Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

doi:10.1016/j.parkreldis.2015.12.012

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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...

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Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

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