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Herein, we report a new locus, named SPG34, for a pure form of X-linked hereditary spastic paraplegia (HSP) in a large Brazilian family followed by our group since 1976 [1]. In 2002, a study of seven patients suggested linkage to Xq22. 2 [2]. We now were able to perform a more comprehensive clinical and molecular evaluation, including five patients not previously ascertained, and reassigned the putative locus to Xq25.

After Institutional Review Board approval, we genotyped 12 affected individuals (aged 24 to 79 years), one unaffected 60-year-old man, and 11 women (aged 40 to 81), seven of which were obligate carriers (Fig. 1). Neurological examination was performed in 11 of the 12 affected men and in all obligate women carriers. Age of onset varied from 12 to 25 years but was sometimes difficult to be determined. The clinical phenotype was stereotyped, and shuffling gait was