Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement - 06/10/17
Abstract |
Background |
Mutations in AFG3L2, a gene encoding a subunit of the mitochondrion m-AAA protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy.
Methods |
Retrospective review of the patient charts including their clinical evaluation and molecular genetic, neurodiagnostic, and neuroradiological investigations.
Results |
We describe five members of a large consanguineous family with a severe mitochondrial disease phenotype in the form of regression of the developmental milestones in the first year of life, refractory epilepsy, progressive microcephaly, increased blood lactate, basal ganglia involvement, and premature death. Exome sequencing showed homozygous mutation of the AFG3L2 gene in all individuals: c.1714G>A (p.Ala572Thr).
Conclusions |
Our findings add to the phenotypic, neuroradiological, genetic, and biochemical spectrum of AFG3L2 mutations.
Le texte complet de cet article est disponible en PDF.Keywords : AFG3L2, basal ganglia, early onset seizures, neurodegeneration
Plan
| Funding Source: No funding was secured for this study. |
|
| Financial Disclosure: The authors have no financial relationships relevant to this article to disclose. |
|
| Conflicts of Interest: The authors have no conflicts of interest to disclose. |
|
| Informed Consent: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from the patients for being included in the study. No animals were used in this study. A copy of the written consent is available for review by the Editor-in-Chief of this journal. |
Vol 71
P. 24-28 - juin 2017 Retour au numéro
Article précédent
- Cannabidiol Treatment for Refractory Seizures in Sturge-Weber Syndrome
- Emma H. Kaplan, Elizabeth A. Offermann, Jacqueline W. Sievers, Anne M. Comi
- Growth and Psychological Development in Postoperative Patients With Anterior Encephaloceles
- Hemonta Kumar Dutta, Chow Wachana Khangkeo, Kaberi Baruah, Debasish Borbora
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?