Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.
The most common causative mutation of Friedreich ataxia (FRDA) is the unstable hyperexpansion of an intronic GAA triplet repeat that impairs frataxin transcription. Using real time quantitative PCR, we showed that FRDA patients had residual levels of frataxin mRNA ranging between 13% and 30% and that FRDA carriers had about 40% of that of controls. ⋯ We found an inverse correlation between the number of GAA repeats and frataxin mRNA levels. Real-time quantitative PCR may represent an alternative assay for FRDA molecular diagnosis.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Case ReportsClinically evidenced unilateral dissociation of saccades and pursuit eye movements.
A patient affected by an ischaemic lesion of the right medial thalamic nucleus presented with a uniocular dissociation of upward vertical saccades and pursuit movement, with absent upward vertical saccades in the left eye. Clinical observations were confirmed by magnetic field scleral search coils analysis. During the vertical eye movement the patient denied any diplopia, thus suggesting a transient visual suppression in the left eye.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Personality in essential tremor: further evidence of non-motor manifestations of the disease.
To ascertain whether patients with essential tremor have distinct definable personality traits. ⋯ Patients with essential tremor scored higher on the harm avoidance subscale scores than control subjects. HA subscale scores did not correlate with the severity of tremor or with subjective and objective scales of disability, suggesting that the personality profile observed was not entirely related to functional disability caused by the tremor. Longitudinal studies of personality in essential tremor are needed to characterise the stability and evolution of these personality traits within the natural history of the disease process.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Case ReportsAnti-Hu associated paraneoplastic sensory neuronopathy with upper motor neurone involvement.
Paraneoplastic neurological syndrome is characterised by neuronal degeneration with lymphocytic infiltration in various regions of the central and peripheral nervous systems. Motor neurone symptoms may occur as a remote effect of malignancy, and have been considered because of the involvement of lower motor neurones. A case is reported of an 80 year old woman suffering from paraneoplastic sensory neuronopathy with anti-Hu antibody. ⋯ Neuronal loss with lymphocytic infiltration was found in the dorsal root ganglia, brain stem, and cerebellum. Despite the absence of upper motor neurone signs, there was severe loss of Betz cells and degeneration of the bilateral pyramidal tracts. To our knowledge, this is the first demonstration of upper motor neurone involvement in anti-Hu associated paraneoplatic syndrome.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Carotid sinus syndrome is common in dementia with Lewy bodies and correlates with deep white matter lesions.
Carotid sinus syndrome (CSS) is a common cause of syncope in older persons. There appears to be a high prevalence of carotid sinus hypersensitivity (CSH) in patients with dementia with Lewy bodies (DLB) but not in Alzheimer's disease. ⋯ Heart rate responses to CSM are prolonged in patients with DLB, causing hypotension. Deep white matter changes from microvascular disease correlated with the fall in SBP. Microvascular pathology is a key substrate of cognitive impairment and could be reversible in DLB where there are exaggerated heart rate responses to carotid sinus stimulation.