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Neurology AND Movement disorders [keywords]
- Restless legs syndrome: A predictor of lower physical function. [JOURNAL ARTICLE]
- Neurology 2014 Mar 5.
Restless legs syndrome (RLS) is characterized by an urge to move the legs. The symptoms are more intense in the evening and during periods of inactivity. RLS symptoms are relieved by movement. It is classified as a sleep disorder but in many ways, it is actually a disorder of wakefulness that seems to intrude upon the ability to transition from wakefulness into sleep. Estimates on prevalence vary according to the methodology employed, but it generally affects between 3.9% and 14.3% of the population.(1) About one-third of persons are seriously enough affected to warrant treatment.(2.)
- Let sleeping dogs lie. [Journal Article]
- R I Med J (2013) 2014; 97(3):7-8.
- Increased precursor cell proliferation after deep brain stimulation for Parkinson's disease: a human study. [Journal Article]
- PLoS One 2014; 9(3):e88770.
Deep brain stimulation (DBS) has been used for more than a decade to treat Parkinson's disease (PD); however, its mechanism of action remains unknown. Given the close proximity of the electrode trajectory to areas of the brain known as the "germinal niches," we sought to explore the possibility that DBS influences neural stem cell proliferation locally, as well as more distantly.We studied the brains of a total of 12 idiopathic Parkinson's disease patients that were treated with DBS (the electrode placement occurred 0.5-6 years before death), and who subsequently died of unrelated illnesses. These were compared to the brains of 10 control individuals without CNS disease, and those of 5 PD patients with no DBS.Immunohistochemical analyses of the subventricular zone (SVZ) of the lateral ventricles, the third ventricle lining, and the tissue surrounding the DBS lead revealed significantly greater numbers of proliferating cells expressing markers of the cell cycle, plasticity, and neural precursor cells in PD-DBS tissue compared with both normal brain tissue and tissue from PD patients not treated with DBS. The level of cell proliferation in the SVZ in PD-DBS brains was 2-6 fold greater than that in normal and untreated PD brains.Our data suggest that DBS is capable of increasing cellular plasticity in the brain, and we hypothesize that it may have more widespread effects beyond the electrode location. It is unclear whether these effects of DBS have any symptomatic or other beneficial influences on PD.
- The impact and prognosis for dystonia in childhood including dystonic cerebral palsy: a clinical and demographic tertiary cohort study. [JOURNAL ARTICLE]
- J Neurol Neurosurg Psychiatry 2014 Mar 3.
The impact of dystonia in childhood is poorly understood. We report our experience of referrals between 2005 and 2012.Of 294/315 assessable children, 15/294 had pure spasticity, leaving 279/294 with dystonia classified as primary (30/279: 10.7%); primary-plus (19/279: 6.8%) and secondary (230/279: 82.4%) dystonia, including heredodegenerative dystonia (29/279: 10.3%); 150/279 (53.7%) with cerebral palsy and 51/279 (18.2%) acquired brain injury. Definitive diagnoses were available in 222/294 (79.6%), but lower in primary/primary-plus compared with secondary groups (11/49 vs 211/230: Fisher's exact test p<0.0001). Spasticity comorbidity was present in 79/230 (34.3%) children.Median age (interquartile years) at referral was 9.75 (6.58-13), not significantly differing by aetiology (Kruskal-Wallis test p>0.05); dystonia-onset age was 3 (0.5-7.0) for primary/primary-plus and 0.25 (0.08-0.8) in the secondary/CP groups. Dystonia duration at referral was 4.75 years (3.0-10.33) for primary/primary-plus groups and 7.83 (5.4-11) in the secondary group. The mean (interquartile range) proportion of life lived with dystonia, derived as dystonia duration normalised to age was 0.68 (0.31-0.96); 0.59 (0.35-0.8); 0.75 (0.62-0.95)and 0.9 (0.92-0.99) for primary, primary-plus, heredodegenerative and secondary-static dystonias respectively.Only 91/279 (32.6%) experienced a period of normal motor development. Carers perceived dystonia deterioration in 168/279 (60.2%), stabilisation in 88/279 (31.5%) and improvement in 23/279 (8.2%). Dystonia occurred in 26/225 (11.6%) siblings: 14/26 secondary and 5/26 heredodegenerative dystonia. Comorbidities were identified in 176/279 (63.1%) cases.Gross Motor Function Classification System (GMFCS) levels I-III were commoner in primary/primary-plus (37/49: 75%) compared with secondary/CP (29/230: 13%) cases, χ(2) p<0.0001).In this selective cohort, childhood dystonia is severe, presenting early before worsening without remission. Secondary dystonias spend a higher proportion of life living with dystonia and lower functional capacity. Despite referral bias, services offering neurosurgical interventions and health service planning agencies should understand the context and predicament of life with childhood dystonia.
- Paraneoplastic movement disorders in childhood. [Letter]
- Mov Disord 2014 Feb; 29(2):281.
- Brain SPECT in Sydenham's chorea in remission. [Journal Article]
- Mov Disord 2014 Feb; 29(2):256-8.
