Complicated spastic paraplegia in patients withAP5Z1mutations (SPG48)
نویسندگان
چکیده
منابع مشابه
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
[This corrects the article on p. e98 in vol. 2, PMID: 27606357.].
متن کاملAP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
Hereditary spastic paraplegias (HSP) constitute a rare and highly heterogeneous group of neurodegenerative disorders, defined clinically by progressive lower limb spasticity and pyramidal weakness. Autosomal recessive HSP as well as sporadic cases present a significant diagnostic challenge. Mutations in AP5Z1, a gene playing a role in intracellular membrane trafficking, have been recently repor...
متن کاملDevelopmental and Degenerative Features in a Complicated Spastic Paraplegia
OBJECTIVE We sought to explore the genetic and molecular causes of Troyer syndrome, one of several complicated hereditary spastic paraplegias (HSPs). Troyer syndrome had been thought to be restricted to the Amish; however, we identified 2 Omani families with HSP, short stature, dysarthria and developmental delay-core features of Troyer syndrome-and a novel mutation in the SPG20 gene, which is a...
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 کاملACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
Objective To identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP). Methods Clinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP. Results A homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val)...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2016
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000098