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The autosomal dominant form of "pure" familial spastic paraplegia

Clinical findings and linkage analysis of a large pedigree

Eunice Kennedy Shriver Center for Mental Retardation, Inc. (Drs. Boustany, Martin, and Kolodny), Waltham, MA, and the Neurology Department, Massachusetts General Hospital, Boston, MA; The Center for Blood Research (Drs. Fleischnick and Alper), Boston, MA and The Neuropsychiatric Institute (Drs. Marazita and Spence), UCLA, Los Angeles, CA.

We studied 33 affected members in a family with autosomal dominant "pure" familial spastic paraplegia (FSP). Symptoms began in the fourth or fifth decade, expression varied, and progression was slow. We excluded close linkage to the HLA locus (distal end of short arm of chromosome 6); C8 - locus (proximal end of short arm of chromosome 1); PGMl (middle region of short arm of chromosome 1); and P blood group (location unkown). Although there was no statistically significant linkage between FSP and any of the other markers, lod scores were positive with loci for GC (vitamin D binding globulin) located on chromosome 4 (4q11-q13) and Rh located on chromosome 1 (1 p34-p36).

Address correspondence and reprint requests to Dr. Boustany, Eunice Kennedy Shriver Center for Mental Retardation, 200 Trapelo Road. Waltham, MA 02254.

Supported in part by NIH grants HD04147 (R.N.B., E.H.K.), AI 14157, AM 26844, HL 29583, and HD 17461 (C.A.A.).

Received May 19, 1986. Accepted for publication in final form September 5, 1986.

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