Journal of neurology
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Journal of neurology · Jan 2012
Case ReportsSuccessful subthalamic stimulation in genetic Parkinson's disease caused by duplication of the α-synuclein gene.
The α-synuclein gene (SNCA) multiplication causes autosomal dominant Parkinson's disease (PD). Particularly triplication, but also duplication, of the SNCA is associated with early-onset rapidly progressing parkinsonism with increased risk of cognitive impairment. There is no report about the effect and safety of Deep Brain Stimulation (DBS) in carriers of this mutation and, in general, data in patients with genetic parkinsonism are scarce. ⋯ Postoperative cognitive testing showed a decline in executive functions, mostly verbal fluency and attention shifting, compared with presurgical assessment. STN-DBS is safe and effective in patients with SNCA duplication showing a clinical pattern similar to idiopathic PD. Our case suggests that clinical phenotype rather genotype is the main predictor for DBS outcome.
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Journal of neurology · Jan 2012
Can fast-component of nystagmus on caloric vestibulo-ocular responses predict emergence from vegetative state in ICU?
The aim of the study was to determine if bedside caloric vestibulo-ocular responses (VOR) are able to predict consciousness recovery from clinically determined vegetative state (VS) in the ICU. Twenty-six severely brain injured patients that were clinically in VS were included. Horizontal VOR were tested at bedside by cold-water irrigation of the external auditory canal. ⋯ All the patients that recovered consciousness (13, 100%) presented a fast-component of nystagmus during VOR testing compared to only one of 11 patients (8%) in the group that remained unconscious. Sensitivity of fast-component of nystagmus during VOR testing to predict recovering of consciousness was 1.00, specificity was 0.92, positive predictive value was 0.93 and negative predictive value was 1.00. Bedside VOR testing in clinically VS patients seems able to predict consciousness recovery from vegetative state and could help to preclude active medical treatment withdrawal and to indicate the need for further complementary explorations, i.e. event-related potentials, functional MRI or PET-scan.
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Journal of neurology · Dec 2011
Clinical features of spinal cord sarcoidosis: analysis of 17 neurosarcoidosis patients.
The diagnosis of neurosarcoidosis is often difficult; the imaging signs of spinal cord sarcoidosis sometimes mimic those of cervical spondylotic myelopathy, which is common in elderly persons. We examined the characteristics of spinal cord sarcoidosis in Japanese patients with neurosarcoidosis. This case series identified patients with neurosarcoidosis at four general hospitals and one university hospital from April 1998 to September 2010. ⋯ Seventeen patients (nine men and eight women) were involved: six patients with spinal cord lesions accompanied by cervical spondylosis, five with cerebral lesions, three with cranial nerve lesions, two with meningitis, and one with nerve root lesions. Patients with spinal cord sarcoidosis had a higher onset age, longer duration from onset to diagnosis, reduced leukocytosis in the cerebrospinal fluid (CSF), and lower angiotensin-converting enzyme (ACE) levels in the CSF. The results of this study indicate that diagnosis of spinal cord sarcoidosis requires careful evaluation.
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Journal of neurology · Dec 2011
Case ReportsThree cases of CLIPPERS: a serial clinical, laboratory and MRI follow-up study.
The aim of the study was to further determine the pathophysiology, clinical course, MRI-features and response to therapy of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS), which has recently been proposed as a rare chronic inflammatory central nervous system disorder responsive to immunosuppressive therapy. Three patients with this rare entity underwent serial clinical and bimonthly MRI follow-up over a period of up to 16 months. Extensive laboratory work-up and brain biopsy were performed. ⋯ Histologically it is characterised by predominantly angiocentric infiltration by small mature lymphocytes. A pathogenetic relationship between the elevated IgE levels and the perivascular infiltrates can be presumed. It is responsive to immunosuppressive therapy and can require prolonged or maintenance treatment.
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Journal of neurology · Dec 2011
The role of 123I-FP-CIT-SPECT in the differential diagnosis of Parkinson and tremor syndromes: a critical assessment of 125 cases.
(123)I-FP-CIT-SPECT is useful in the differential diagnosis of Parkinson's disease (PD) and tremor syndromes. Recently, there have been reports on normal nigrostriatal uptake of radio ligands in PD patients, referred to as scans without evidence of dopaminergic deficit (SWEDDs). Furthermore, a dopaminergic deficit has been described in some cases of different tremor types. ⋯ DAT SPECT offers an objective method to confirm or exclude a dopaminergic deficit in tremor predominant parkinsonism for clinically inconclusive cases. There was no evidence of a decrease in DAT binding in the majority of patients with postural and/or kinetic tremor. The striatal asymmetry index is a further helpful tool for differentiating PD from non-PD tremor syndromes.