title: Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.
abstract: We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and spastic paraparesis with amyotrophy. Bilateral cataracts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spastic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic disorders have been localized. The spectrum of phenotypic manifestations in this family is reminiscent of a smaller pedigree, reported recently, confirming the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the condition.
authors.affiliation: Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Largo G. Gaslini n. 5, 16148 Genova Quarto, Italy. genseq@tin.it
authors.forename: M
authors.initials: M
authors.lastname: Seri
authors.forename: R
authors.initials: R
authors.lastname: Cusano
authors.forename: P
authors.initials: P
authors.lastname: Forabosco
authors.forename: R
authors.initials: R
authors.lastname: Cinti
authors.forename: F
authors.initials: F
authors.lastname: Caroli
authors.forename: P
authors.initials: P
authors.lastname: Picco
authors.forename: R
authors.initials: R
authors.lastname: Bini
authors.forename: V B
authors.initials: VB
authors.lastname: Morra
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: M
authors.initials: M
authors.lastname: Silengo
authors.forename: I
authors.initials: I
authors.lastname: Pela
authors.forename: C
authors.initials: C
authors.lastname: Borrone
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: M
authors.initials: M
authors.lastname: Devoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D020968:Brachial Plexus Neuritis / Q000235:genetics; D002386:Cataract / Q000235:genetics; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D005260:Female; D005764:Gastroesophageal Reflux / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D008969:Molecular Sequence Data; D015493:Paraparesis, Tropical Spastic / Q000235:genetics; D010375:Pedigree; D013577:Syndrome