Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · May 2007
Case ReportsCervical dystonia in spinocerebellar ataxia type 2: clinical and polymyographic findings.
Eighteen patients from three large multigenerational families with genetically established spinocerebellar ataxia type 2 (SCA2) were examined, with special attention to the presence of dystonic features. Cervical dystonia (CD) was diagnosed according to standardised clinical criteria. CD was scored using the Tsui score. ⋯ CD appears to be a common clinical feature in SCA2 and may precede ataxia and gait disturbance. By contrast, none of the 18 patients had dystonic features in other body regions. CD has probably been underreported in patients with the ataxic SCA2 phenotype and should be considered as an additional clinical manifestation in patients with hereditary ataxia.
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J. Neurol. Neurosurg. Psychiatr. · May 2007
Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations.
To investigate a possible association of mutations in the PTEN-induced putative kinase 1 (PINK1) gene with psychiatric disorders in a large family with monogenic parkinsonism. ⋯ First, affective and psychotic symptoms may be part of the phenotypic spectrum or even the sole manifestation of PINK1 mutations. Second, patients with familial movement disorders associated with psychiatric conditions may serve as a valuable study population to explore (genetic) causes of neuropsychiatric disease.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2007
Body lateropulsion as an isolated or predominant symptom of a pontine infarction.
Lateropulsion of the body--that is, falling to one side--is a well-known clinical feature of stroke in the posterior circulation. Body lateropulsion as an isolated or predominant manifestation of a pontine stroke has not been reported previously. ⋯ Based on the known anatomy of ascending vestibular pathways, SVV tilting and MRI findings, it is concluded that body lateropulsion probably results from damage to the graviceptive pathway ascending through the paramedian pontine tegmentum.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2007
Randomized Controlled Trial Multicenter StudyThe effect of cognitive behaviour therapy for chronic fatigue syndrome on self-reported cognitive impairments and neuropsychological test performance.
Patients with chronic fatigue syndrome (CFS) often have concentration and memory problems. Neuropsychological test performance is impaired in at least a subgroup of patients with CFS. Cognitive behavioural therapy (CBT) for CFS leads to a reduction in fatigue and disabilities. ⋯ CBT leads to a reduction in self-reported cognitive impairment, but not to improved neuropsychological test performance. The findings of this study support the idea that the distorted perception of cognitive processes is more central to CFS than actual cognitive performance.