Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Case ReportsNeurological manifestations of phaeochromocytomas and secretory paragangliomas: a reappraisal.
To determine the frequency and range of neurological manifestations of phaeochromocytomas and secretory paragangliomas. ⋯ Neurological manifestations of phaeochromocytomas and secretory paragangliomas were common, and these tumours can present with various neurological manifestations. The paroxysmal symptoms can be incorrectly attributed to other headache syndromes, panic attacks or cerebral vasculitis. RCVS may play a role in the pathogenesis of the neurological symptoms associated with acute crises and paroxysmal attacks.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
ReviewParkinson's disease subtypes: lost in translation?
Like many neurodegenerative disorders, Parkinson's disease (PD) is clinically highly heterogeneous. A number of studies have proposed and defined subtypes of PD based on clinical features that tend to cluster together. ⋯ We then discuss what the subtypes could tell us about the disease and how they have been incorporated into studies of aetiology, progression and treatment. Finally, with the knowledge that they have been incorporated very little into PD clinical research, we make recommendations for how subtypes should be used and make some practical recommendations to address this lack of knowledge translation.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Case Reports Multicenter StudyTremor in primary adult-onset dystonia: prevalence and associated clinical features.
To investigate the frequency and the main clinical features of tremor in primary adult-onset dystonia (PAOD). ⋯ Tremor is a relatively common feature occurring in about 17% of patients with primary late-onset dystonia. The association between tremor and dystonia spread suggests that this form of tremor may be a dystonic manifestation. Similarities in phenotypic features of DT and TAWD predominated over differences, suggesting that the two forms of tremor may be manifestations of the same disease. Differences in gender and body distribution of tremor between patients with dystonia and tremor and those of patients with essential tremor also suggest that tremor in dystonia and essential tremor are different entities.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Dissociations and similarities in motor intention and motor awareness: the case of anosognosia for hemiplegia and motor neglect.
To confront motor awareness in anosognosia for hemiplegia (AHP), where paralyzed patients deny their motor impairment, and in motor neglect (MN), where non-paralyzed patients behave as if they were paretic. ⋯ Although different in terms of motor intention and motor planning, AHP and MN are both characterised by anosognosia for the motor impairment.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Case ReportsJapanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.
A GGGGCC hexanucleotide repeat expansion in C9ORF72 occurs on a chromosome 9p21 locus that is linked with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in white populations. The diseases resulting from this expansion are referred to as 'c9FTD/ALS'. It has been suggested that c9FTD/ALS arose from a single founder. However, the existence of c9FTD/ALS in non-white populations has not been evaluated. ⋯ C9ORF72 repeat expansions were present in a Japanese cohort of ALS patients, but they were rare. Intriguingly, Japanese patients appear to carry the same risk haplotype identified in white populations.