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Gaze Palsy (gaze + palsy)

Distribution by Scientific Domains
Medical Sciences90%

Kinds of Gaze Palsy

  • vertical gaze palsy
    		•

    Selected Abstracts

    Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients

    MOVEMENT DISORDERS, Issue 2 2006
    a T. Draga
    Abstract The relative frequencies of different spinocerebellar ataxias (SCAs) vary widely among different ethnic groups, presumably due to a founder effect. We investigated the relative prevalence of SCA1,3, 6,8, 12, 17; dentate,rubro,pallidoluysian atrophy; and Friedreich's ataxia (FRDA) in Serbian patients with adult-onset (>20 years of age) hereditary and sporadic SCAs, and compared clinical features of patients with genetically confirmed SCAs. A total of 108 patients from 54 families (38 apparently dominant [ADCA] and 16 apparently recessive) with adult-onset hereditary ataxia and 75 apparently sporadic patients were assessed. Of 38 families with ADCA, 13 (34%) were positive for an expansion in an SCA1 and 5 families (13%) for an expansion in an SCA2 allele. In 20 families (53%), no expansions have been identified in any of the analyzed genes. Gaze palsy, spasticity, and hyperreflexia were significantly more common in SCA1, whereas slow saccades, hypotonia, hyporeflexia, and dystonia prevailed in SCA2 patients. Among the 16 families with an apparently recessive mode of ataxia inheritance, 4 (25%) were identified as having the FRDA mutation. Ataxia-causing mutations were identified in 8 (10.6%) of patients with apparently sporadic adult-onset ataxia. © 2005 Movement Disorder Society [source]

    Unidirectional startle responses and disrupted left,right co-ordination of motor behaviors in robo3 mutant zebrafish

    GENES, BRAIN AND BEHAVIOR, Issue 5 2009
    H. A. Burgess
    The Roundabout (Robo) family of receptors and their Slit ligands play well-established roles in axonal guidance, including in humans where horizontal gaze palsy with progressive scoliosis (HGPPS) is caused by mutations in the robo3 gene. Although significant progress has been made toward understanding the mechanism by which Robo receptors establish commissural projections in the central nervous system, less is known about how these projections contribute to neural circuits mediating behavior. In this study, we report cloning of the zebrafish behavioral mutant twitch twice and show that twitch twice encodes robo3. We show that in mutant hindbrains the axons of an identified pair of neurons, the Mauthner cells, fail to cross the midline. The Mauthner neurons are essential for the startle response, and in twitch twice/robo3 mutants misguidance of the Mauthner axons results in a unidirectional startle response. Moreover, we show that twitch twice mutants exhibit normal visual acuity but display defects in horizontal eye movements, suggesting a specific and critical role for twitch twice/robo3 in sensory-guided behavior. [source]

    Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion

    MOVEMENT DISORDERS, Issue 12 2006
    Alberto J. Espay MD
    Abstract A 48-year-old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic. © 2006 Movement Disorder Society [source]

    Rhythmic cortical myoclonus in Niemann,Pick disease type C

    MOVEMENT DISORDERS, Issue 9 2006
    Laura Canafoglia MD
    Abstract We here describe a patient with late-infantile Niemann,Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) ,polymyographic examinations showed abnormally high and diffuse background alpha-activity, enhanced by intermittent photic stimulation. The electromyographic (EMG) showed quasirhythmic myoclonic jerks during motor activation. EEG,EMG frequency analysis (better than jerk-locked back-averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC. © 2006 Movement Disorder Society [source]

    Kufor Rakeb Disease: Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

    MOVEMENT DISORDERS, Issue 10 2005
    David R. Williams MBBS, FRACP
    Abstract Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile-onset, levodopa-responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It was originally described more than a decade ago, and linkage analysis identified a locus on chromosome 1p36 that was previously assigned PARK9. We have further characterized the clinical picture and specifically re-assessed the response to levodopa in the original family, in the northern highlands of Jordan. In the 4 surviving patients, there has been a narrowing of the therapeutic window for levodopa with the emergence of peak-dose dyskinesias with increased spasticity and cognitive decline. Several new features were identified, including facial-faucial-finger mini-myoclonus, visual hallucinations, and oculogyric dystonic spasms. © 2005 Movement Disorder Society [source]

