CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia
نویسندگان
چکیده
منابع مشابه
erlin2 mutations in two iranian families with hereditary spastic paraplegia
spastic paraplegia 18 is an autosomal recessive disorder characterized by motor dysfunction, joint contracture and mental retardation. we describe two families as three cases. case 1 is a 35-year-old woman with and spasticity and mild weakness in lower limbs. case 2 and 3 are a sister and brother aged six and two respectively. the older sister suffered from lower limb spasticity, equinovarus an...
متن کاملComplicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
[This corrects the article on p. e98 in vol. 2, PMID: 27606357.].
متن کاملThe unexpected presence of SPG4 gene mutations in patients with sporadic spastic paraplegia argues in favour of gene testing in patients with pure or complicated spastic paraplegia
Authors’ affiliations C Depienne, C Tallaksen, JY Lephay, S Poea-Guyon, A Brice, A Durr, INSERM U679, Groupe Hospitalier Pitié-Salpêtrière, Paris, France C Depienne, B Bricka, A Brice, A Durr, Unité de Neurogénétique, Département de Génétique, Cytogénétique et Embryologie, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France B Fontaine, Fédération des Maladies du Système Nerveux, Groupe H...
متن کاملElectrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)
BACKGROUND Hereditary spastic paraplegias (HSPs) are characterised by lower limb spasticity due to degeneration of the corticospinal tract. We set out for an electrophysiological characterisation of motor and sensory tracts in patients with HSP. METHODS We clinically and electrophysiologically examined a cohort of 128 patients with genetically confirmed or clinically probable HSP. Motor evoke...
متن کاملMotor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61 individuals (age 5-72 years, 42 females) affected by SPOAN, a comprehensive motor and functional eva...
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ژورنال
عنوان ژورنال: European Journal of Paediatric Neurology
سال: 2016
ISSN: 1090-3798
DOI: 10.1016/j.ejpn.2016.05.013