Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

@article{Brusse2006SpinocerebellarAA,
  title={Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype},
  author={Esther Brusse and Inge de Koning and Anneke JA Maat-Kievit and Ben A. Oostra and Peter Heutink and John Cornelis van Swieten},
  journal={Movement Disorders},
  year={2006},
  volume={21}
}
Autosomal dominant cerebellar ataxias (ADCAs) are genetically classified into spinocerebellar ataxias (SCAs). We describe 14 patients of a Dutch pedigree displaying a distinct SCA‐phenotype (SCA27) associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34. The patients showed a childhood‐onset postural tremor and a slowly progressive ataxia evolving from young adulthood. Dyskinesia was often present, suggesting basal ganglia involvement, which was… 
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype
TLDR
A case of a 70-year-old male who presented with slowly worsening tremor and gait instability that began in his early adulthood along with additional features of parkinsonism on examination is reported, and a novel pathogenic mutation in the Fibroblast Growth Factor 14 gene is revealed.
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
TLDR
The identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21, is reported, which may be a particular early-onset disease associated with severe cognitive impairment.
Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14.
Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor
  • Yi Zhao, Shulammite Lim, E. Tan
  • Medicine, Biology
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2007
TLDR
Genetic analysis of exon 4 of the FGF14 gene was conducted in a cohort of predominant Chinese patients with cerebellar ataxia and in another group of patients who presented with childhood-onset postural tremor without cerebellAR ataxian atrophy.
Spinocerebellar ataxia type 12.
Infant Spinocerebellar Ataxia Type 27: Early Presentation Due To a 13q33.1 Microdeletion Involving the FGF14 Gene
TLDR
The first case of a de novo microdeletion of 13q33.1 involving only the FGF14 gene in a child presenting with symptoms of SCA27 includes mild developmental delays, abnormal gait, and tremors beginning in the first year of life is reported.
Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27
TLDR
Clinical assessments, structural and functional neuroimaging are used to characterize these new SCA27 patients, a Swedish family with members affected by spinocerebellar ataxia 27, a rare autosomal dominant disease caused by mutations in fibroblast growth factor 14.
Genetics of Dominant Ataxias
TLDR
Overall, the causative gene is identified in about 60 % of dominant ataxias, and there is still no cure for this group of disabling degenerative diseases.
Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene
TLDR
The case of a patient with episodic dizziness and gait imbalance for 7 years and a negative family history is described, adding important new evidence to previous observations that pathogenic variants in the FGF14 gene may result in variable phenotypes, either in progressive spinocerebellar ataxia or in episodic ataxIA as in this case.
Brain pathology of spinocerebellar ataxias
TLDR
The genetic and clinical background of the known SCAs are reported, the state of neuropathological investigations of brain tissue from SCA patients in the final disease stages are presented, and detailed molecular and pathogenetic consequences remain to be determined.
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The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia, and a mutation in the fibroblast growth factor 14 gene on chromosome 13q34 is described.
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