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01-07-2010 | ORIGINAL ARTICLE

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

Authors: K. G. Meilleur, M. Traoré, M. Sangaré, A. Britton, G. Landouré, S. Coulibaly, B. Niaré, F. Mochel, A. La Pean, I. Rafferty, C. Watts, D. Shriner, M. T. Littleton-Kearney, C. Blackstone, A. Singleton, K. H. Fischbeck

Published in: Neurogenetics | Issue 3/2010

Abstract

We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43.

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Title: Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
Authors: K. G. Meilleur
M. Traoré
M. Sangaré
A. Britton
G. Landouré
S. Coulibaly
B. Niaré
F. Mochel
A. La Pean
I. Rafferty
C. Watts
D. Shriner
M. T. Littleton-Kearney
C. Blackstone
A. Singleton
K. H. Fischbeck
Publication date: 01-07-2010
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 3/2010
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-009-0230-0

At a glance: The STEP trials

Springer Medicine

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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