Degree Of Gait Research Articles

Intrafamilial Heterogeneity in Spinocerebellar Ataxia Type 21 (P8-11.015)

<h3>Objective:</h3> To emphasize the variability of clinical presentations of genetic movement disorders as depicted by a family with SCA21. <h3>Background:</h3> Spinocerebellar ataxia type 21 (SCA21) is a rare autosomal dominant condition that can have a variety of motor, cognitive, or behavioral manifestations. This clinical variability is seen both between and within families with the same mutation. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> A 51-year-old woman presented to clinic for evaluation of lifelong worsening balance impairment and hand clumsiness. Her physical exam noted marked ataxia and dysmetria in the extremities, ataxic gait, and spastic extremities, and neuropsychiatric testing was remarkable for mild impairments. Following further workup, a family history of neurologic complaints was taken, which revealed that one of her three children had tremors. When brought to clinic, the patient’s daughter revealed a lifelong history of bilateral hand tremors with worsening over the previous two years. She further noted a slowness in her thinking that required special education courses, as well as other mild motor difficulties. Given the potential for a genetic condition, an ataxia panel was ordered, which revealed a c.509C&gt;Tp.P170L mutation in the TMEM240 gene in the patient and her daughter. <h3>Conclusions:</h3> This case emphasizes the importance of recognizing intrafamilial clinical heterogeneity in the diagnosis of genetic movement disorders. It highlights the potential benefits of an investigation into a family history notable for neurological disorders, which may provide the opportunity for appropriate testing and diagnosis. The variable presentations of spinocerebellar ataxias within families have been explored in a limited number of case reports. The identification of a possible unknown factor driving these differences in presentation could have potential therapeutic implications. While all reported cases of SCA21 have some degree of gait and limb ataxia, only one case has reported tremor onset followed by ataxia and dystonia, as seen in this case. <b>Disclosure:</b> Emma *Use 368242 Wetmore has nothing to disclose. Dr. Decker has nothing to disclose. Maysen Mesaros has nothing to disclose. An immediate family member of Dr. Rodriguez-Porcel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Anmeal. Dr. Rodriguez-Porcel has received publishing royalties from a publication relating to health care.

The development of mature gait patterns in children during walking and running

PurposeWe sought to identify the developing maturity of walking and running in young children. We assessed gait patterns for the presence of flight and double support phases complemented by mechanical energetics. The corresponding classification outcomes were contrasted via a shotgun approach involving several potentially informative gait characteristics. A subsequent clustering turned out very effective to classify the degree of gait maturity.MethodsParticipants (22 typically developing children aged 2–9 years and 7 young, healthy adults) walked/ran on a treadmill at comfortable speeds. We determined double support and flight phases and the relationship between potential and kinetic energy oscillations of the center-of-mass. Based on the literature, we further incorporated a total of 93 gait characteristics (including the above-mentioned ones) and employed multivariate statistics comprising principal component analysis for data compression and hierarchical clustering for classification.ResultsWhile the ability to run including a flight phase increased with age, the flight phase did not reach 20% of the gait cycle. It seems that children use a walk-run-strategy when learning to run. Yet, the correlation strength between potential and kinetic energies saturated and so did the amount of recovered mechanical energy. Clustering the set of gait characteristics allowed for classifying gait in more detail. This defines a metric for maturity in terms of deviations from adult gait, which disagrees with chronological age.ConclusionsThe degree of gait maturity estimated statistically using various gait characteristics does not always relate directly to the chronological age of the child.

Susceptibility-weighted MRI of extrapyramidal brain structures in Parkinsonian disorders.

Susceptibility-weighted MRI (SWI) is sensitive to T2∗ effects and mineralization.We investigated differences in the extrapyramidal brain structures on SWI between Parkinson disease (PD) and postural instability gait disorder (PIGD) patients and correlated the SWI values with the degree of gait dysfunction.Forty patients diagnosed with PD and PIGD underwent 3 Tesla magnetic resonance imaging (MRI) brain study. An SWI sequence (TE/TR/FA 20/33/15) was used. Ten regions of interest were placed in the midbrain and basal ganglia by 2 independent raters blinded to subject data and quantitatively evaluated.The inter-rater reliability between the raters was excellent (interclass correlation coefficient >0.8). The SWI intensity values in all regions were on average lower in PIGD than in PD patients, with the lowest results found in globus pallidus.Multivariate analysis showed a lower SWI hypointensity in the putamen and globus pallidus in PIGD compared with PD patients, with a similar trend for the other basal ganglia nuclei. Pearson correlation analysis showed a statistically significant positive correlation between SWI putaminal hypointensity and the Tinetti total score (r = 0.39, P = 0.01) in both PD and PIGD.SWI putaminal hypointensity may be a useful imaging marker in prospective evaluation for clinical progression for Parkinsonian disorders.