Recent advances in the genetics of spastic paraplegias.
Curr Neurol Neurosci Rep. 2008-05-01; 8(3): 198-210
DOI: 10.1007/s11910-008-0032-z
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1. Curr Neurol Neurosci Rep. 2008 May;8(3):198-210.
Recent advances in the genetics of spastic paraplegias.
Stevanin G(1), Ruberg M, Brice A.
Author information:
(1)INSERM / UPMC Univ Paris-6 UMR_S679, Groupe Hospitalier Pitié-Salpêtrière, 47
Bd de l’Hôpital, 75013 Paris, France.
Hereditary spastic paraplegias (HSPs) are genetically heterogeneous mendelian
disorders characterized by weakness and spasticity in the lower limbs associated
with additional neurologic signs in « complex » or « complicated » forms. Major
advances have been made during the past two decades in our understanding of their
molecular bases. The mapping of 34 genes (17 of which have been identified)
involved in this clinically diverse group of disorders has highlighted their
great genetic heterogeneity. From the combined genetic and clinical information
obtained, a new classification is now emerging that will help to better diagnose
this condition, evaluate disease progression, guide follow-up, and permit genetic
counselling. Evidence is now accumulating that at least part of the
physiopathology results from abnormal intracellular trafficking, as well as from
altered cell recognition and signaling, oligodendroglial dysfunction,
mitochondrial defects, and impaired cholesterol and/or neurosteroid metabolism.
DOI: 10.1007/s11910-008-0032-z
PMID: 18541115 [Indexed for MEDLINE]