctions, reduced visuoconstructive skills, attentional deficits, echolalia, and non-fluent speech production. After cortisone and plasmapheresis, the cerebellar syndrome improved but manual fine motor skills and executive dysfunctions persisted. After three months, symptoms remitted except for a slight gait imbalance. After six months, neuropsychological tests were normal except for a moderate attention deficit. MRI revealed a clear regression of the ponto-mesencephalic lesion to a volume of 2.4cm³ without contrast enhancement. This case report intends to provide an overview of the symptomatology and etiology of PFS and offers new insights into its pathomechanism demonstrating a pontine disconnection syndrome caused by a large demyelinating plaque.
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PMID:Posterior fossa syndrome with a large inflammatory ponto-mesencephalic lesion. 2784 85

Phosphomannomutase deficiency (PMM2-CDG) causes a cerebellar syndrome that has been evaluated using the International Cooperative Ataxia Rating Scale (ICARS). However, no particular dysarthria tests have been used. Speech ICARS subscore subjectively assesses fluency and clarity of speech with two items. Repetition of syllables, traditionally used for characterization of ataxic speech, was validated in early-onset ataxia conditions. We assess the validity of the PATA test (SCA Functional Index [SCAFI]) in PMM2-CDG patients.PATA rates from 20 patients were compared with a control population were and correlated with ICARS and neuroimaging.There was a difference between the PATA rate in patients and controls. PATA rate increased with age in controls. In patients, the improvement of PATA rate with age was not significant. In patients, the PATA rate was negatively correlated with the total ICARS score and the Speech ICARS subscore. Regarding neuroimaging, midsaggital vermis relative diameter was positively correlated with PATA results. These last differences were also significant when the results are corrected by age.PATA rate provides an easy measure for a quantitative assessment of dysarthria that may help clinicians to monitor patients' evolution in a regular consultation. It could also be used in PMM2-CDG clinical trials implementing ICARS speech subscore information.
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PMID:Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG. 3030 43

Spinocerebellar ataxia type 6 (SCA6) presents typically with a pure cerebellar syndrome. Only 1 SCA 6 patient with writer's cramp has been reported on and a family history of ataxia and writer's cramp has never been reported on. Two other SCA6 patients with a shoulder girdle/hand dystonia and unspecified upper-limb dystonia with a family history of ataxia have been reported on. We report on the largest family with SCA6 and writer's cramp. The proband developed dysarthria, ataxia, and writer's cramp by age 37. His father presented with ataxia at 55, followed by writer's cramp and dysarthria. The proband's brother developed ataxia at 41, followed by dysarthria and writer's cramp. A paternal uncle (deceased; not examined) and 58-yr-old brother both developed pure ataxia (genetic testing is pending). This large family with complex movement disorder demonstrates that it is important to consider SCA6 in a patient presenting with an ataxia and writer's cramp and supports cerebellum involvement in dystonia.
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PMID:SCA 6 with Writer's Cramp: The Phenotype Expanded. 3071


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