Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jul 2014
Dystrophin levels and clinical severity in Becker muscular dystrophy patients.
Becker muscular dystrophy (BMD) is characterised by broad clinical variability. Ongoing studies exploring dystrophin restoration in Duchenne muscular dystrophy ask for better understanding of the relation between dystrophin levels and disease severity. We studied this relation in BMD patients with varying mutations, including a large subset with an exon 45-47 deletion. ⋯ Our study shows that dystrophin levels appear not to be a major determinant of disease severity in BMD, as long as it is above approximately 10%. A significant relation between age and disease course was only found in the exon 45-47 deletion subgroup. This suggests that at higher dystrophin levels, the disease course depends more on the mutation site than on the amount of the dystrophin protein produced.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2014
ReviewThe treatment of dystonic tremor: a systematic review.
Tremor is one of the clinical manifestations of dystonia; however, there are no specific therapeutic trials evaluating the efficacy of treatments for dystonic tremor (DT), tremor associated with dystonia or primary writing tremor (PWT). We systematically reviewed the literature available up to July 2013 on the treatment of these tremors and retrieved the data of 487 patients published in 43 papers detailing the effects of given interventions on tremor severity. Treatment outcome was highly variable, depending on the specific type of intervention and tremor distribution. ⋯ Few other non-invasive treatments, for example, orthotic device in PWT, have been used with anecdotal success. In conclusion, considering the lack of good-quality studies, future randomised controlled trials are needed. In absence of evidence-based guidelines, we propose an algorithm for the treatment of DT based on currently available data.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2014
Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation.
To elucidate the long-term effects of liver transplantation (LT) on familial amyloid polyneuropathy (FAP). ⋯ FAP may shift to systemic WT TTR amyloid formation after LT, which seems to be similar to the process in SSA. The truncation of TTR in amyloid deposits may depend on some genetic or environmental factors other than undergoing LT.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2014
Predicting autoimmunity after alemtuzumab treatment of multiple sclerosis.
We have previously shown that autoimmunity following alemtuzumab treatment of multiple sclerosis can be predicted by high baseline serum interleukin IL-21 (IL-21), as measured using a now 'redundant' enzyme linked immunosorbent assay (ELISA). Here we ask whether currently available ELISAs have similar prognostic value. ⋯ Currently available IL-21 ELISA kits should not be used to counsel individuals with multiple sclerosis considering treatment with alemtuzumab.
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J. Neurol. Neurosurg. Psychiatr. · Jul 2014
Seizures after decompressive hemicraniectomy for ischaemic stroke.
The risk of seizures after malignant middle cerebral artery (MCA) infarction with decompressive hemicraniectomy (DHC) is uncertain. Also unknown is how this complication influences survivors' recovery and quality of life. ⋯ In this case series, patients were at high risk of developing seizures after malignant MCA stroke with DHC, especially after cranioplasty. Assuming these findings are replicated, means should be sought to reduce the occurrence of this complication.