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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
Neurology, Volume 73, No. 12, Year 2009
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Description
OBJECTIVE: To determine the spectrum of clinical, neuropsychological, and neuroradiologic features in patients with autosomal recessive primary microcephaly (MCPH) due to ASPM gene mutations. METHODS: ASPM was sequenced in 52 unrelated MCPH probands. In patients with ASPM mutations, we evaluated the clinical phenotype, cognition, behavior, brain MRI, and family. RESULTS: We found homozygous or compound heterozygous ASPM loss-of-function mutations in 11 (22%) probands and 5 siblings. The probands harbored 18 different mutations, of which 16 were new. Microcephaly was severe after 1 year of age in all 16 patients, although in 4 patients the occipital-frontal circumference (OFC) at birth was decreased by only 2 SD. The OFC Z score consistently decreased after birth. Late-onset seizures occurred in 3 patients and significant pyramidal tract involvement in 1 patient. Intellectual quotients ranged from borderline-normal to severe mental retardation. Mild motor delay was noted in 7/16 patients. Language development was delayed in all patients older than 3 years. Brain MRI (n = 12) showed a simplified gyral pattern in 9 patients and several malformations including ventricle enlargement (n = 7), partial corpus callosum agenesis (n = 3), mild cerebellar hypoplasia (n = 1), focal cortical dysplasia (n = 1), and unilateral polymicrogyria (n = 1). Non-neurologic abnormalities consisted of short stature (n = 1), idiopathic premature puberty (n = 1), and renal dysplasia (n = 1). CONCLUSIONS: We provide a detailed description of features associated with ASPM mutations. Borderline microcephaly at birth, borderline-normal intellectual efficiency, and brain malformations can occur in ASPM-related primary hereditary microcephaly. © 2009 by AAN Enterprises, Inc.
Authors & Co-Authors
Passemard, Sandrine
France, Paris
Hôpital Robert-debré Ap-hp
Titomanlio, Luigi
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Elmaleh-Bergés, Monique
Unknown Affiliation
Afenjar, Alexandra
France
Service de Génétique Clinique
Alessandri, Jean Luc
France, Saint-denis
Centre Hospitalier Départemental Félix-guyon
Andria, Generoso
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Billette-De-Villemeur, Thierry
France, Paris
Hôpital Armand-trousseau
France, Paris
Sorbonne Université
Boespflüg-Tanguy, Odile
France, Clermont-ferrand
Université Clermont Auvergne
Bürglen, Lydie
France
Service de Génétique Clinique
Del Giudice, Ennio
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Guimiot, Fabien
Unknown Affiliation
Hyon, Capucine
Unknown Affiliation
Isidor, Bertrand
France, Nantes
Nantes Université
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Moog, Ute
Germany, Heidelberg
Universität Heidelberg
Odent, Sylvie
France, Rennes
Université de Rennes
Hernandez, K.
Unknown Affiliation
Pouvreau, Nathalie
Unknown Affiliation
Scala, I.
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Schaer, M.
Switzerland, Geneva
Université de Genève Faculté de Médecine
Gressens, Pierre
France, Paris
Hôpital Robert-debré Ap-hp
Gérard, Bénédicte
Unknown Affiliation
Verloès, Alain
France, Paris
Clinique de Genetique Medicale
France, Paris
Hôpital Robert-debré Ap-hp
Statistics
Citations: 114
Authors: 23
Affiliations: 16
Identifiers
Doi:
10.1212/WNL.0b013e3181b8799a
ISSN:
00283878
e-ISSN:
1526632X
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health