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for the Hereditary Spastic Paraplegia Working Group (arranged alphabetically); From the University of Michigan Department of Neurology and the Geriatric Research and Education Center (Dr. Fink), Veterans Affairs Medical Center, Ann Arbor; Department of Neurology (Drs. Heiman-Patterson and Cambi), Thomas Jefferson University, Philadelphia, PA; Department of Neurology (Drs. Bird and Raskind), Veterans Administration Medical Center, Seattle, WA; Molecular Neurogenetics Unit (Dr. Haines), Massachusetts General Hospital, Charlestown; Department of Neurology (Dr. Rouleau and M.-P. Dube), Montreal General Hospital, Montreal, Canada; University of Rochester (Dr. Figlewicz), Neuromuscular Disease Center, New York, NY; Department of Neurology (Drs. Hentati and Siddique), Department of Neurology, Northwestern University, Chicago, IL; and the Division of Neurology (Dr. Pericak-Vance), Duke University Medical Center, Durham, NC.
Supported by grants from the Muscular Dystrophy Association (to J.K.F. and J.L.H.), National Institutes of Health (1R01 NS33645-01), American Paralysis Association, Laboratory for Education, Advancement, and Research in Neuroscience (L.E.A.R.N.), University of Michigan Human Genome Center (to J.K.F.), and National Ataxia Foundation (to M.A.P.-V.).
Received June 16, 1995. Accepted in final form October 4, 1995.
Address correspondence and reprint requests to Hereditary Spastic Paraplegia Working Group, c/o Dr. John K. Fink, Rm. 6301 Medical Science Research Building III, 1150 W. Medical Center Dr., Ann Arbor, MI 48109-0642.
Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. Insight into the genetic basis of these disorders is expanding rapidly. Uncomplicated autosomal dominant, autosomal recessive, and X-linked HSP are genetically heterogeneous: different genes cause clinically indistinguishable disorders. A locus for autosomal recessive HSP is on chromosome 8q. Loci for autosomal dominant HSP have been identified on chromosomes 2p, 14q, and 15q. One locus (Xq22) has been identified for X-linked, uncomplicated HSP and shown to be due to a proteolipoprotein gene mutation in one family. The existence of HSP families for whom these loci are excluded indicates the existence of additional, as yet unidentified HSP loci. There is marked clinical similarity among HSP families linked to each of these loci, suggesting that gene products from HSP loci may participate in a common biochemical cascade, which, if disturbed, results in axonal degeneration that is maximal at the ends of the longest CNS axons. Identifying the single gene defects that cause HSPs distal axonopathy may provide insight into factors responsible for development and maintenance of axonal integrity. We review clinical, genetic, and pathologic features of HSP and present differential diagnosis and diagnostic criteria of this important group of disorders. We discuss polymorphic microsatellite markers useful for genetic linkage analysis and genetic counseling in HSP.
NEUROLOGY 1996;46: 1507-1514
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