Epidemiology and pathophysiology of falls in facioscapulohumeral disease.

Background And Aims: Muscle weakness is a potentially important, yet poorly studied, risk factor for falls. Detailed studies of patients with specific myopathies may shed new light on the relation between muscle weakness and falls. Here falls in patients with facioscapulohumeral disease (FSHD) who suffered from lower limb muscle weakness were examined.

Increased dependence of action selection on recent motor history in Parkinson's disease.

It is well known that the basal ganglia are involved in switching between movement sequences. Here we test the hypothesis that this contribution is an instance of a more general role of the basal ganglia in selecting actions that deviate from the context defined by the recent motor history, even when there is no sequential structure to learn or implement. We investigated the effect of striatal dopamine depletion [in Parkinson's disease (PD)] on the ability to switch between independent action plans.

Sex-specific effects of fasting on urocortin 1, cocaine- and amphetamine-regulated transcript peptide and nesfatin-1 expression in the rat Edinger-Westphal nucleus.

Leptin is critical for normal food intake and energy metabolism. While leptin receptor (ObR) function has been well studied in hypothalamic feeding circuitries, the functional relevance of ObR in extrahypothalamic areas is largely unknown. Central regulatory pathways involved in food intake utilize various neuropeptides, such as urocortin 1 (Ucn1), cocaine- and amphetamine-regulated transcript peptide (CART) and nesfatin-1.

Imaging the impact of genes on Parkinson's disease.

Although Parkinson's disease (PD) has traditionally been considered to be a non-genetic disorder, recent progress in the neurogenetics of PD provided converging evidence that genetic factors play a relevant role in the etiology of PD. The strongest case for a genetic contribution to PD was made by the discovery of mutations in single genes that can cause autosomal dominant (alpha-synuclein (SNCA)) and leucine rich repeat kinase 2 (LRRK2) gene) or recessive (Parkin, PTEN-induced putative kinase 1 (PINK1), DJ-1, and ATP13A2 gene) forms of PD. Here, we review how structural and functional neuroimaging of individuals carrying a mutation in one of the PD genes has offered a unique avenue of research into the pathogenesis of PD.

Quality indicators for physiotherapy in Parkinson's disease.

Aim: The aim of this study was to develop quality indicators for physiotherapy in Parkinson's disease (PD) according to international criteria.

Methods: Indicators were based on an evidence-based guideline for physiotherapy in PD. Guideline recommendations were transformed into indicators and rated for their relevance by an expert panel.

Vestibular and proprioceptive influences on trunk movements during quiet standing.

We characterized upper trunk and pelvis motion in normal subjects and in subjects with vestibular or proprioceptive loss, to document upper body movement modes in the pitch and roll planes during quiet stance. Six bilateral vestibular loss (VL), six bilateral lower-leg proprioceptive loss (PL) and 28 healthy subjects performed four stance tasks: standing on firm or foam surface with eyes open or closed. Motion of the upper body was measured using two pairs of body-worn gyroscopes, one mounted at the pelvis and the other pair at the shoulders.

Is heart rate variability related to gait impairment in patients with Parkinson's disease? A pilot study.

Background And Purpose: Impairments in gait and autonomic function are common in patients with Parkinson's disease (PD). These are likely independent symptoms, based on different etiologic mechanisms. However, a few recent reports have observed an association between motor function, in particular gait impairment, and autonomic function in PD.

Prevalence and definition of drooling in Parkinson's disease: a systematic review.

Drooling (saliva loss) is a frequently reported symptom in patients with Parkinson's disease (PD), but an accurate estimate of the prevalence of drooling is lacking. The aim of this study was to systematically review the prevalence of drooling in published research papers. A systematic PubMed and CINAHL search was done, including studies published until January 2009.

Directional sensitivity of "first trial" reactions in human balance control.

Support-surface movements are commonly used to examine balance control. Subjects typically receive a series of identical or randomly interspersed multidirectional balance perturbations and the atypical "first trial reaction" (evoked by the first perturbation) is often excluded from further analysis. However, this procedure may obscure vital information about neurophysiological mechanisms associated with the first perturbation and, by analogy, fully unexpected falls.

Falls, faints, fits and funny turns.

In this practically oriented review, we will outline the clinical approach of patients with falls due to an impairment or loss of consciousness. Following a set of definitions, we describe the salient clinical features of disorders leading to such falls. Among falls caused by true loss of consciousness, we separate the clinical characteristics of syncopal falls (due to reflex syncope, hypovolemia, orthostatic hypotension or cardiac syncope) from falls due to other causes of transient unconsciousness, such as seizures.

