Journal of neurology, neurosurgery, and psychiatry
-
J. Neurol. Neurosurg. Psychiatr. · Feb 2012
Case ReportsAdult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Inherited ataxias are heterogeneous disorders affecting both children and adults. The primary cause can be identified in about half of the patients and only very few can receive causative therapy. ⋯ These observations highlight the importance of screening for a potentially treatable cause, CABC1/ADCK3 mutations, not only in severe childhood-onset ataxia, but also in patients with mild cerebellar ataxia in adult life.
-
J. Neurol. Neurosurg. Psychiatr. · Feb 2012
Cognitive deficits following anti-NMDA receptor encephalitis.
Anti-NMDA receptor (NMDAR) encephalitis is a recently characterised autoimmune disorder mainly affecting young women. Although the clinical features of the acute disease are well characterised, cognitive long-term outcome has not been examined in detail. ⋯ Our results suggest that cognitive deficits constitute a major long-term morbidity of anti-NMDAR encephalitis. These deficits relate to the distribution of NMDARs in the human brain and their functional role in normal cognition. Good cognitive long-term outcome may depend on early and aggressive treatment.
-
J. Neurol. Neurosurg. Psychiatr. · Feb 2012
When a minor head injury results in enduring symptoms: a prospective investigation of risk factors for postconcussional syndrome after mild traumatic brain injury.
A significant proportion (15-30%) of patients with mild traumatic brain injury (MTBI) are at risk of developing postconcussional syndrome (PCS). The aim of this study was to investigate the contributions of cognitive, emotional, behavioural and social factors to the development of PCS and identify early predictors. ⋯ The study provides good support for the proposed cognitive behavioural model. Patients' perceptions of their head injury and their behavioural responses play important roles in the development of PCS, indicating that cognitive and behavioural factors may be potential targets for early preventive interventions.
-
J. Neurol. Neurosurg. Psychiatr. · Feb 2012
Grey matter atrophy in cognitively impaired Parkinson's disease.
Mild cognitive impairment and dementia are common non-motor features of Parkinson's disease (PD). The aim of this study was to characterise grey matter changes associated with clearly defined stages of cognitive impairment in PD using structural MRI. ⋯ Marked grey matter atrophy occurs in PD with dementia but far less extensive changes are evident in PD-MCI. Some grey matter atrophy precedes the development of dementia but may be accelerated once frank dementia begins.
-
J. Neurol. Neurosurg. Psychiatr. · Feb 2012
Risk factors for spinal cord lesions in dystonic cerebral palsy and generalised dystonia.
Cervical myelopathy (CM) in patients with cerebral palsy (CP) is underdiagnosed as symptoms of spinal cord lesions, being similar to those due to dystonia, may be overlooked or identified late. The aim of this study is to identify the risk factors and clinical characteristics of CM in patients with generalised dystonia, including dystonic CP. ⋯ As severity of cervical dystonia and age are the major risk factors for spinal cord lesions, dystonic patients, including patients with dystonic CP, should be screened for CM from the third decade of life onwards. Early recognition of CM is crucial for functional prognosis and impact on autonomy.