Huntington's disease (HD) pre-manifest mutation carriers (PMCs) present early-onset gait disturbances. Gait initiation encompasses the preparation and execution of the first step. By using paradigms with and without external cues, a gait initiation analysis can highlight the interaction between motor and cognitive aspects of movement preparation and execution. Hence, gait initiation disorders may constitute particularly interesting early markers of HD. The objective of the present study was to quantify gait initiation in PMCs. In a case-control study, 17 PMCs (median age: 36.5) were compared with a group of 25 healthy controls (HCs, median age: 36) for gait initiation and a group of 57 HCs (median age: 38) for gait. Presymptomatic mutation carriers displayed a shorter first step duration and lower-amplitude postural adjustments. For the first step duration and speed, these impairments were more pronounced under self-triggered (ST) conditions. The PMCs displayed a lower gait speed, cadence and stride length and higher stride-to-stride variability. The latter parameter seemed capable of differentiating between PMCs and HCs with adequate sensitivity (0.81) and specificity (0.87). We confirmed the early-onset impairment of gait in general and first step execution in particular in PMCs (particularly under ST conditions). The temporal parameters of step execution (e.g. duration) and spatial parameters of postural adjustment (e.g. a backward shift in the centre of pressure) may be worth investigating as early markers of HD. However, two such parameters (stride-to-stride variability and first step duration under ST conditions) already appear to be sufficiently reliable diagnostic tools for differentiating between PMCs and HCs.
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http://dx.doi.org/10.1016/j.gaitpost.2011.04.011 | DOI Listing |
Acta Neurol Belg
January 2025
Department of Pediatrics, Neurology Unit, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey.
Introduction: Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.
Case Report: A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait.
Sci Rep
January 2025
Department of Dermatology, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, China.
Brodalumab, a humanized monoclonal antibody that targets the interleukin-17 receptor A, is primarily used to manage moderate-to-severe plaque psoriasis. Although it has demonstrated favorable efficacy and safety in clinical trials, the strict inclusion and exclusion criteria may not fully reflect its safety profile in real-world settings. As its use becomes more widespread in clinical practice, understanding its safety in real-world applications is crucial.
View Article and Find Full Text PDFCerebellum
January 2025
Department of Neurology, Donders Institute for Brain, Cognition & Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Repeat expansions in the fibroblast growth factor 14 gene (FGF14), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here, we present a patient with residual symptom of gait ataxia after complicated meningioma surgery, who presented with progressive symptoms of oculomotor disturbances, speech difficulties, vertigo and worsening of gait imbalance, twelve years post-resection. Neuroimaging revealed a surgical resection cavity in the dorsolateral side of the left cerebellar hemisphere, accompanied by gliosis in left cerebellar hemisphere extending into the vermis, extensive non-specific supratentorial periventricular white matter abnormalities, and mild atrophy of the cerebellar vermis.
View Article and Find Full Text PDFScand J Pain
January 2025
Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario, Canada.
Objective: The objective of this scoping review was to investigate the available literature on physical and quality of life (QoL) outcomes of underwater treadmill exercise trials in clinical chronic pain samples.
Methods: A scoping search of studies of the effectiveness of underwater treadmill exercise trials from 1947 to 2024 was conducted using the following databases: EMBASE, MEDLINE, SPORTDiscus, CINAHL, and Cochrane Reviews. To be included, studies were required to have included adult participants living with chronic pain (defined as pain lasting for 3 months or longer) who participated in an active underwater treadmill exercise intervention.
Curr Med Imaging
January 2025
Department of Radiology, Beijing Friendship Hospital, Capital Medical University, No. 95, Yong An Road, Xicheng District, Beijing 100050, China.
Background: The neuroanatomical basis of white matter fiber tracts in gait impairments in individuals suffering from Parkinson's Disease (PD) is unclear.
Methods: Twenty-four individuals living with PD and 29 Healthy Controls (HCs) were included. For each participant, two-shell High Angular Resolution Diffusion Imaging (HARDI) and high-resolution 3D structural images were acquired using the 3T MRI.
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