Postural instability in Parkinson's disease: the adrenergic hypothesis and the locus coeruleus.

Parkinson's disease (PD) is traditionally viewed as a mainly hypodopaminergic syndrome, with symptoms resulting predominantly from loss of dopamine-producing neurons in the substantia nigra. However, while most of the cardinal motor features of PD respond well to dopaminergic therapy, many other features of the disease do not. Balance impairment and the associated risk of falling represent one of the most prominent and potentially disabling features that are typically refractory to dopaminergic treatment.

Allied health care in Parkinson's disease: referral, consultation, and professional expertise.

There is evidence for the efficacy of allied health care in Parkinson's disease (PD). However, barriers exist that hamper implementation of evidence into daily practice. We conducted a survey to investigate: (1) to what extent PD patients currently utilize allied health care for relevant problems in the core areas of allied health care and (2) the level of PD-specific expertise among allied health professionals.

Weight loss in neurodegenerative disorders.

Unintended weight loss frequently complicates the course of many neurodegenerative disorders and can contribute substantially to both morbidity and mortality. This will be illustrated here by reviewing the characteristics of unintended weight loss in the three major neurodegenerative disorders: Alzheimer's disease, Parkinson's disease and Huntington's disease. A common denominator of weight loss in these neurodegenerative disorders is its typically complex pathophysiology.

Postural instability in cerebellar ataxia: correlations of knee, arm and trunk movements to center of mass velocity.

The aim of this study was to investigate the correlations between body segment movements and center of mass (COM) velocity during pathological balance corrections of spinocerebellar ataxia (SCA) patients compared with controls, and to relate correlations indicating instability to EMG activity differences. Eighteen SCA patients and 21 age-matched controls were tested. Upright standing was perturbed using rotations of the support surface.

Executive functions are associated with gait and balance in community-living elderly people.

Background: Cognition influences gait and balance in elderly people. Executive functions seem to play a key role in this mechanism. Previous studies used only a single test to probe executive functions, and outcome measures were restricted to gait variables.

Hydrocephalus induced chorea.

Chorea can result from many causes, and the diagnostic workup can be challenging. Although often accompanied by other extrapyramidal symptoms, hydrocephalus has not been mentioned as a possible cause of chorea to date. Here we report an unusual case of chorea secondary to normal pressure hydrocephalus, which clearly improved after shunt placement.

Hydrocephalus induced chorea.

Chorea can result from many causes, and the diagnostic workup can be challenging. Although often accompanied by other extrapyramidal symptoms, hydrocephalus has not been mentioned as a possible cause of chorea to date. Here we report an unusual case of chorea secondary to normal pressure hydrocephalus, which clearly improved after shunt placement.

[Rasagiline is not for all Parkinson disease patients: the ADAGIO study].

Rasagiline is a MAO-B inhibitor that is currently registered for the symptomatic treatment of Parkinson disease. The ADAGIO trial studied the potential disease-modifying properties of rasagiline in 1100 patients with Parkinson disease, using an innovative 'delayed start' design. Patients were randomized to either immediate treatment or delayed treatment (after 9 months).

Atypical dystonic shoulder movements following neuralgic amyotrophy.

Peripherally induced movement disorders are relatively rare. Here, we present 3 patients who suffered a lesion of the brachial plexus because of neuralgic amyotrophy and developed involuntary movements of their shoulder muscles. The nature of the involuntary movements, which did not easily comply with classic descriptions of hyperkinetic movement disorders, is probably best referred to as dystonia.

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.

Background: Myoclonus-dystonia (M-D) is an autosomal dominant inherited movement disorder. Various mutations within the epsilon-sarcoglycan (SGCE) gene have been associated with M-D, but mutations are detected in only about 30% of patients. The lack of stringent clinical inclusion criteria and limitations of mutation screens by direct sequencing might explain this observation.

Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype.

Objective: To use a combined neurogenetic-neuroimaging approach to examine the functional consequences of preclinical dopaminergic nigrostriatal dysfunction in the human motor system. Specifically, we examined how a single heterozygous mutation in different genes associated with recessively inherited Parkinson disease alters the cortical control of sequential finger movements.

Methods: Nonmanifesting individuals carrying a single heterozygous Parkin (n = 13) or PINK1 (n = 9) mutation and 23 healthy controls without these mutations were studied with functional MRI (fMRI).