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1: Mov Disord. 2006 Feb;21(2):279-81.Click here to read Links

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

Munhoz RP, Kawarai T, Teive HA, Raskin S, Sato C, Liang Y, St George-Hyslop PH, Rogaeva E.

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.

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. Copyright (c) 2005 Movement Disorder Society.

PMID: 16267846 [PubMed - indexed for MEDLINE]