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Freezing of gait (FOG) is a debilitating symptom of Parkinson disease (PD). It is episodic and variable in nature, making assessment difficult. Wearable sensors used in conjunction with specialized algorithms, such as our group's pFOG algorithm, provide objective data to better understand this phenomenon. While these methods are effective at detecting FOG retrospectively, more work is needed. The purpose of this paper is to explore how the existing pFOG algorithm can be refined to improve the detection and prediction of FOG. To accomplish this goal, previously collected data were utilized to assess the prediction ability of the current algorithm, the potency of each FOG assessment task(s) for eliciting FOG, and the maintenance of detection accuracy when modifying the sampling rate. Results illustrate that the algorithm was able to predict upcoming FOG episodes, but false positive rates were high. The Go Out and Turn-Dual Task was most potent for eliciting FOG, and the 360-Dual Task elicited the longest duration of FOG. The detection accuracy of the pFOG algorithm was maintained at a sampling rate of 60 Hz but significantly worse at 30 Hz. This work is an important step in refining the pFOG algorithm for improved clinical utility. [ABSTRACT FROM AUTHOR]

After corticospinal tract (CST) stroke, several motor deficits can emerge in the upper extremity (UE), including diminished muscle strength, motor control, and muscle individuation. Both the ipsilesional CST and contralesional corticoreticulospinal tract (CReST) innervate the paretic UE, but their relationship to motor behaviors after stroke remains uncertain. In this cross-sectional study of 14 chronic stroke and 27 healthy subjects, we examined two questions: whether the ipsilesional CST and contralesional CReST differentially relate to chronic motor behaviors in the paretic arm and hand and whether the severity of motor deficits differs by proximal versus distal location. In the paretic biceps and first dorsal interosseous muscles, we used transcranial magnetic stimulation to measure the projection strengths of the ipsilesional CST and contralesional CReST. We also used quantitative testing to measure strength, motor control, and muscle individuation in each muscle. We found that stroke subjects had muscle strength comparable to healthy subjects but poorer motor control and muscle individuation. In both paretic muscles, stronger ipsilesional CST projections related to better motor control, whereas stronger contralesional CReST projections related to better muscle strength. Stronger CST projections related to better individuation in the biceps alone. The severity of motor control and individuation deficits was comparable in the arm and hand. These findings suggest that the ipsilesional CST and contralesional CReST have specialized but complementary roles in motor behaviors of the paretic arm and hand. They also suggest that deficits in motor control and muscle individuation are not segmentally biased, underscoring the functional extent and efficacy of these pathways. NEW & NOTEWORTHY: The corticospinal (CST) and corticoreticulospinal (CReST) tracts are two major descending motor pathways. We examined their relationships to motor behaviors in paretic arm and hand muscles in chronic stroke. Stronger ipsilesional CST projections related to better motor control, whereas stronger contralesional CReST projections related to better muscle strength. Stronger CST projections are also uniquely related to better biceps individuation. These findings support the notion of specialized but complementary contributions of these pathways to human motor function. [ABSTRACT FROM AUTHOR]

Bradykinesia is a term describing several manifestations of movement disruption caused by Parkinson's disease (PD), including movement slowing, amplitude reduction, and gradual decrease of speed and amplitude over multiple repetitions of the same movement. Deep brain stimulation (DBS) of the subthalamic nucleus (STN) improves bradykinesia in patients with PD. We examined the effect of DBS on specific components of bradykinesia when applied at two locations within the STN, using signal processing techniques to identify the time course of amplitude and frequency of repeated hand pronation-supination movements performed by participants with and without PD. Stimulation at either location increased movement amplitude, increased frequency, and decreased variability, though not to the range observed in the control group. Amplitude and frequency showed decrement within trials, which was similar in PD and control groups and did not change with DBS. Decrement across trials, by contrast, differed between PD and control groups, and was reduced by stimulation. We conclude that DBS improves specific aspects of movement that are disrupted by PD, whereas it does not affect short-term decrement that could reflect muscular fatigue. NEW & NOTEWORTHY: In this study, we examined different components of bradykinesia in patients with Parkinson's disease (PD). We identified different components through signal processing techniques and their response to deep brain stimulation (DBS). We found that some components of bradykinesia respond to stimulation, whereas others do not. This knowledge advances our understanding of brain mechanisms that control movement speed and amplitude. [ABSTRACT FROM AUTHOR]

Abstract Background All spinocerebellar ataxias (SCAs) are rare diseases. SCA1, 2, 3 and 6 are the four most common SCAs, all caused by expanded polyglutamine-coding CAG repeats. Their pathomechanisms are becoming increasingly clear and well-designed clinical trials will be needed. Methods To characterize the clinical manifestations of spinocerebellar ataxia (SCA) 1, 2, 3 and 6 and their natural histories in the United States (US), we conducted a prospective multicenter study utilized a protocol identical to the European consortium study, using the Scale for the Assessment and Rating of Ataxia (SARA) score as the primary outcome, with follow-ups every 6 months up to 2 years. Results We enrolled 345 patients (60 SCA1, 75 SCA2, 138 SCA3 and 72 SCA6) at 12 US centers. SCA6 patients had a significantly later onset, and SCA2 patients showed greater upper-body ataxia than patients with the remaining SCAs. The annual increase of SARA score was greater in SCA1 patients (mean ± SE: 1.61 ± 0.41) than in SCA2 (0.71 ± 0.31), SCA3 (0.65 ± 0.24) and SCA6 (0.87 ± 0.28) patients (p = 0.049). The functional stage also worsened faster in SCA1 than in SCA2, 3 and 6 (p = 0.002). Conclusions The proportions of different SCA patients in US differ from those in the European consortium study, but as in the European patients, SCA1 progress faster than those with SCA2, 3 and 6. Later onset in SCA6 and greater upper body ataxia in SCA2 were noted. We conclude that progression rates of these SCAs were comparable between US and Europe cohorts, suggesting the feasibility of international collaborative clinical studies.

Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41% of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.