Progressive bradykinesia and hypokinesia of ocular pursuit in Parkinson's disease.
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OBJECTIVES: Patients with Parkinson's disease characteristically have difficulty in sustaining repetitive motor actions. The purpose of this study was to establish if parkinsonian difficulty with sustaining repetitive limb movements also applies to smooth ocular pursuit and to identify any pursuit abnormalities characteristic of Parkinson's disease. METHODS: Ocular pursuit in seven patients with moderate to severe bradykinesia predominant Parkinson's disease was compared with seven age matched controls. Predictive and non-predictive pursuit of constant velocity target ramps were examined. Subjects pursued intermittently illuminated 40(0)/s ramps sweeping to the left or right with an exposure duration of 480 ms and average interval of 1.728 s between presentations. To examine for any temporal changes in peak eye velocity, eye displacement or anticipatory smooth pursuit the 124 s duration of each record was divided into four epochs (E1, E2, E3, E4), each lasting 31 s and containing 18 ramp stimuli. Three test conditions were examined in each subject: predictive (PRD1), non-predictive (NPD), and predictive (PRD2) in that order. RESULTS: Both patients and controls initiated appropriate anticipatory pursuit before target onset in the PRD1 and PRD2 conditions that enhanced the response compared with the NPD condition. The distinctive findings in patients with Parkinson's disease were a reduction in response magnitude compared with controls and a progressive decline of response with stimulus repetition. The deficits were explained on the basis of easy fatiguability in Parkinson's disease. CONCLUSIONS: Ocular pursuit shows distinct anticipatory movements in Parkinson's disease but peak velocity and displacement are reduced and progressively decline with repetition as found with limb movements. (+info)
Bradykinesia akinesia inco-ordination test (BRAIN TEST): an objective computerised assessment of upper limb motor function.
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OBJECTIVES: A simple and rapid computerised keyboard test, based on the alternating finger tapping test, has been developed to quantify upper limb motor function. The test generates several variables: (1) kinesia score: the number of keystrokes in 60 seconds; (2) akinesia time: cumulative time that keys are depressed; (3) dysmetria score: a weighted index calculated using the number of incorrectly hit keys corrected for speed; (4) incoordination score: a measure of rhythmicity which corresponds to the variance of the time interval between keystrokes. METHODS: The BRAIN TEST(Copyright ) was assessed on 35 patients with idiopathic Parkinson's disease, 12 patients with cerebellar dysfunction, and 27 normal control subjects. RESULTS: The mean kinesia scores of patients with Parkinson's disease or cerebellar dysfunction were significantly slower than normal controls (Parkinson's disease=107 (SD 28) keys/min v cerebellar dysfunction=86+/- (SD 28) v normal controls=182 (SD 26), p<0.001) and correlated with the UPDRS (r =-0.69, p<0.001). The akinesia time is very insensitive and was only abnormal in patients with severe parkinsonism. The median dysmetria (cerebellar dysfunction=13.8 v Parkinson's disease=6.1 v normal controls=4.2, p=0.002) and inco-ordination scores (cerebellar dysfunction=5.12 v Parkinson's disease=0.84 v normal controls=0.15, p=0.002) were significantly higher in patients with cerebellar dysfunction, in whom the dysmetria score correlated with a cerebellar disease rating scale (r=0.64, p=0.02). CONCLUSION: The BRAIN TEST(Copyright ) provides a simple, rapid, and objective assessment of upper limb motor function. It assesses speed, accuracy, and rhythmicity of upper limb movements regardless of their physiological basis. The results of the test correlate well with clinical rating scales in Parkinson's disease and cerebellar dysfunction. The BRAIN test will be useful in clinical studies. It can be downloaded from the Internet (). (+info)
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.