Sydenham's chorea, a major manifestation of rheumatic fever, is characterized by chorea, behavioral changes, and cognitive dysfunction. Perfusion changes in the basal ganglia are the most frequent imaging findings observed in patients with Sydenham's chorea.Twelve adult women with Sydenham's chorea in remission underwent brain single-photon emission computed tomography (SPECT). Their scans underwent a quantification process to evaluate the perfusion of Brodmann's areas of the frontal lobes and basal ganglia. The results were compared with the findings from a control group that was matched by age.A pattern of hyperperfusion in the left putamen was observed in the patient group (P = 0.02). No significant difference was observed in relation to other brain regions.The findings of brain SPECT suggest that perfusion abnormalities of the basal ganglia may persist even after the remission of abnormal movements in patients with Sydenham's chorea. © 2013 International Parkinson and Movement Disorder Society.
- The FM/AM world is shaping the future of deep brain stimulation. [Editorial]
- Mov Disord 2014 Feb; 29(2):161-3.
- MRI evaluation of grey matter atrophy and disease course in multiple sclerosis: an overview of current knowledge. [Journal Article]
- Acta Neurol Scand Suppl 2014 Apr; (198):32-6.
Multiple sclerosis (MS) is characterized by chronic inflammation of the central nervous system, and magnetic resonance imaging (MRI) is used as both a diagnostic tool and a parameter in the clinical evaluation. Multiple sclerosis was long regarded as a disease of the white matter (WM) in the brain, which can be visualized by the standard MRI used in daily practice. There is an increasing amount of evidence that grey matter (GM) pathology plays a role from the start of the MS disease and throughout the clinical course. Grey matter atrophy, both cortical and central, is present in the early course of MS and is also related above all to cognitive decline, but also to the development of physical disability as measured by EDSS. In this article, we give an overview of GM atrophy in MS evaluated by MRI and the relation to the clinical course in MS.
- Dystonia - new advances in classification, genetics, pathophysiology and treatment. [Journal Article]
- Acta Neurol Scand Suppl 2014 Apr; (198):13-9.
Dystonia is a heterogeneous movement disorder and has been defined as 'a syndrome of sustained muscle contractions, frequently causing twisted and repetitive movements, or abnormal postures'. The classification of dystonia has developed along with increasing knowledge, and different schemes have been suggested, including age at onset, body distribution, and etiology as the main differentiating factors. A revised definition and a new classification of dystonia have now been proposed by a group of leading dystonia experts and will be referred here. The discovery of the first two gene mutations causing primary generalized dystonia (DYT1-TOR1A and DYT6-THAP1) has facilitated studies on pathogenesis and pathophysiology of primary dystonias, by comparing neurophysiology between manifesting and non-manifesting carriers, and by studying the molecular biology of the mutant gene products. During recent years, several other gene mutations causing primary dystonia, dystonia-plus, and paroxysmal dystonia disorders have been discovered. Only during the last year, by the use of whole-exome sequencing techniques, mutations in three different genes in families with predominantly cervical dystonia were found, which may lead to improved insight into the pathogenesis also of the more frequent focal dystonias. Botulinum neurotoxin (BoNT) and deep brain stimulation (DBS) have revolutionized the symptomatic treatment for dystonia during the last two decades and continue to be refined to improve efficacy and expand their indications. Unfortunately, no progress has been made in the oral medication of dystonia. Current and future new insights into pathogenetic and pathophysiological mechanisms of dystonia will hopefully lead to improvement also in this area soon.
- Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. [Journal Article]
- Acta Neurol Scand Suppl 2014 Apr; (198):7-12.
Sepiapterin reductase deficiency is a rare, but treatable inherited disorder of tetrahydrobiopterin and neurotransmitter metabolism. This disorder is most probably underdiagnosed. To date, only 44 cases have been described in the literature. We present the clinical and genetic investigations in a family with a complex movement disorder.We examined two affected sisters and three healthy family members. The cerebrospinal fluid was analyzed for neurotransmitter and pterins, and the sepiapterin reductase gene (SPR) was sequenced.The sisters had a complex movement disorders with dystonia and diurnal fluctuations. Both had oculogyric crises, and the older sister also hypersomnia. Both sisters had raised prolactin levels twice above the reference level. One sister had a dramatic response to levodopa, the other responded, but developed dyskinesia despite low doses. Both patients improved dramatically over time with levodopa (2.3 and 1.5 mg/kg/day). Very low levels of homovanillic acid and 5-hydroxyindoleacetic acid and increased levels of sepiapterin and dihydrobiopterin were measured in the cerebrospinal fluid before treatment. DNA analyses revealed a novel homozygous mutation in exon 2 in the SPR gene, c.364A >G/p.(Tyr123Cys), located in a highly conserved region in the gene. Both parents and the healthy sister were carriers for the same mutation.A new homozygous mutation in the SPR gene was found in two sisters with dopa-responsive dystonia. This important and treatable neurotransmitter disorder must be considered in patients with a complex movement disorder with diurnal fluctuations with or without intellectual impairment. Patients with these symptoms should undergo levodopa trial, cerebrospinal fluid investigations, and genetic analyses.