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Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

✍ Scribed by J. E. Nielsen; B. Johnsen; P. Koefoed; K. H. Scheuer; M. Grønbech-Jensen; I. Law; K. Krabbe; A. Nørremølle; H. Eiberg; H. Søndergård; M. Dam; J. F. Rehfeld; C. Krarup; O. B. Paulson; L. Hasholt; S. A. Sørensen


Book ID
111064159
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
171 KB
Volume
11
Category
Article
ISSN
1351-5101

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Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most co