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 ReportsLeucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy.
Leucoencephalopathy with neuroaxonal spheroids (LENAS) is a rare disease of cerebral and cerebellar white matter. LENAS usually presents as a disorder of cognition and behaviour, or with gait dysfunction and ataxia. This report describes a patient who had a 14 year course of progressive neurological decline consistent with a clinical diagnosis of probable multiple system atrophy, with prominent cerebellar dysfunction and dysautonomia. ⋯ However, magnetic resonance imaging showed extensive white matter signal abnormalities, in addition to moderate cerebral and cerebellar atrophy. On postmortem microscopic examination, there were numerous axonal spheroids throughout the white matter of both regions. This case of LENAS presented unique clinical characteristics, and typical pathological findings.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Is postural tremor size controlled by interstitial potassium concentration in muscle?
To determine whether factors associated with postural tremor operate by altering muscle interstitial K(+). ⋯ Ischaemic reduction of postural tremor has been attributed to effects on muscle spindles or an unexplained effect on muscle. This study showed that ischaemia did not reduce tremor size unless there was accompanying muscular activity. An accumulation of K(+) in the interstitium of the ischaemic active muscle may blunt the response of the muscle and reduce its fusion frequency, so that the force output becomes less pulsatile and tremor size decreases. When a beta(2) agonist is infused, the rise in tremor mirrors the resultant decrease in plasma K(+). Decreased plasma K(+) reduces interstitial K(+) concentration and may produce greater muscular force fluctuation (more tremor). Many other factors that affect postural tremor size may exert their effect by altering plasma K(+) concentration, thereby changing the concentration of K(+) in the interstitial fluid.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2004
Clinical TrialThe effect of immunomodulatory treatment on multiple sclerosis fatigue.
To assess the effects of glatiramer acetate and beta interferon on fatigue in multiple sclerosis. ⋯ The odds of reduced multiple sclerosis fatigue were around twice as great with glatiramer acetate treatment as with beta interferon. Confirmation of this result is required.