Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Oct 2012
Case Reports Multicenter StudyBenign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by childhood onset that tends to improve in adulthood. The associated gene, NKX2-1 (previously called TITF1), is essential for organogenesis of the basal ganglia, thyroid and lungs. The aim of the study was to refine the movement disorders phenotype. We also studied disease course and response to therapy in a large series of genetically proven patients. ⋯ Early onset chorea preceded by hypotonia is suggestive of BHC. Associated thyroid or respiratory disorders further support the diagnosis and call for genetic studies. Tetrabenazine may be an interesting option to treat disabling chorea.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2012
ReviewNormal and pathological gait: what we learn from Parkinson's disease.
Gait and balance disorders represent a major therapeutic challenge in Parkinson's disease (PD). These symptoms respond poorly to dopaminergic treatments, except in the early phase of the disease. Currently, no other treatment is particularly efficient and rehabilitation appears to be the most effective approach. ⋯ We also highlight the brain networks involved in gait and balance control in animals and humans with a particular focus on the relevant structures in the context of PD, such as the mesencephalic locomotor region. We also review other neuronal systems that may be involved in the physiopathology of gait and balance disorders in PD (noradrenergic and serotoninergic systems, cerebellum and cortex). In addition, we review recent evidence regarding functional neurosurgery for gait disorders in PD and propose new directions for future therapeutic research.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2012
ReviewImaging gait disorders in parkinsonism: a review.
Gait difficulties--including freezing of gait--are frequent and disabling symptoms of advanced Parkinson's disease and other parkinsonian syndromes. They respond poorly to current medical and surgical treatments, making patient management very difficult. The underlying pathophysiology remains largely unknown. ⋯ Here the main functional and metabolic neuroimaging studies aimed at identifying these cerebral networks are reviewed, in both healthy subjects and parkinsonian patients. After a brief overview of the physiology and pathophysiology of gait control, the methodology, main results and limits of the studies published to date are examined. The most promising methods to examine gait difficulties and their response to currently available treatments are then discussed.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2012
ReviewFunctional brain imaging of cognitive dysfunction in Parkinson's disease.
Multiple factors are involved in the development of cognitive impairment in Parkinson's disease (PD) and related disorders. Notably, several underlying factors, such as monoaminergic dysfunction, Lewy body pathology, Alzheimer disease-like pathology and cerebrovascular disease are implied in the PD pathophysiology of cognitive impairment. The mesocortical dopaminergic system is associated with executive functions which are frequently affected in PD and are influenced by local levodopa concentration, dopamine metabolism and baseline performance status. ⋯ Metabolism/perfusion change associated with cognitive impairment in PD, so-called PD related cognitive pattern, is characterised by reduced frontoparietal activity and is an effective way to differentiate and monitor cognitive function of individual PD patients. Cognitive impairment in PD cannot be explained by a single mechanism and is entangled by multiple factors. Imaging studies can unravel each pathological domain, further shed light on the interrelation between different pathomechanisms, not only in PD but also in other dementia related disorders, and thereby integrate its interpretation to apply to therapeutics in individual patients.