Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Apr 2009
Case ReportsFilamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.
Filamin A is an important gene involved in the development of the brain, heart, connective tissue and blood vessels. A case is presented illustrating the challenge in recognising patients with filamin A mutations. ⋯ Postmortally, the diagnosis of a filamin A mutation was confirmed. Recognition during life may prevent cardiovascular problems and provide possibilities for genetic counselling.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2009
Randomized Controlled Trial Multicenter StudyBotulinum neurotoxin versus tizanidine in upper limb spasticity: a placebo-controlled study.
While spasticity is commonly treated with oral agents or botulinum neurotoxin (BoNT) injection, these treatments have not been systematically compared. ⋯ BoNT is safer and more effective than TZD in reducing tone and disfigurement in upper-extremity spasticity, and may be considered as first-line therapy for this disorder.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2009
Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.
Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary paraparesis. However, in this disease also other signs of central nervous system involvement are frequently found. ⋯ Spastin may play an important role in the development of the central nervous system and in particular in the development of the structures of posterior fossa.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2009
Intraoperative preservation of corticospinal function in the brainstem.
The corticospinal tract features a largely exposed course through the brainstem, and is therefore at risk in many brainstem-related procedures. No large case series on motor-evoked potential (MEP) monitoring during brainstem surgery have been reported as yet. ⋯ MEP monitoring-as opposed to SEPs-is a valid indicator of corticospinal function in brainstem-related surgery, independent from the type of lesion operated on. New deficit occurs only after more pronounced MEP changes than in supratentorial surgery, but complete loss as in spinal surgery is not required. MEPs may help to prevent permanent new paresis.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2009
Onco-neural antibodies and tumour type determine survival and neurological symptoms in paraneoplastic neurological syndromes with Hu or CV2/CRMP5 antibodies.
Anti-Hu antibodies (Hu-Ab) and anti-CV2/CRMP5 antibodies (CV2/CRMP5-Ab) have been identified in association with paraneoplastic neurological disorders. However, it is not clear whether these antibodies are associated with specific neurological symptoms or are only markers of anti-cancer immune reaction. ⋯ The data demonstrate that in patients with paraneoplastic neurological syndromes, the neurological symptoms and survival vary with both the type of associated onco-neural antibody and the type of tumour.