Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Apr 2012
Case ReportsAtypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion.
Some patients meeting behavioural variant frontotemporal dementia (bvFTD) diagnostic criteria progress slowly and plateau at mild symptom severity. Such patients have mild neuropsychological and functional impairments, lack characteristic bvFTD brain atrophy and have thus been referred to as bvFTD 'phenocopies' or slowly progressive (bvFTD-SP). The few patients with bvFTD-SP that have been studied at autopsy have demonstrated no evidence of FTD pathology, suggesting that bvFTD-SP is neuropathologically distinct from other forms of FTD. Here, two patients with bvFTD-SP with chromosome 9 open reading frame 72 (C9ORF72) hexanucleotide expansions are described. ⋯ C9ORF72 mutations can present with a bvFTD-SP phenotype. Some bvFTD-SP patients may have neurodegenerative pathology, and C9ORF72 mutations should be considered in patients with bvFTD-SP and a family history of dementia or motor neuron disease.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2012
Comparative StudyDiagnostic criteria for corticobasal syndrome: a comparative study.
There are no well-established criteria for patients with corticobasal syndrome. The authors have attempted to clarify this area by comparing and applying three sets of well-known criteria (from Toronto, the Mayo Clinic and Cambridge). ⋯ Cognitive impairment, especially language impairment, was prominent from onset of disease. The Cambridge criteria apply to a higher proportion of cases at an early stage of corticobasal syndrome. The authors suggest a minor modification to capture the high prevalence of aphasia.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2012
Non-invasive ventilation in motor neuron disease: an update of current UK practice.
In motor neurone disease (MND), respiratory muscle weakness causes substantial morbidity, and death is usually due to respiratory failure. Non-invasive ventilation (NIV) improves symptoms, quality of life and survival, but previous surveys showed that few patients with MND received NIV. ⋯ Compared with 2000, there has been a marked increase in the number of patients referred for, and currently using, NIV (2.6 and 3.4-fold, respectively). The proportion successfully established on NIV has also increased, suggesting more appropriate selection and/or improvement in the methods of using NIV in this challenging group of patients. However, monitoring of respiratory function is suboptimal and uncontrolled oxygen is sometimes used inappropriately before the terminal phase.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2012
Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxia.
Relatively few studies have searched for potentially pathogenic antibodies in non-paraneoplastic patients with cerebellar ataxia. ⋯ Prospective studies are now needed to see whether identification of CASPR2 antibodies has relevance for the diagnosis and treatment of idiopathic cerebellar ataxia.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2012
Letter Case ReportsMyasthenia gravis can cause camptocormia.