Sensory Neuropathy in Spinocerebellar Ataxia Type 14: A Novel Phenotype
Author:
Affiliation:
1. Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India
Publisher
Medknow
Subject
Neurology (clinical)
Reference10 articles.
1. Spinocerebellar ataxia type 14:Refining clinicogenetic diagnosis in a rare adult-onset disorder;Schmitz-Hübsch;Ann Clin Transl Neurol,2021
2. Missense mutations in the regulatory domain of PKC gamma:A new mechanism for dominant nonepisodic cerebellar ataxia;Chen;Am J Hum Genet,2003
3. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma;Yabe;Arch Neurol,2003
4. A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14;Alonso;J Hum Genet,2005
5. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene;Koht;Acta Neurol Scand,2012
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