Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Comparative StudyComparison of activities of daily living impairments in Parkinson's disease patients as defined by the Pill Questionnaire and assessments by neurologists.
To compare the clinical judgment of experienced neurologists after interviewing Parkinson's disease (PD) patients and their caregivers with the use of the Pill Questionnaire to determine the presence of impairments on activities of daily living (ADL). ⋯ A comprehensive interview is essential to determine the presence of ADL impairment in PD patients, especially in patients with early PD.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia.
Friedreich ataxia (FRDA) is a neurodegenerative disease caused by mutations in the frataxin (FXN) gene, resulting in reduced expression of the mitochondrial protein frataxin. Improved understanding of the pathophysiology of the disease has led to a growing need for informative biomarkers to assess disease progression and response to therapeutic intervention. ⋯ Frataxin measurements from peripheral tissues can be used to identify FRDA patients and carriers. While multiple cell types and assays may be useful for diagnostic purposes, each assay and cell type used has its advantages and disadvantages depending on study design and scope.
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While cognition can be affected during sensorimotor multiple sclerosis (MS) relapses, the relevance of isolated cognitive relapses (ICRs ie, those occurring in absence of new sensorimotor symptoms) remain poorly characterised. Here, we decided to explore the relationship between ICR, subjective evaluation of cognitive performance and long-term cognitive decline in a group of subjects with relapsing-remitting MS. ⋯ We showed that ICRs were not associated with changes in mood, fatigue levels or cognitive performance self-evaluations. Our study introduces an operational definition of ICRs and suggests to their role as a factor for cognitive decline in MS.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Case ReportsAutosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
Autosomal-recessive hereditary spastic paraplegias (AR-HSP) consist of a genetically diverse group of neurodegenerative diseases characterised by pyramidal tracts dysfunction. The causative genes for many types of AR-HSP remain elusive. We tried to identify the gene mutation for AR-HSP with cerebellar ataxia and neuropathy. ⋯ We diagnosed these patients as having adult CHS presenting spastic paraplegia with cerebellar ataxia and neuropathy. The clinical spectrum of CHS is broader than previously recognised. Adult CHS must be considered in the differential diagnosis of AR-HSP.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Practice GuidelineConsensus on guidelines for stereotactic neurosurgery for psychiatric disorders.
For patients with psychiatric illnesses remaining refractory to 'standard' therapies, neurosurgical procedures may be considered. Guidelines for safe and ethical conduct of such procedures have previously and independently been proposed by various local and regional expert groups. ⋯ This consensus document on ethical and scientific conduct of psychiatric surgery worldwide is designed to enhance patient safety.