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BACKGROUND: Tyrosine hydroxylase (TH) catalyzes the rate-limiting step in the biosynthesis of the catecholamines dopamine, norepinephrine, and epinephrine. Recently, mutations were identified in cases of autosomal recessive dopa-responsive dystonia and infantile parkinsonism. We describe a patient with severe symptoms and a new missense mutation in TH. METHODS: Relevant metabolites in urine and cerebrospinal fluid were measured by HPLC with fluorometric and electrochemical detection. All exons of the TH gene were amplified by PCR and subjected to single-strand conformation polymorphism analysis. Amplimers displaying aberrant migration patterns were analyzed by DNA sequence analysis. RESULTS: The patient presented with severe axial hypotonia, hypokinesia, reduced facial mimicry, ptosis, and oculogyric crises from infancy. The major metabolite of dopamine, homovanillic acid, was undetectable in the patient's cerebrospinal fluid. A low dose of L-dopa produced substantial biochemical but limited clinical improvement. DNA sequencing revealed a homozygous 1076G-->T missense mutation in exon 10 of the TH gene. The mutation was confirmed with restriction enzyme analysis. It was not present in 100 control alleles. Secondary structure prediction based on Chou-Fasman calculations showed an abnormal secondary structure of the mutant protein. CONCLUSIONS: We describe a new missense mutation (1076G-->T, C359F) in the TH gene. The transversion is present in all known splice variants of the enzyme. It produces more severe clinical and biochemical manifestations than previously described in TH-deficient cases. Our findings extend the clinical and the biochemical phenotype of genetically demonstrated TH deficiency. (+info)
Instrumentally detected changes in motor functioning in patients with low levels of antipsychotic dopamine D2 blockade.
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Extrapyramidal side-effects (EPSE) of antipsychotic medication are related to the occupancy of dopamine D2 receptors and there appears to be a threshold of D2 occupancy below which clinically EPSE are unlikely to occur. It is unclear whether there are motor changes produced by 'subthreshold' levels of D2 occupancy that are not detectable by clinical examination. This study was designed to investigate whether a number of electromechanical instrumental techniques could detect 'subthreshold' motor changes and whether these changes correlate with dopamine D2 occupancy as measured by [11C]-raclopride PET scan. Twenty medication naive patients were studied before and during treatment with low dose haloperidol. Instrumental techniques detected an asymmetrical worsening in motor function with drug treatment despite the failure of the group to experience significant EPSE. These changes did not correlate with D2 occupancy and measurements of rigidity, tremor, and bradykinesia did not closely inter-correlate. (+info)
Reliance on external cues during serial sequential movement in major depression.
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Maintenance of motor set in patients with unipolar major depression was examined. Twelve melancholic and 12 non-melancholic depressed patients and 24 age matched controls performed a serial choice reaction time task while external cues aiding maintenance of a motor set were systematically removed. Melancholic patients were significantly slower than controls with no reduction in external cues and with a moderate reduction in external cues. At a high level of reduction in external cues, seven of 12 melancholic patients (but only three of 12 non-melancholic patients and controls) were unable to complete the task; suggesting a greater reliance on external cues, perhaps implicating a failure of motor planning ability in melancholic patients. This, in turn, may point to a prefrontal (premotor) deficit in melancholic depression, with possible commonalities with Parkinson's disease. (+info)
The Rolex sign: first manifestation of Parkinson's disease: case report.
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We describe a patient whose initial manifestation of Parkinson's disease was a malfunctioning of a self-winding wristwatch secondary to bradykinesia of his left arm. Andrade and Ferraz reported this sign in 1996, suggesting that it be called the Rolex sign. (+info)
Involuntary movements after anterior cerebral artery territory infarction.
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BACKGROUND AND PURPOSE: Patients with anterior cerebral artery territory infarction presenting with involuntary movements have rarely been described in the literature. CASE DESCRIPTIONS: The author reports 9 such patients: 3 with asterixis, 5 with hemiparkinsonism (tremor, rigidity, hypokinesia), and 1 with both. Asterixis developed in the acute stage in patients with minimal arm weakness, whereas parkinsonism was usually observed after the motor dysfunction improved in patients with initially severe limb weakness. Asterixis correlated with small lesions preferentially involving the prefrontal area; parkinsonism is related to relatively large lesions involving the supplementary motor area. CONCLUSIONS: Anterior cerebral artery territory infarction should be included in the differential diagnosis of asterixis and hemiparkinsonism. (+info)
First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome.
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We report the prenatal detection of increased nuchal translucency and decreased fetal movements, at 11 weeks of gestation, in a fetus at risk for Zellweger syndrome. The diagnosis of Zellweger syndrome was confirmed by metabolic studies on cultured chorionic villus sampling (CVS) cells and the pregnancy was terminated. The couple's subsequent pregnancy was monitored using the same method. In this pregnancy the nuchal translucency measured at 12 weeks' gestation was normal, the fetus was active, and biochemical studies using CVS and amniocentesis confirmed normal results. We believe this to be the first reported case of Zellweger syndrome followed prenatally in which an increased nuchal translucency and fetal hypokinesia were detected in the first trimester. During the pregnancy with the affected child the maternal serum screen (MSS) showed low estriol level. We believe this to be the second report of a low estriol level on MSS in a pregnancy affected with Zellweger syndrome. (+info)