نتایج جستجو برای: spastic paraplegia

تعداد نتایج: 11676  

Journal: :Brain : a journal of neurology 2014
Matthis Synofzik Michael A Gonzalez Charles Marques Lourenco Marie Coutelier Tobias B Haack Adriana Rebelo Didier Hannequin Tim M Strom Holger Prokisch Christoph Kernstock Alexandra Durr Ludger Schöls Marcos M Lima-Martínez Amjad Farooq Rebecca Schüle Giovanni Stevanin Wilson Marques Stephan Züchner

Boucher-Neuhäuser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon Holmes syndrome). Here we uncover the genetic basis of these two syndromes, demonstrating that both clinically distinct entities are allelic for recessive mutations in the gene PNPLA6. In five of s...

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1981

2001
V. Dietz

Following central motor lesions, two forms of adaptation can be observed which lead to improved mobility: (1) the development of spastic muscle tone, and (2) the activation of spinal locomotor centers induced by specific treadmill training. Tension development during spastic gait is different from that during normal gait and appears to be independent of exaggerated monosynaptic stretch reflexes...

Journal: :The American Journal of Human Genetics 2019

Journal: :Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring 2021

Journal: :Proceedings of the Royal Society of Medicine 1964

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