TY - JOUR
T1 - Hereditary spastic paraplegias
T2 - One disease for many genes, and still counting
AU - Denora, Paola S.
AU - Santorelli, Filippo M.
AU - Bertini, Enrico
PY - 2013
Y1 - 2013
N2 - Hereditary spastic paraplegias (HSPs) are genetically heterogeneous Mendelian disorders characterized by spastic gait with stiffness and weakness in the legs and an associated plethora of neurological or extraneurological signs in " complicated" forms. Major advances have been made during the past two decades in our understanding of their molecular bases with the identification of a large number of gene loci and the cloning of a set of them. The combined genetic and clinical information obtained has permitted a new, molecularly-driven classification and an improved diagnosis of these conditions. This represents a prerequisite for better counseling in families and more appropriate therapeutic options. However, further heterogeneity is expected and new insight into the possible mechanisms anticipated.
AB - Hereditary spastic paraplegias (HSPs) are genetically heterogeneous Mendelian disorders characterized by spastic gait with stiffness and weakness in the legs and an associated plethora of neurological or extraneurological signs in " complicated" forms. Major advances have been made during the past two decades in our understanding of their molecular bases with the identification of a large number of gene loci and the cloning of a set of them. The combined genetic and clinical information obtained has permitted a new, molecularly-driven classification and an improved diagnosis of these conditions. This represents a prerequisite for better counseling in families and more appropriate therapeutic options. However, further heterogeneity is expected and new insight into the possible mechanisms anticipated.
UR - http://www.scopus.com/inward/record.url?scp=84876870820&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84876870820&partnerID=8YFLogxK
U2 - 10.1016/B978-0-444-59565-2.00060-5
DO - 10.1016/B978-0-444-59565-2.00060-5
M3 - Article
C2 - 23622413
AN - SCOPUS:84876870820
VL - 113
SP - 1899
EP - 1912
JO - Handbook of Clinical Neurology
JF - Handbook of Clinical Neurology
SN - 0072-9752
ER -