Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Oct 2012
Multicenter Study Comparative StudyOlfactory impairment in familial ataxias.
The main clinical manifestations of the spinocerebellar ataxias (SCAs) result from the involvement of the cerebellum and its connections. Cerebellar activity has been consistently observed in functional imaging studies of olfaction, but the anatomical pathways responsible for this connection have not yet been elucidated. Previous studies have demonstrated olfactory deficit in SCA2, Friedreich's ataxia and in small groups of ataxia of diverse aetiology. ⋯ The SS-16 score was significantly lower in ataxia than in the control group (p<0.001, 95% CI for β=0.55 to 1.90) and significantly higher in ataxia than in Parkinson's disease (p<0.001, 95% CI for β=-4.58 to -3.00) when adjusted for age (p=0.001, 95% CI for β=-0.05 to -0.01), gender (p=0.19) and history of tobacco use (p=0.41). When adjusted for general cognitive function, no significant difference was found between the ataxia and control groups. This study confirms previous findings of mild hyposmia in ataxia, and further suggests this may be due to general cognitive deficits rather than specific olfactory problems.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2012
Multicenter StudyPhenotypes and genetic architecture of focal primary torsion dystonia.
The focal primary torsion dystonias (FPTDs) form a group of clinical heterogeneous syndromes and can be considered a genetic complex disease; it is thought to be primed by genetic variants with variable impact and triggered by non-genetic factors. Thorough clinical description of FPTDs cohorts is sparse but essential for further progress in genetic research. ⋯ Of all of the FPTD patients, 25% had a familial predisposition; in 2.4% a Mendelian inheritance pattern was noted. With a stronger family history, a significantly lower AaO was seen in all focal dystonias. In both the sporadic and familial focal dystonia groups, AaO had an effect on the distribution of dystonia, with a caudal to cranial tendency. In all focal dystonia forms, women were more frequently affected, except for writer's cramp. Careful clinical characterisation will allow the formation of phenotype subgroups. We suggest that genetic research into FPTDs will benefit from this approach and discuss genetic research strategies to decipher the complex background of focal dystonias.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2012
ReviewThe representation of movement disorders in fictional literature.
This review considers novels, plays and poems dealing with movement disorders in order to show the relevance in the literary context. The motifs are arranged and compared following a modern neurological nosology according to Parkinson syndromes, dystonia, myoclonus, tics, hemifacial spasm, Tourette syndrome, Huntington's disease and hyperekplexia. ⋯ The symbolic connotation of the disease is of major importance, as is its social and psychological impact. Some 20th century authors transfer rhythm patterns of specific movement disorders into the textual structure, including, among others, Beckett.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2012
Case ReportsEffect of stimulation frequency on immediate freezing of gait in newly activated STN DBS in Parkinson's disease.
Patients with Parkinson's disease (PD) may develop freezing of gait (FOG) with chronic deep brain stimulation (DBS) of the subthalamic nucleus (STN) at the commonly used frequency of 130 Hz and FOG can be ameliorated by 60 Hz stimulation in some patients. It is not clear whether the development of FOG is due to the disease progression or the chronic stimulation at this 130 Hz frequency. ⋯ These two cases demonstrate that lower frequency stimulation of 60 Hz could improve FOG, while the commonly used 130 Hz stimulation could cause FOG or make it worse. In addition, the beneficial effect of low frequency DBS was additive to dopaminergic medication effect and included other axial symptoms.