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)

Spinocerebellar ataxia type 7 is a neurodegenerative polyglutamine disease characterized by ataxia and retinal degeneration. The longitudinal course is unknown, and relationships between repeat expansion, clinical manifestations, and neuropathology remain uncertain. We followed 16 affected individuals of a 61-member kindred over 27 years with electroretinograms, neurological examinations including the Brief Ataxia Rating Scale, neuroimaging in five, and autopsy in four cases. We identified four stages of the illness: Stage 0, gene-positive but phenotypically silent; Stage 1, no symptoms, but hyperreflexia and/or abnormal electroretinograms; Stage 2, symptoms and signs progress modestly; and Stage 3, rapid clinical progression. CAG repeat length correlated inversely with age of onset of visual or motor signs (r = -0.74, p = 0.002). Stage 3 rate of progression did not differ between cases (p = 0.18). Electroretinograms correlated with Brief Ataxia Rating Scale score and were a biomarker of disease onset and progression. All symptomatic patients developed gait ataxia, extremity dysmetria, dysarthria, dysrhythmia, and oculomotor abnormalities. Funduscopy revealed pale optic discs and pigmentary disturbances. Visual acuity declined to blindness in those with longer CAG expansions. Hyperreflexia was present from Stage 1 onwards. Restless legs syndrome and sensory impairment were common. Neuropathological hallmarks were neuronal loss in cerebellar cortex, deep cerebellar nuclei, inferior olive, and anterior horns of the spinal cord, and axonal loss in spinocerebellar tracts, dorsal nerve roots, and posterior columns. Retinal pathology included photoreceptor degeneration and disruption of retinal pigment epithelium. Spinocerebellar ataxia type 7 evolves through four clinical stages; neuropathological findings underlie the clinical presentation; electroretinograms are a potential biomarker of disease progression.
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PMID:Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology. 2291 85

Although restless legs syndrome (RLS) and akathisia have similar clinical manifestations and seem to share a common pathophysiology, they are regarded as distinct clinical syndromes. We present three patients with acute pontine infarction and RLS or akathisia as clinical manifestations. They presented with abrupt onset of restlessness of various body parts, as well as other neurological signs including dysarthria or weakness of the legs. Brain MRI of all three patients showed acute pontine infarction. The clinical syndrome in two of the patients was compatible with RLS and one with akathisia. Their symptoms improved after a brief period. Our finding of secondary RLS and akathisia as manifestations of acute pontine infarction provides information that assists in understanding the common anatomical and pathophysiological basis of RLS and akathisia.
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PMID:Restless legs syndrome and akathisia as manifestations of acute pontine infarction. 2395 40

The onset of restless legs syndrome (RLS) is usually progressive and the neural substrates underlying its pathophysiology remain to be identified. Here we report on a patient presenting with acute-onset RLS that was symptomatic of a right anteromedial pontine infarction. This case is exceptional because RLS appeared several hours before the occurrence of a regressive dysarthria clumsy-hand syndrome. Additionally, millimetric MRI sections showed that the structures possibly involved in RLS pathogenesis were the corticospinal tract, the pontine nuclei, and the pontocerebellar fibers. Although this is uncommon, clinicians should be aware that RLS characterized by a sudden onset can be a clinical manifestation related to stroke.
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PMID:Restless legs syndrome as a first manifestation of a cerebral infarct. 2514 75

A 70-year-old woman noticed difficulty in speech and weakness of the left upper and lower limb upon awakening. Neurological examination showed dysarthria and left hemiparesis. No sensory disturbance was observed. Brain MRI revealed acute infarction in the right posterior limb of the internal capsule. On the hospital day 1, she developed the abnormal sensations restricted to the bilateral shoulders, resulting in difficulty initiating sleep. On laboratory data, renal function and serum hemoglobin and ferritin levels were normal. When four essential features of restless legs syndrome (RLS) were applied to her shoulders, the patient met RLS criteria. Following low dose pramipexole treatment, the abnormal sensation of the shoulders and insomnia significantly improved. We should be aware of the possibility of RLS or its variant, including "restless shoulder" of our patient, for the cause of insomnia following acute ischemic infarction.
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PMID:[A 70-year-old woman presenting with restless shoulder following posterior internal capsule infarction]. 2907 Jul 54

Pontine warning syndrome (PWS) occurs rarely and is characterized by recurrent, stereotyped episodes of motor or sensory dysfunction, dysarthria, or ophthalmoplegia leading to pontine infarction. Restless legs syndrome (RLS) is a distinct neurological sensorimotor disorder. Pontine infarction is a rare but possible cause of RLS. Here, we report the case of a 58-year-old woman who experienced unilateral RLS in concomitance with stereotyped episodes of left-sided weakness and dysarthria, and developed an acute paramedian pontine infarction eventually. To the best of our knowledge, no other cases of PWS coinciding with RLS in the progression of pontine infarction have been reported in the literature. Furthermore, we discussed the potential mechanisms of PWS and RLS secondary to pontine infarction, which may be helpful for managing such patients.
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PMID:Pontine warning syndrome and restless legs syndrome secondary to paramedian pontine infarction: a case report. 3317 13