Article
Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.
Parkinsonism & related disorders - 1 Feb 2016
Carecchio Miryam, Panteghini Celeste, Reale Chiara, Barzaghi Chiara, Monti Valentina, Romito Luigi, Sasanelli Francesco, Garavaglia Barbara
Abstract excerpt
INTRODUCTION: Mutations in GNAL have been associated with adult-onset cranio-cervical dystonia, but a limited number of cases have been reported so far and the clinical spectrum associated with this gene still needs to be fully characterized. METHODS: We identified an Italian family with adult-onset, dominantly-inherited dystonia whose members presented with different combinations of dystonia affecting the...
Topics
- Deep Brain Stimulation
- Dystonic Disorders
- Female
- GTP-Binding Protein alpha Subunits
- Genetic Predisposition to Disease
- Genotype
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype