Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-ervical or upper limb onset.

Anna Rita Bentivoglio, Alberto Albanese, Tamara Ialongo, E. M. Valente, E. Cassetta, P. H. Dixon, M. B. Davis, A. Ferraris, M. Frontali, N. W. Wood

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

19 Citazioni (Scopus)

Abstract

Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant fashion. Three PTD loci (DYT1, DYT6 and DYT7) have been identified to date. However, in several PTD families linkage to the known loci has been excluded. We identified an Italian PTD family with 11 definitely affected members. Phenotype was characterised by juvenile or early-adult onset, prominent cranial-cervical and upper limb involvement, mild course and occasional generalisation. A genome- wide search performed in the family identified a novel PTD locus (DYT13) within a 22-cM interval on the short arm of chromosome 1, with a maximum lod score of 3.44 (theta = 0) between the disease and marker D1S2667.
Lingua originaleEnglish
pagine (da-a)95-96
Numero di pagine2
RivistaNeurological Sciences
Stato di pubblicazionePubblicato - 2001

Keywords

  • parkinaon disease

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