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Novel mutations for SPG 11 in a 25-year old woman with hereditary spastic paraparesis and evidence for upper extremity involvement

โœ Scribed by Lackmayer, K.; Baumgartner, C.; Schnider, P.; Nia, S.; Baumgartner, A.; Geiblinger, S.; Leinweber-Thiel, A.; Gencik, M.; Hergovich, K.; Riederer, F.


Book ID
122704901
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
57 KB
Volume
333
Category
Article
ISSN
0022-510X

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Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2