    Lesion of the dorsorostral midbrain sparing the nigrostriatal tract mimics axial rigidity seen in progressive supranuclear palsy

    MOVEMENT DISORDERS, Issue 8 2005
    Jan Lewerenz MD
    Abstract We report on a patient with a residual dorsorostral midbrain lesion after resection of a pineal gland tumor. In addition to severe vertical gaze palsy, this patient exhibited other neurological features closely resembling progressive supranuclear palsy. Normal dopamine transporter single-photon emission computed tomography imaging excluded significant dopamine deficiency. We suggest that dorsorostral midbrain pathology rather than dopamine deficiency due to degeneration of nigrostriatal dopaminergic neurons or basal ganglia nuclei might be responsible for axial rigidity in extension. © 2005 Movement Disorder Society [source]

    Influence of target size on vertical gaze palsy in a pathologically proven case of progressive supranuclear palsy,

    MOVEMENT DISORDERS, Issue 7 2003
    Barry M. Seemungal MD
    Abstract We document a new oculomotor phenomenon in a patient with pathologically proven progressive supranuclear gaze palsy (PSP), namely that vertical gaze excursion improves with larger pursuit targets. We used computerised video-oculography during vertical smooth pursuit eye movements (SPEM) of circular targets of diameter 0.16 degrees and 16 degrees, sinusoidally oscillating at 0.08 Hz (peak-to-peak amplitude 49 degrees). Increasing target size improved vertical gaze excursion from 10 degrees to 25 degrees. There was no concomitant increase in slow phase eye velocity. The findings could be explained by a potentiation of the position control mechanism of pursuit by target size due to increased activation of brainstem pursuit-optokinetic pathways and to higher order attentional mechanisms. This observation may be useful in the clinical assessment of PSP patients with severe neck rigidity in whom the doll's head,eye manoeuvre cannot be performed by comparing the degree of vertical gaze palsy during smooth pursuit testing between at least two differently sized targets and observing whether there is a larger excursion in response to a large target such as a newspaper. © 2003 Movement Disorder Society [source]

    Progressive Supranuclear Palsy: Pathology and Genetics

    BRAIN PATHOLOGY, Issue 1 2007
    Dennis W. Dickson
    Progressive supranuclear palsy (PSP) is an atypical Parkinsonian disorder associated with progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Neuropathologically, the subthalamic nucleus and brainstem, especially the midbrain tectum and the superior cerebellar peduncle, show atrophy. The substantia nigra shows loss of pigment corresponding to nigrostriatal dopaminergic degeneration. Microscopic findings include neuronal loss, gliosis and neurofibrillary tangles in basal ganglia, diencephalon and brainstem. Characteristic tau pathology is also found in glia. The major genetic risk factor for sporadic PSP is a common variant in the gene encoding microtubule-associated protein tau (MAPT) and recent studies have suggested that this may result in the altered expression of specific tau protein isoforms. Imaging studies suggest that there may be sensitive and specific means to differentiate PSP from other parkinsonian disorders, but identification of a diagnostic biomarker is still elusive. [source]

    A neuro-Behcet's lesion in oculomotor nerve nucleus

    ACTA NEUROLOGICA SCANDINAVICA, Issue 2 2003
    M. D. Aydin
    Objective , Fascicular oculomotor nerve involvement is occasionally seen in Behcet's disease, but nuclear involvement is very rare. Case presentation , A 25-year-old woman presented with the Behcet's symptoms and the left eye problems. Physical examination revealed muco-cutaneous lesions, eyelid ptosis, mydriasis, upward and medial gaze palsy and lateral deviation on the left eye. Serologic tests were positive. An inflammatory lesion was detected in the left oculomotor nerve nucleus on magnetic resonance imaging. Neuro-Behcet's disease was considered the most likely diagnosis. Result , Dexamethasone treatment was ordered. Muco-cutaneal lesions, laboratory abnormalities were normalized after 1 year; but oculomotor nerve palsy persisted in spite of improvement in radiological findings. Conclusion , Clinical signs of oculomotor nerve palsy may persist despite the radiological improvement. [source]