Results 181 to 190 of about 132,494 (221)
Some of the next articles are maybe not open access.
Journal of Pediatric Orthopaedics, 1988
Hereditary spastic paraplegia is a genetically transmitted disease that is usually autosomal dominant. Characterized by a slow progression of spastic paraparesis, it is frequently misdiagnosed as cerebral palsy. Our experience consists of six families with a total of 26 affected members.
S C, Dennis, N E, Green
openaire +2 more sources
Hereditary spastic paraplegia is a genetically transmitted disease that is usually autosomal dominant. Characterized by a slow progression of spastic paraparesis, it is frequently misdiagnosed as cerebral palsy. Our experience consists of six families with a total of 26 affected members.
S C, Dennis, N E, Green
openaire +2 more sources
Genetic and phenotypic characterization of complex hereditary spastic paraplegia [PDF]
Brain, 2016 The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological ...
Claudia Manzoni +2 more
exaly +2 more sources
Hereditary spastic paraplegias: an update
Current Opinion in Neurology, 2007Hereditary spastic paraplegias are a genetically heterogeneous group of diseases. Recent advances concerning their nosology and molecular bases have greatly improved the genetic diagnosis of these diseases, with implications for genetic counselling. The recent identification of new genes and loci, however, has blurred the distinction between hereditary
Christel, Depienne +3 more
openaire +2 more sources
The hereditary spastic paraplegias
Journal of Neurology, 1999The hereditary spastic paraplegias are a complex group of neurodegenerative conditions which are characterised by slowly progressive lower limb spasticity. This article describes the main clinical features of pure and complicated hereditary spastic paraplegias and summarises recent advances in our understanding of the molecular genetics of these ...
openaire +2 more sources
Genetics of Hereditary Spastic Paraplegias
Seminars in Neurology, 2011Hereditary spastic paraplegias (HSPs) are clinically and genetically highly heterogeneous. The key symptom of spastic paraparesis of lower limbs can be complicated by a variety of signs and symptoms including cognitive impairment, optic atrophy, cerebellar ataxia, peripheral nerve involvement, or seizures.
Rebecca, Schüle, Ludger, Schöls
openaire +2 more sources
Advances in the hereditary spastic paraplegias
Experimental Neurology, 2003This review summarizes advances in understanding the genetics of the hereditary spastic paraplegias (HSPs), a diverse group of inherited disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity spastic weakness. Twenty HSP loci and nine HSP genes have been discovered.
openaire +2 more sources
The hereditary spastic paraplegias
2005The hereditary spastic paraplegias (HSPs) are a group of more than 90 genetic disorders in which lower extremity spasticity and weakness are either the primary neurologic impairments ("uncomplicated HSP") or when accompanied by other neurologic deficits ("complicated HSP"), important features of the clinical syndrome.
openaire +2 more sources
Advances in hereditary spastic paraplegia
Current Opinion in Neurology, 1997Hereditary spastic paraplegia refers to a group of clinically similar disorders whose primary feature is insidiously progressive lower extremity weakness and spasticity. Hereditary spastic paraplegia is genetically diverse: loci for autosomal recessive (chromosome 8p), autosomal dominant (chromosome 2p, 14q, and 15q), and x-linked hereditary spastic ...
openaire +2 more sources
2018
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurologic disorders with the common feature of prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. The HSPs exist not only in "pure" forms but also in "complex" forms that are associated with additional neurologic
openaire +2 more sources
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurologic disorders with the common feature of prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. The HSPs exist not only in "pure" forms but also in "complex" forms that are associated with additional neurologic
openaire +2 more sources
HEREDITARY (FAMILIAL) SPASTIC PARAPLEGIA
Archives of Neurology And Psychiatry, 1952SINCE 1876, 1 a heredofamilial disease has been known in which the only disturbance, or the most prominent disturbance, has been a slowly progressive weakness and spasticity of the lower extremities. Contributions by Strumpell 2 and Lorrain 3 have led writers to designate this disease by their names.
openaire +2 more sources