Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2015
ReviewStiff-person syndrome: insights into a complex autoimmune disorder.
Stiff-person syndrome (SPS) is characterised by progressive rigidity and muscle spasms affecting the axial and limb muscles. Since its initial description in 1956, marked progress has been made in the clinical characterisation, understanding of pathogenesis and therapy of this disorder. SPS can be classified according to the clinical presentation into classic SPS and SPS variants: focal or segmental-SPS, jerking-SPS and progressive encephalomyelitis with rigidity and myoclonus. ⋯ Paraneoplastic SPS is commonly associated with antiamphiphysin antibodies and breast cancer. Treatment of SPS with drugs that increase the GABAergic tone combined with immunotherapy can improve the neurological manifestations of these patients. The prognosis, however, is unpredictable and spontaneous remissions are unlikely.
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Catatonia is a complex neuropsychiatric syndrome characterised by a broad range of motor, speech and behavioural abnormalities. 'Waxy flexibility', 'posturing' and 'catalepsy' are among the well-recognised motor abnormalities seen in catatonia. However, there are many other motor abnormalities associated with catatonia. ⋯ Electroconvulsive therapy is used in those patients who are resistant to medical therapy. An underlying cause of the catatonia should be identified and treated to ensure early and complete resolution of symptoms.
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A very limited number of studies report data on the clinical features of Parkinson's disease (PD) 20 years after onset and beyond. ⋯ Age at onset and disease duration are independent determinants of the clinical features of PD beyond 20 years. Non-motor symptoms depend more on age at onset rather than the disease duration itself. Non-levodopa-responsive axial symptoms are the main predictors of all relevant outcomes.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2015
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.
The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease. We analysed clinical and genetic data from patients in the INC to determine the distribution of CMT subtypes and the clinical impairment associated with them. ⋯ ID number NCT01193075.
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Stroke is a major cause of mortality in children. Conditions that mimic stroke also cause severe morbidity and require prompt diagnosis and treatment. We have investigated the time to diagnosis in a cohort of children with stroke. ⋯ The diagnosis of AIS in children is delayed at every stage of the pathway but most profoundly when the first neuroimaging is CT scanning, which is non-diagnostic. MRI should be the initial imaging modality of choice in any suspected case of childhood AIS.