Journal of neurology, neurosurgery, and psychiatry
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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
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
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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Duchenne muscular dystrophy (DMD) leads to progressive impairment of muscle function, respiratory failure and premature death. Longitudinal data on the course of physical disability and respiratory function are sparse. ⋯ Our detailed observations of the progression of physical disability, dependence on care and respiratory impairment in patients with DMD from childhood to adult life is valuable for predicting the clinical course with current medical care. Compared with historical data, survival has improved considerably.