Matches in SemOpenAlex for { <https://semopenalex.org/work/W1601474700> ?p ?o ?g. }
- W1601474700 abstract "Publisher Summary This chapter provides an overview on hereditary spastic paraplegias (HSPs). HSPs are a group of diseases with great clinical and genetic heterogeneity. Progressive spasticity and weakness of the lower limbs with mild vibratory sense impairment and bladder dysfunction are, historically and by definition, their clinical core, corresponding pathologically to the degeneration of the longest spinal axonal pathways, corticospinal tracts, and medial posterior columns. Clinical heterogeneity is expressed in variable presentations, in variable age at onset and severity, and in pure and complex forms. In complex forms, diverse neurologic and extraneurologic features are added to the corticospinal syndrome. Genetic heterogeneity is well expressed by the 25 loci known: 10 for autosomal dominant (AD)-HSP, 12 for autosomal recessive (AR)-HSP, and 3 for X-linked HSP. Eleven genes are known: 6 for AD-HSP, 3 for AR-HSP, and 2 for X-linked HSP, corresponding to 11 encoded products (L1CAM, PLP, atlastin, spastin, NIPA1, paraplegin, KIF5A, Hsp60, seipin, spartin, and maspardin). Many types of different mutations in each locus also contribute to this extreme heterogeneity." @default.
- W1601474700 created "2016-06-24" @default.
- W1601474700 creator A5024824252 @default.
- W1601474700 creator A5063901385 @default.
- W1601474700 date "2007-01-01" @default.
- W1601474700 modified "2023-09-27" @default.
- W1601474700 title "Chapter 16 Overview on Hereditary Spastic Paraplegias" @default.
- W1601474700 cites W102225794 @default.
- W1601474700 cites W1498629854 @default.
- W1601474700 cites W1506466708 @default.
- W1601474700 cites W1558794500 @default.
- W1601474700 cites W1568386317 @default.
- W1601474700 cites W1630688947 @default.
- W1601474700 cites W165886759 @default.
- W1601474700 cites W1733541714 @default.
- W1601474700 cites W180826610 @default.
- W1601474700 cites W1963927664 @default.
- W1601474700 cites W1965479740 @default.
- W1601474700 cites W1968068652 @default.
- W1601474700 cites W1969350747 @default.
- W1601474700 cites W1969807302 @default.
- W1601474700 cites W1971616671 @default.
- W1601474700 cites W1971998465 @default.
- W1601474700 cites W1975345061 @default.
- W1601474700 cites W1975799594 @default.
- W1601474700 cites W1977898715 @default.
- W1601474700 cites W1982312755 @default.
- W1601474700 cites W1982991308 @default.
- W1601474700 cites W1983685921 @default.
- W1601474700 cites W1985383166 @default.
- W1601474700 cites W1985847551 @default.
- W1601474700 cites W1989495140 @default.
- W1601474700 cites W1992002234 @default.
- W1601474700 cites W1992308819 @default.
- W1601474700 cites W1992760181 @default.
- W1601474700 cites W2000846025 @default.
- W1601474700 cites W2001362301 @default.
- W1601474700 cites W2001558134 @default.
- W1601474700 cites W2004006205 @default.
- W1601474700 cites W2004138170 @default.
- W1601474700 cites W2004986948 @default.
- W1601474700 cites W2005274995 @default.
- W1601474700 cites W2013203409 @default.
- W1601474700 cites W2013683300 @default.
- W1601474700 cites W2013910899 @default.
- W1601474700 cites W2014958191 @default.
- W1601474700 cites W2016676786 @default.
- W1601474700 cites W2017482047 @default.
- W1601474700 cites W2017613737 @default.
- W1601474700 cites W2017632004 @default.
- W1601474700 cites W2018382970 @default.
- W1601474700 cites W2020865850 @default.
- W1601474700 cites W2022421778 @default.
- W1601474700 cites W2028477851 @default.
- W1601474700 cites W2029779521 @default.
- W1601474700 cites W2029944189 @default.
- W1601474700 cites W2031248158 @default.
- W1601474700 cites W2032835120 @default.
- W1601474700 cites W2033753081 @default.
- W1601474700 cites W2034079834 @default.
- W1601474700 cites W2034582883 @default.
- W1601474700 cites W2035752440 @default.
- W1601474700 cites W2036380584 @default.
- W1601474700 cites W2037122125 @default.
- W1601474700 cites W2037378414 @default.
- W1601474700 cites W2037973912 @default.
- W1601474700 cites W2038055445 @default.
- W1601474700 cites W2038084832 @default.
- W1601474700 cites W2038418237 @default.
- W1601474700 cites W2040928510 @default.
- W1601474700 cites W2045914157 @default.
- W1601474700 cites W2047845962 @default.
- W1601474700 cites W2051059194 @default.
- W1601474700 cites W2051712226 @default.
- W1601474700 cites W2055196885 @default.
- W1601474700 cites W2055197986 @default.
- W1601474700 cites W2060050174 @default.
- W1601474700 cites W2061634736 @default.
- W1601474700 cites W2063311879 @default.
- W1601474700 cites W2064440569 @default.
- W1601474700 cites W2066252692 @default.
- W1601474700 cites W2066257834 @default.
- W1601474700 cites W2066296131 @default.
- W1601474700 cites W2068619217 @default.
- W1601474700 cites W2071744573 @default.
- W1601474700 cites W2071969909 @default.
- W1601474700 cites W2072033427 @default.
- W1601474700 cites W2076537660 @default.
- W1601474700 cites W2077318431 @default.
- W1601474700 cites W2079142805 @default.
- W1601474700 cites W2080277985 @default.
- W1601474700 cites W2082134228 @default.
- W1601474700 cites W2082908799 @default.
- W1601474700 cites W2083692802 @default.
- W1601474700 cites W2084139954 @default.
- W1601474700 cites W2084151924 @default.
- W1601474700 cites W2085515092 @default.
- W1601474700 cites W2086115504 @default.
- W1601474700 cites W2089183377 @default.
- W1601474700 cites W2091123967 @default.