4.4 Article

Sagittal kinematics and imbalance of the spine and whole body during walking in late-onset Pompe disease

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Environmental Sciences

Variability of Postural Stability and Plantar Pressure Parameters in Healthy Subjects Evaluated by a Novel Pressure Plate

Allegra Fullin et al.

Summary: This study tested the accuracy and repeatability of a novel pressure plate in static conditions and identified the most reliable parameters for assessing postural stability and foot morphology. Results showed high repeatability of pressure plate measurements for static weights and correlation with scale measurements. Load distribution and percentage in rearfoot and forefoot regions exhibited the highest repeatability during the trials.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2022)

Article Clinical Neurology

Quantitative Evaluation of Upright Posture by x-Ray and 3D Stereophotogrammetry with a New Marker Set Protocol in Late Onset Pompe Disease

Paolo De Blasiis et al.

Summary: Late Onset Pompe Disease (LOPD) patients exhibit significant weaknesses in trunk and tibialis anterior muscles, along with larger joint angles compared to the normal control group. This quantitative study using 3D Stereophotogrammetry (St) and x-Ray (xR) provides insights into postural abnormalities in LOPD patients, which are difficult to assess through direct examination.

JOURNAL OF NEUROMUSCULAR DISEASES (2021)

Article Clinical Neurology

Novel autophagic vacuolar myopathies: Phenotype and genotype features

Filomena Napolitano et al.

Summary: Autophagic vacuolar myopathies (AVMs) are a group of emerging myopathies with similar histopathological features characterized by autophagic vacuoles. Glycogen storage disease type II (GSDII) caused by deficiency of lysosomal acid alpha-glucosidase (GAA) is the most well-characterized AVM. This study aimed to investigate the mutational profiling of seven neuromuscular outpatients sharing clinical, myopathological and biochemical findings with AVMs. Results showed that in addition to GAA mutations, mutations in genes involved in lysosomal-autophagic machinery were also detected, some of which were previously unknown to be linked to human diseases.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2021)

Article Biochemistry & Molecular Biology

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

Filomena Napolitano et al.

Summary: Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase, and the late-onset form of the disease is characterized by highly variable symptoms and disease progression, with unpredictable genotype-phenotype correlation due to compound heterozygous GAA mutations. This study identified deleterious variants in genes related to autophagy, immunity, and bone metabolism contributing to the severity of clinical symptoms in LOPD patients, emphasizing the complex polygenic nature of the disease.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Neurosciences

Are there common walking gait characteristics in patients diagnosed with late-onset Pompe disease?

Chelsea Starbuck et al.

Summary: This study compared walking patterns between individuals with Late-onset Pompe disease (LOPD) and healthy individuals, finding that LOPD patients exhibited greater thoracic sway, hip adduction angles, and pelvic range of motion, and reduced hip extensor moments compared to healthy controls. LOPD patients also walked at a slower speed with decreased cadence, leading to higher gait profile scores. Despite common characteristics, there was greater variability in gait patterns observed in the LOPD group.

HUMAN MOVEMENT SCIENCE (2021)

Article Clinical Neurology

Short and long term effects of Nabiximols on balance and walking assessed by 3D-gait analysis in people with Multiple Sclerosis and spasticity.

Paolo De Blasiis et al.

Summary: The study demonstrated a short-term effect of Nabiximols on balance and walking of pwMS, which persist after 4 weeks. Patients identified as responders based on the combination of NRSs and BBS showed the best efficacy.

MULTIPLE SCLEROSIS AND RELATED DISORDERS (2021)

Article Neurosciences

The Contribution of Upper Body Movements to Dynamic Balance Regulation during Challenged Locomotion

Kim J. Bostroem et al.

FRONTIERS IN HUMAN NEUROSCIENCE (2018)

Article Endocrinology & Metabolism

The emerging phenotype of late-onset Pompe disease: A systematic literature review

Justin Chan et al.

MOLECULAR GENETICS AND METABOLISM (2017)

Article Multidisciplinary Sciences

Quantitative analysis of upright standing in adults with late-onset Pompe disease

Maria Stella Valle et al.

SCIENTIFIC REPORTS (2016)

Article Endocrinology & Metabolism

Characterization of gait in late onset Pompe disease

Paul T. McIntosh et al.

MOLECULAR GENETICS AND METABOLISM (2015)

Review Neurosciences

Summary measures for clinical gait analysis: A literature review

Veronica Cimolin et al.

GAIT & POSTURE (2014)

Article Genetics & Heredity

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Simone Sampaolo et al.

ORPHANET JOURNAL OF RARE DISEASES (2013)

Article Genetics & Heredity

Phenotypical variation within 22 families with Pompe disease

Stephan C. A. Wens et al.

ORPHANET JOURNAL OF RARE DISEASES (2013)

Article Genetics & Heredity

Toward deconstructing the phenotype of late-onset Pompe disease

Angela Schüller et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)

Article Genetics & Heredity

Infantile Pompe disease on ERT-Update on clinical presentation, musculoskeletal management, and exercise considerations

Laura E. Case et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)

Article Genetics & Heredity

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

Nadine A. M. E. van der Beek et al.

ORPHANET JOURNAL OF RARE DISEASES (2012)

Article Engineering, Biomedical

Multi-segment trunk kinematics during locomotion and elementary exercises

Alberto Leardini et al.

CLINICAL BIOMECHANICS (2011)

Article Endocrinology & Metabolism

The prevalence and impact of scoliosis in Pompe disease: Lessons learned from the Pompe Registry

Mark Roberts et al.

MOLECULAR GENETICS AND METABOLISM (2011)

Article Neurosciences

The Gait Profile Score and Movement Analysis Profile

Richard Baker et al.

GAIT & POSTURE (2009)

Article Neurosciences

Quantitative comparison of five current protocols in gait analysis

Alberto Ferrari et al.

GAIT & POSTURE (2008)

Review Medicine, General & Internal

Lysosomal storage disease 2 - Pompe's disease

Ans T. van der Ploeg et al.

LANCET (2008)

Article Neurosciences

A new anatomically based protocol for gait analysis in children

Alberto Leardini et al.

GAIT & POSTURE (2007)

Review Rehabilitation

Lumbar stabilization - Core concepts and current literature, part 1

KP Barr et al.

AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION (2005)

Article Pediatrics

Pompe disease in infants and children

PS Kishnani et al.

JOURNAL OF PEDIATRICS (2004)