Phenotypic Variability in a Four Generation Family With a p.Thr666Met CACNA1A Gene Mutation - 28/09/14
, Ana María Iglesias-Mohedano, MD b, María Slöcker-Barrio, MD a, María Vázquez-López, MD c, Marina García-Morín, MD a, María Concepción Miranda-Herrero, MD c, Pedro Castro-Castro, MD cAbstract |
Background |
Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are distinct neurological disorders associated with mutations in the CACNA1A gene. Phenotypic variability and clinical overlap are recognized.
Patients |
We describe a 2-year-old child with transiently decreased consciousness and clinical and radiological signs of early-onset cerebellar atrophy. The family history was significant, and 11 affected members across four generations indicated an unusually wide clinical spectrum including migraine, hemiplegia, coma, and progressive cerebellar ataxia.
Results |
The p.Thr666Met mutation of the CACNA1A gene was identified in the index patient and in five of his affected relatives who were analyzed. Our patient is the youngest one of this entity diagnosed to date.
Conclusions |
Taking into account such a wide clinical expression of these gene mutations, it could be more accurate to speak about “channel-related diseases” to characterize the clinical expression according to the genetic analysis and to the phenotypes associated with each CACNA1A gene mutation.
Le texte complet de cet article est disponible en PDF.Keywords : ataxia, CACNA1A, hemiplegic migraine, cerebellar dysfunction, calcium channel, phenotype
Plan
| M.G.-B.-H., A.M.I.-M., and M.S.-B. were equally responsible for the work described in this article. |
Vol 51 - N° 4
P. 557-559 - octobre 2014 Retour au numéro
Article précédent
- Neonatal Citrullinemia: Novel, Reversible Neuroimaging Findings Correlated With Ammonia Level Changes
- John Ruder, Joseph Legacy, George Russo, Ronald Davis
- The Microcephaly-Capillary Malformation Syndrome in Two Brothers With Novel Clinical Features
- Milen Pavlovi?, David Neubauer, Asma Al Tawari, Lada Cindro Heberle
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 ?