Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.
Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. Seven loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have already been mapped on chromosomes 14q, 2p, 15q, 8p, 12q, 19q, and 2q. We report on an Italian family affected by ADPHSP for which we excluded linkage with the known loci and performed a genome-wide search. Linkage analysis and haplotype construction permitted the identification of a novel ADPHSP locus on the long arm of chromosome 9, designated SPG19. The phenotype was characterized by late onset (range, 36-55 years) and mild disability, with only 1 patient bound to a wheelchair after 31 years of disease. Urinary disturbances (urgency and/or incontinence) were always present, even in young patients with a short disease history.
Neurogenetics, C.S.S. Mendel Institute, Viale Regina Margherita 261, I-00168 Rome, Italy. e.valente@css-mendel.it
Enza Maria
EM
Valente
Francesco
F
Brancati
Viviana
V
Caputo
Enrico
E
Bertini
Clarice
C
Patrono
Danilo
D
Costanti
Bruno
B
Dallapiccola
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology