نتایج جستجو برای: spastic paraplegia

تعداد نتایج: 11676  

Journal: :Journal of rehabilitation medicine 2015
Mark de Niet Susanne T de Bot Bart P C van de Warrenburg Vivian Weerdesteyn Alexander C Geurts

OBJECTIVE Although calf muscle spasticity is often treated with botulinum toxin type-A, the effects on balance and gait are ambiguous. Hereditary spastic paraplegia is characterized by progressive spasticity and relatively mild muscle weakness of the lower limbs. It is therefore a good model to evaluate the functional effects of botulinum toxin type-A. DESIGN Explorative pre-post intervention...

2010
Antonio Orlacchio Carla Babalini Antonella Borreca Clarice Patrono Roberto Massa Sarenur Basaran Renato P. Munhoz Ekaterina A. Rogaeva Peter H. St George-Hyslop Giorgio Bernardi Toshitaka Kawarai

The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25 families with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival ...

Journal: :Annals of human genetics 1966
J R Silver

4 Familial spastic paraplegia is not a common condition ; it is believed to be a genetically determined neurological disorder, although its exact mode of inheritance and its relationship to other disorders of the nervous system are still in dispute. The usual manifestations of familial spastic paraplegia are stiffness and weakness in the lower limbs leading to difficulty in walking, the usual c...

Journal: :Archives of neurology 2004
Beate Winner Goekhan Uyanik Claudia Gross Max Lange Wilhelm Schulte-Mattler Gerhard Schuierer Joerg Marienhagen Ute Hehr Juergen Winkler

BACKGROUND Hereditary spastic paraplegia (HSP) with thin corpus callosum (CC) is a rare neurodegenerative disorder classified as a complicated form of spastic paraplegia. Some patients with HSP with thin CC have previously been described in Japanese families, and the genetic locus was linked to chromosome 15q13-15. OBJECTIVE Our objective was to further clinically and genetically characterize...

2015
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 Gregory A. Cox

Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs. SPG11 is the most common autosomal-recessive form of HSPs and is caused by mutations in SPG11. A recent in vitro study suggested that Spatacsin, the respective gene product, is needed for the recycling of lysosomes from autolyso...

Journal: :Cell 2005
Steven M. Claypool Carla M. Koehler

Defects in the mitochondrial AAA protease family member, paraplegin, result in an autosomal recessive form of hereditary spastic paraplegia (HSP). In this issue of Cell, Nolden et al. (2005) report a new molecular mechanism for HSP based on the requirement of paraplegin for the proteolysis of a specific mitochondrial ribosomal protein. The processing of this substrate is required for robust tra...

Journal: :Pakistan Journal of Medical and Health Sciences 2022

Background: Intellectual Disability “ID” is a genetic disorder, which lead to arrested or incomplete development of the brain. It limitation cognitive skills impairment and decline ability person in learning process. ID most common health problem worldwide. These patients have intellectual functions at least their two more adoptive such as reading, writing abilities, social interactions, Behavi...

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