A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34
نویسندگان
چکیده
منابع مشابه
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
IMPORTANCE The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains unavailable for many patients. OBJECTIVE To identify the genetic cause for a novel form of pure autosomal dominant HSP. DESIGN, SETTING, AND PARTICIPANTS We ex...
متن کاملPhenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
We report the clinical features of 12 families with autosomal dominant spastic paraplegia (ADSP) linked to the SPG4 locus on chromosome 2p, the major locus for this disorder that accounts for approximately 40% of the families. Among 93 gene carriers, 32 (34%) were unaware of symptoms but were clinically affected. Haplotype reconstruction showed that 90% of the asymptomatic gene carriers present...
متن کاملCAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.
CAG repeat expansions have been identified as the disease-causing dynamic mutations in the coding regions of genes in several dominantly inherited neurodegenerative disorders, including spinobulbar muscular atrophy, Huntington's disease, dentatorubral-pallidoluysian atrophy, spinocerebellar ataxia type 1, 2 and 6 and Machado-Joseph disease. The CAG repeat expansions are translated to elongated ...
متن کاملUrodynamic evaluation of patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.
OBJECTIVES There are at least three clinically indistinguishable but genetically different types of autosomal dominant pure spastic paraplegia (ADPSP). Lower urinary tract symptoms are often present but have not been described in a homogeneous patient population. In this study lower urinary tract symptoms, cystometrical, and neurophysiological characteristics are described in patients with ADPS...
متن کاملA new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.
T he term hereditary spastic paraplegia (HSP) is used to describe a group of clinically and genetically heterogeneous disorders in which the defining clinical feature is progressive spasticity and weakness of the lower limbs. The phenotype is traditionally classified as ‘‘pure’’ when symptoms and signs are generally confined to those of a progressive spastic paraparesis, or ‘‘complicated’’ when...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2000
ISSN: 0002-9297
DOI: 10.1086/302776