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Neurology 2001;56:1230-1233
© 2001 American Academy of Neurology
Brief Communications

SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q

C. A. Hughes, MB;, P. C. Byrne, PhD;, S. Webb, MD;, P. McMonagle, MRCPI;, V. Patterson, FRCP;, M. Hutchinson, FRCP; and N. A. Parfrey, MD

From the Department of Pathology, University College Dublin and St. Vincent’s University Hospital (Drs. Hughes, Byrne, and Parfrey), and Department of Neurology, St. Vincent’s University Hospital (Drs. Webb, McMonagle, and Hutchinson), Dublin, Ireland; and Department of Neurology, Royal Victoria Hospital, Belfast, Northern Ireland (Dr. Patterson).

Address correspondence and reprint requests to Dr. P. Byrne, Department of Pathology, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Belfield, Dublin 4, Ireland; e-mail: paula.byrne{at}ucd.ie

The authors studied two families with autosomal recessive hereditary spastic paraplegia (HSP) complicated by the presence of additional symptoms of pigmented maculopathy, distal amyotrophy, dysarthria, mental retardation, and further intellectual deterioration. Evidence was obtained for linkage to a locus on chromosome 14q that is distinct from the SPG3 locus for autosomal dominant HSP (D14S77: lod score of 4.20 at zero recombination). Haplotype construction of nearby markers confirms the existence of this novel HSP locus (SPG15) and narrows it to a 19-cM interval flanked by D14S1038 and D14S61.




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