Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

Enza Maria Valente, Francesco Brancati, Viviana Caputo, Enrico Bertini, Clarice Patrono, Danilo Costanti, Bruno Dallapiccola

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)681-685
Number of pages5
JournalAnnals of Neurology
Volume51
Issue number6
DOIs
Publication statusPublished - 2002

Fingerprint

Hereditary Spastic Paraplegia
Chromosomes
Chromosomes, Human, Pair 9
Wheelchairs
Haplotypes
Lower Extremity
Genome
Phenotype

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. / Valente, Enza Maria; Brancati, Francesco; Caputo, Viviana; Bertini, Enrico; Patrono, Clarice; Costanti, Danilo; Dallapiccola, Bruno.

In: Annals of Neurology, Vol. 51, No. 6, 2002, p. 681-685.

Research output: Contribution to journalArticle

@article{2a00cec5428d441eb8baf6290a41b016,
title = "Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34",
abstract = "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.",
author = "Valente, {Enza Maria} and Francesco Brancati and Viviana Caputo and Enrico Bertini and Clarice Patrono and Danilo Costanti and Bruno Dallapiccola",
year = "2002",
doi = "10.1002/ana.10204",
language = "English",
volume = "51",
pages = "681--685",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "6",

}

TY - JOUR

T1 - Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

AU - Valente, Enza Maria

AU - Brancati, Francesco

AU - Caputo, Viviana

AU - Bertini, Enrico

AU - Patrono, Clarice

AU - Costanti, Danilo

AU - Dallapiccola, Bruno

PY - 2002

Y1 - 2002

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0036260783&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036260783&partnerID=8YFLogxK

U2 - 10.1002/ana.10204

DO - 10.1002/ana.10204

M3 - Article

VL - 51

SP - 681

EP - 685

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 6

ER -