Literature DB >> 16291902

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.

M C Fahey1, M A Knight, J H Shaw, R J McK Gardner, D du Sart, P J Lockhart, M B Delatycki, P C Gates, E Storey.   

Abstract

We report our observations in an Australian family with spinocerebellar ataxia type 14 (SCA 14). We describe a novel mutation in exon 5 of the PRKCG gene, altering a highly conserved cysteine to a phenylalanine at codon 150, and record the detailed clinical observations in six affected family members.

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Year:  2005        PMID： 16291902      PMCID： PMC1739431          DOI： 10.1136/jnnp.2004.044115

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  8 in total

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5.  Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14.

Authors:  Christos Ganos; Simone Zittel; Martina Minnerop; Odette Schunke; Christina Heinbokel; Christian Gerloff; Christine Zühlke; Peter Bauer; Thomas Klockgether; Alexander Münchau; Tobias Bäumer
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6.  Single-nucleotide polymorphisms of the PRKCG gene and osteosarcoma susceptibility.

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Review 7.  Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.

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8.  Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Authors:  Viorica Chelban; Sarah Wiethoff; Bjørn K Fabian-Jessing; Nourelhoda A Haridy; Alaa Khan; Stephanie Efthymiou; Esther B E Becker; Emer O'Connor; Joshua Hersheson; Katrina Newland; Allan Thomas Hojland; Pernille A Gregersen; Suzanne G Lindquist; Michael B Petersen; Jørgen E Nielsen; Michael Nielsen; Nicholas W Wood; Paola Giunti; Henry Houlden
Journal:  Mov Disord       Date:  2018-03-30       Impact factor: 10.338
  8 in total

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