منابع مشابه
Hereditary Spastic Paraplegias
Keywords Disease name and synonyms Definition Classification Differential diagnosis Prevalence Clinical description Management including treatment Diagnostic methods Etiology Genetic counseling Antenatal diagnosis References Abstract Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spastici...
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 کاملMutation 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 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 ...
متن کاملThe hereditary spastic paraplegias: nine genes and counting.
The hereditary spastic paraplegias (HSPs) are inherited neurologic disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity weakness and spasticity. There have been great strides in our knowledge of this group of disabling disorders; 20 HSP loci and 9 HSP genes have been discovered. Insights into the molecular causes of HSPs are beginning to em...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2013
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.1956