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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
Neurology, Volume 73, No. 14, Year 2009
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Description
OBJECTIVE: Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently identified ZFYVE26 as the gene responsible for one of the clinical and genetic entities, SPG15. Our aim was to describe its clinical and mutational spectra. METHODS:: We analyzed all exons of SPG15/ZFYVE26 gene by direct sequencing in a series of 60 non-SPG11 HSP subjects with associated mental or MRI abnormalities, including 30 isolated cases. The clinical data were collected through the SPATAX network. RESULTS: We identified 13 novel truncating mutations in ZFYVE26, 12 of which segregated at the homozygous or compound heterozygous states in 8 new SPG15 families while 1 was found at the heterozygous state in a single family. Two of 3 splice site mutations were validated on mRNA of 2 patients. The SPG15 phenotype in 11 affected individuals was characterized by early onset HSP, severe progression of the disease, and mental impairment dominated by cognitive decline. Thin corpus callosum and white matter hyperintensities were MRI hallmarks of the disease in this series. CONCLUSIONS: The mutations are truncating, private, and distributed along the entire coding sequence of ZFYVE26, which complicates the analysis of this gene in clinical practice. In our series of patients with hereditary spastic paraplegia-thin corpus callosum, the largest analyzed so far, SPG15 was the second most frequent form (11.5%) after SPG11. Both forms share similar clinical and imaging presentations with very few distinctions, which are, however, insufficient to infer the molecular diagnosis when faced with a single patient. © 2009 by AAN Enterprises, Inc.
Authors & Co-Authors
Goizet, Cyril
United States, Paris
Inserm
France, Paris
Sorbonne Université
France, Bordeaux
Université de Bordeaux
Boukhris, Amir
United States, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Tunisia, Sfax
Chu Habib Bourguiba
Maltěte, David
France, Rouen
Chu Rouen Normandie
Guyant-Maréchal, L.
France, Rouen
Chu Rouen Normandie
Truchetto, Jérémy
United States, Paris
Inserm
France, Paris
Sorbonne Université
Mundwiller, Emeline
United States, Paris
Inserm
France, Paris
Sorbonne Université
Hanein, Sylvain
United States, Paris
Inserm
France, Paris
Sorbonne Université
Jonveaux, Philippe
France, Nancy
Chu de Nancy
Roelens, F.
Belgium, Roeselare
Heilig Hart Ziekenhuis
Loureiro, José Leal
Portugal, Santa Maria da Feira
Hospital so Sebastio
Godet, E.
France, Metz
Hôpital Notre Dame de Bon Secours - Centre Hospitalier Régional Metz Thionville
Forlani, Sylvie
United States, Paris
Inserm
France, Paris
Sorbonne Université
Melki, Judith
Israel, Jerusalem
Hadassah University Medical Centre
Auer-Grumbach, Michaela
Austria, Vienna
Medizinische Universität Wien
Fernandez, J. C.
United States, Paris
Inserm
France, Paris
Sorbonne Université
Martin-Hardy, P.
United States, Paris
Inserm
France, Paris
Sorbonne Université
Sibon, Igor
France, Bordeaux
Groupe Hospitalier Pellegrin
Sole, G.
France, Bordeaux
Groupe Hospitalier Pellegrin
Orignac, I.
France, Nantes
Chu de Nantes
Mhiri, Chokri
Tunisia, Sfax
Chu Habib Bourguiba
Coutinho, Paula
Portugal, Santa Maria da Feira
Hospital so Sebastio
Dürr, Alexandra
United States, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Brice, Alexis
United States, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Stévanin, Giovanni
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Statistics
Citations: 87
Authors: 24
Affiliations: 14
Identifiers
Doi:
10.1212/WNL.0b013e3181bacf59
ISSN:
00283878
e-ISSN:
1526632X
Research Areas
Genetics And Genomics
Health System And Policy