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
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.
-
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
Case ReportsNeurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation.
To report cerebral blood flow changes during attacks of hemiplegic migraine with prolonged aura (HMPA) longer than 24 h in patients with familial hemiplegic migraine (FHM) with a novel gene mutation. ⋯ Although the perfusion state could be different depending on the time course of migraine or the timing of scans in relation to cortical spreading depression, prolonged aura symptoms in this family were frequently associated with hyperperfusion and middle cerebral artery vasodilation. Hyperperfusion tended to occur in the 'predominantly affected hemisphere,' but the mechanism of HMPA awaits further investigations on additional cases of FHM2.
-
J. Neurol. Neurosurg. Psychiatr. · Feb 2012
Convergence spasm in conversion disorders: prevalence in psychogenic and other movement disorders compared with controls.
Convergence spasm refers to transient ocular convergence, miosis and accommodation associated with disconjugate gaze mimicking abducens palsy. While it may be a manifestation of brainstem pathology, this sign is often associated with conversion (somatisation) disorders and, if unrecognised as a sign of a psychogenic disorder, it may lead to unnecessary and occasionally invasive evaluation. ⋯ Convergence spasm may provide benefit in the clinical examination of psychogenic movement disorders patients.