The 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
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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 Hospitalier Pitié-Salpêtrière, Paris, France P Labauge, Service de Neurologie, CHU Montpellier-Nîmes, Hôpital Caremeau, Nîmes, France JMG Online First, published on July 31, 2005 as 10.1136/jmg.2005.035311
منابع مشابه
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by progressive spasticity of the lower limbs. AD-FSP has been divided into pure and complicated forms. Pure AD-FSP is genetically heterogeneous; three loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4), and 15q (SPG6), whereas no loci responsible for complicated f...
متن کاملMutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.
BACKGROUND Hereditary spastic paraplegia (HSP), a genetically and clinically heterogeneous group of neurodegenerative disorders, is characterized by progressive lower limb weakness and spasticity. Among the 8 loci associated with the autosomal dominant uncomplicated HSP (AD-HSP), the spastin (SPG4) and atlastin (SPG3A) genes have been known to account for approximately 40% and 10% of all cases,...
متن کاملThree novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.
BACKGROUND Hereditary spastic paraplegia is a group of genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs. The most common form of hereditary spastic paraplegia is caused by mutations in the spastin gene (SPG4), which encodes spastin, an adenosine triphosphatase associated with various cellular activities protein. OBJECTIVE To inve...
متن کاملHereditary Spastic Paraplegia Exon Deletions of SPG 4 are a Frequent Cause
Background: Point mutations in SPG4, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic paraplegia (AD-HSP). Standard methods for genetic analyses miss, however, exonic microdeletions. Objective and Methods: We screened 121 mutation-negative probands for rearrangements in SPG4 by multiplex ligation-dependent probe amplification (MLPA). Results: We identifie...
متن کاملHereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.
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 or presence of additional neurological or extra-neurological features. Hereditary spastic paraplegias follow all modes of inheritance and the ...
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تاریخ انتشار 2005