Results 71 to 80 of about 132,494 (221)

Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family [PDF]

, 2009
Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, characterised by progressive lower limb spasticity. Hereditary spastic paraplegia is clinically classified into pure and complicated forms, by the absence
Lam, CW, Chan, AYW, Chan, KY, Mak, CM, Ching, CK   +4 more
core  

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11. [PDF]

PLoS Genetics, 2015
Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs.
Rita-Eva Varga, Mukhran Khundadze, Markus Damme, Sandor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J Christopher Hennings, Patricia Franzka, Antje K Huebner, Michael M Kessels, Christoph Biskup, Thomas J Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A Hübner   +17 more
doaj   +1 more source

Biomarkers in Hereditary Spastic Paraplegias

International Journal of Molecular Sciences
Hereditary spastic paraplegias (HSPs) represent a group of neurodegenerative disorders characterized by progressive spasticity and weakness in the lower limbs, with no specific treatment available for patients. At the same time, the molecular diagnosis is complicated by the high genetic heterogeneity of this group of diseases, and it can be challenging
Emanuele Panza, Antonio Orlacchio
openaire   +4 more sources

SPG4 Hereditary Spastic Paraplegia: From Etiology to Therapy

Movement Disorders, EarlyView.
Abstract Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of heritable neurodegenerative disorders resulting from mutations in a wide variety of genes. HSP locomotor symptoms include lower limb weakness and spasticity that arise from progressive degeneration of corticospinal axons projecting from the motor cortex to the distal ...
Emanuela Piermarini, Peter W. Baas
wiley   +1 more source

Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia

, 2022
Background: Today, it is known that about 80 genes are involved in the etiology of hereditary spastic paraplegia. However, there are many cases whose etiology could not be determined by extensive genetic tests such as whole-exome sequencing, clinical ...
Ayaz, Akif, Aydın, Kürşad, Aksu Uzunhan, Tuğçe   +2 more
core   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Hereditary Macular Degenerative Disease with Spastic Paraplegia

, 1963
Hereditary macular degenerative disease with Patient has spastic paraplegia associated with hereditary macular degenerative disease. Anatomy: Retina. Pathology: Cerebellar spinal degenerative disease.
William F. Hoyt, MD
core  

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia [PDF]

, 2020
Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9.
Bart P. van de Warrenburg, Erik-Jan Kamsteeg, Sofou, Kalliopi, Meijer, Rowdy P P, de Die-Smulders, Christine, Karin Y. van Spaendonck-Zwarts, van de Kamp, Jiddeke M, van Es, Michael A, de Vries, Bert B. A., Jaeger, B., Pennings, Maartje, Christine de Die-Smulders, van de Warrenburg, Bart P., Meijer, Rowdy P.P., Rowdy P. P. Meijer, Jaeger, B, Verschuuren, Corien C., Brilstra, Eva H, van Es, Michael A., Marjolein Kriek, Judith van Gaalen, Brilstra, Eva H., Schieving, Jolanda H., Elting, Mariet W., van Gaalen, Judith, Kalliopi Sofou, Leonard H. van den Berg, Christiaan G. J. Saris, B. Jaeger, Mariet W. Elting, Zuidgeest, Dick M H, Zuidgeest, Dick M. H., van de Warrenburg, Bart P, Saris, Christiaan G. J., Kamsteeg, Erik Jan, Van Spaendonck-Zwarts, Karin Y., Schieving, Jolanda H, van de Kamp, Jiddeke M., Michael A. van Es, Dick M. H. Zuidgeest, Duijkers, Floor A, Duijkers, Floor A., Meyke I. Schouten, Bert B. A. de Vries, Floor A. Duijkers, van Spaendonck-Zwarts, Karin Y, Saris, Christiaan G J, de Vries, Bert B.A., Susanne T. de Bot, de Bot, Susanne T, van den Berg, Leonard H, Schouten, Meyke, Maartje Pennings, Eva H. Brilstra, Schouten, Meyke I., de Bot, Susanne T., Kamsteeg, Erik-Jan, Schouten, Meyke I, Elting, Mariet W, Meijer, Rowdy P. P., Zuidgeest, Dick M.H., Jacques Bruijn, de Vries, Bert B A, Corien C. Verschuuren, Jolanda H. Schieving, Kriek, Marjolein, Saris, Christiaan G.J., van den Berg, Leonard H., Verschuuren, Corien C, Bruijn, Jacques, Die-Smulders, Christine de, Jiddeke M. van de Kamp   +71 more
core   +2 more sources

Hereditary spastic paraplegia in Japan

Rinsho Shinkeigaku, 2011
The Japan Spastic Paraplegia Research Consortium (JASPAC) is conducting a nationwide clinical and genetic survey of patients with HSP in Japan. To date (July 20, 2011), 375 index patients with HSP from 42 prefectures in Japan have been registered. In 148 Japanese ADHSP families, SPG4 was the most common form, accounting for 47%, followed by SPG31 (4%),
openaire   +3 more sources

One‐Year Transcutaneous Tibial Nerve Stimulation Treatment Persistence in Lower Urinary Tract Dysfunction: Clinical and Urodynamic Associated Factors in a Prospective Observational Study

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims To assess 1‐year Transcutaneous Tibial Nerve Stimulation (TTNS) treatment persistence in routine clinical care and to explore clinical and urodynamic factors associated with treatment persistence in patients with lower urinary tract dysfunction (LUTD).
Damien Prat, Evelyne Castel‐Lacanal, Thibaut Brierre, Gaetane Foures, Camille Cormier, Xavier De Boissezon, David Gasq, Philippe Marque, Xavier Gamé, Emmeline Montané   +9 more
wiley   +1 more source