Volume 23, Issue 3 p. 429-433
Brief Report

Spastic paraplegia 15: Linkage and clinical description of three Tunisian families

Amir Boukhris MD

Amir Boukhris MD

Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia

Faculté de Médecine de Sfax, Tunisia

INSERM, U679, Paris, France

Pierre and Marie Curie – Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France

Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP, Paris, France

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Imed Feki MD

Imed Feki MD

Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia

Faculté de Médecine de Sfax, Tunisia

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Elodie Denis BS

Elodie Denis BS

INSERM, U679, Paris, France

Pierre and Marie Curie – Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France

Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP, Paris, France

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Mohamed Imed Miladi MD

Mohamed Imed Miladi MD

Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia

Faculté de Médecine de Sfax, Tunisia

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Alexis Brice MD

Alexis Brice MD

INSERM, U679, Paris, France

Pierre and Marie Curie – Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France

Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP, Paris, France

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Chokri Mhiri MD

Chokri Mhiri MD

Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia

Faculté de Médecine de Sfax, Tunisia

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Giovanni Stevanin PhD

Corresponding Author

Giovanni Stevanin PhD

INSERM, U679, Paris, France

Pierre and Marie Curie – Paris 6 University, UMR S679, Federative Institute for Neuroscience Research (IFR70), Pitié-Salpêtrière Hospital, Paris, France

Department of Genetics and Cytogenetics, Pitié-Salpêtrière Hospital, AP-HP, Paris, France

INSERM U679, Groupe Pitié-Salpêtrière, 47 Bd de l'Hôpital, 75013 Paris, FranceSearch for more papers by this author
First published: 20 December 2007
Citations: 15

Abstract

Hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower limbs. The locus designated spastic paraplegia 15 (SPG15), located in a 16-Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. In this study, we describe three additional families, of Tunisian origin, linked to the SPG15 locus, one of which had a significant multipoint LOD score of 3.46. In accordance with previous reports, the phenotype of our patients consisted of early onset spastic paraparesis associated with mental impairment and severe progression. Retinal degeneration was not observed, however, but we extended the phenotype of this form to include peripheral neuropathy and white matter abnormalities on MRI. Interestingly, like retinal degeneration, thin corpus callosum is not a constant feature in this entity. © 2007 Movement Disorder Society