ParkinsonCanadaV1, Main, Exploration, bibRecord, 002866

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

Identifieur interne : 002866 ( Main/Exploration ); précédent : 002865; suivant : 002867

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

Auteurs : Renato P. Munhoz [Brésil] ; Toshitaka Kawarai [Canada] ; Helio A. Teive [Brésil] ; Salmo Raskin [Brésil] ; Christine Sato [Canada] ; Yan Liang [Canada] ; Peter H. St. George-Hyslop [Canada] ; Ekaterina Rogaeva [Canada]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-02.

RBID : ISTEX:EBD221A2AE56478E52E25FFA09757AC5BECE68D1

English descriptors

KwdEn :
- SPG6, hereditary spastic paraplegia, missense mutation.

Abstract

We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP. © 2005 Movement Disorder Society

Url:

https://api-v5.istex.fr/document/EBD221A2AE56478E52E25FFA09757AC5BECE68D1/fulltext/pdf

DOI: 10.1002/mds.20775

Affiliations:

Links toward previous steps (curation, corpus...)

to stream Istex, to step Corpus: 000978
to stream Istex, to step Curation: 000978
to stream Istex, to step Checkpoint: 000C09
to stream Main, to step Merge: 002B53
to stream Main, to step Curation: 002866

Le document en format XML

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<front><div type="abstract" xml:lang="en">We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP. © 2005 Movement Disorder Society</div>
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Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri