Journal of neurology, neurosurgery, and psychiatry
-
J. Neurol. Neurosurg. Psychiatr. · Jan 2016
ReviewGenetic neurological channelopathies: molecular genetics and clinical phenotypes.
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact on almost any area of neurological practice. ⋯ Furthermore, the study of less common ion channel mutation-related diseases has increased our understanding of pathomechanisms that is relevant to common neurological diseases such as migraine and epilepsy. Here, we review the molecular genetic and clinical features of inherited neurological channelopathies.
-
J. Neurol. Neurosurg. Psychiatr. · Jan 2016
Dietary cholesterol, fats and risk of Parkinson's disease in the Singapore Chinese Health Study.
Prospective studies on lipids and risk of Parkinson's disease (PD) in Asian populations are sparse. This study prospectively examined the associations between dietary cholesterol and major fatty acids, and risk of PD among the Chinese in Singapore. ⋯ Higher intakes of cholesterol and monounsaturated fatty acids may reduce risk of PD in men and women, respectively.
-
J. Neurol. Neurosurg. Psychiatr. · Jan 2016
Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients.
Biomarkers for the diagnosis of motoneuron diseases (MND) are urgently needed to improve the diagnostic pathway, patient stratification and monitoring. The aim of this study was to validate candidate markers for MND in cerebrospinal fluid (CSF) and specify cut-offs based on large patient cohorts by especially considering patients who were seen under the initial differential diagnosis (MND mimics). ⋯ Neurofilaments in CSF have a high relevance for the differential diagnosis of MNDs and should be included in the diagnostic work-up of patients. Their value as prognostic markers should be investigated further.
-
J. Neurol. Neurosurg. Psychiatr. · Jan 2016
A nationwide survey of combined central and peripheral demyelination in Japan.
To clarify the clinical features of combined central and peripheral demyelination (CCPD) via a nationwide survey. ⋯ CCPD shows different characteristics from classical demyelinating diseases, and distinctive features exist between cases with simultaneous and temporarily separated onset of CNS and PNS involvement.
-
J. Neurol. Neurosurg. Psychiatr. · Jan 2016
Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.
To examine rare KCNJ18 variations recently reported to cause sporadic and thyrotoxic hypokalaemic periodic paralysis (TPP). ⋯ Our study shows many different, rare KCNJ18 alterations in patients as well as controls. Only perhaps one meets the requirements of a disease-causing mutation. Therefore, KCNJ18 alterations are seldom pathogenic. Additional studies are required before patients with PP can be genetically diagnosed on the basis of a KCNJ18 variant alone.