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Clinical and genetic study of a Brazilian family with spastic paraplegia ( SPG6 locus )
Author(s) -
Munhoz Renato P.,
Kawarai Toshitaka,
Teive Helio A.,
Raskin Salmo,
Sato Christine,
Liang Yan,
St. GeorgeHyslop Peter H.,
Rogaeva Ekaterina
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20775
Subject(s) - hereditary spastic paraplegia , paraplegia , spastic , medicine , physical medicine and rehabilitation , family history , locus (genetics) , gait disturbance , genetics , physical therapy , gene , biology , psychiatry , cerebral palsy , phenotype , spinal cord
We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1 ) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP. © 2005 Movement Disorder Society