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

  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},
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… 

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype

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.

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 ZhaoShulammite LimE. Tan
  • Medicine, Biology
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2007
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.

SCA27 caused by a chromosome translocation: further delineation of the phenotype

Clinically, both patients show signs of SCA, although the daughter is the most affected with early onset cerebellar ataxia, microcephaly, and severe mental retardation, which suggests that haploinsuffiency of FGF14 can cause SCA27.

Spinocerebellar ataxia type 12.

Infant Spinocerebellar Ataxia Type 27: Early Presentation Due To a 13q33.1 Microdeletion Involving the FGF14 Gene

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

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.



A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

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.

Spinocerebellar ataxia type 8: Clinical features in a large family

The biologic relationship between repeat length and ataxia indicates that the CTG repeat is directly involved in SCA8 pathogenesis.

Spinocerebellar ataxia type 2. Genotype and phenotype in German kindreds.

Investigation of German families of German ancestry with ADCA and patients with sporadic ataxia for the SCA2 mutation found expanded alleles were unstable during meiosis; paternal transmission especially caused significant anticipation of onset up to 26 years earlier.

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia

The clinical symptoms of 12 patients of a four-generation family with ADCA are investigated and it is concluded that this family represents a clinically and genetically distinct form of SCA.

Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians

Spinocerebellar ataxias (SCAs) are heterogeneous dominantly inherited neurodegenerative disorders, clinically characterized by variable degrees of cerebellar and brainstem degeneration and

Clinical and genetic analysis of 4 Mexican families with spinocerebellar ataxia type 10

Clinical and molecular findings of 18 patients in four Mexican families withSCA10 suggest that a wide range of tissues may be affected in SCA10, including those outside of the cerebellum and cerebral cortex.

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

The mutation was highly unstable during transmission, with a mean increase of 10 +/- 16 CAG repeats, which was significantly greater in paternal than in maternal transmissions, and correlated well with the marked anticipation observed in the families.

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.

A large French family with autosomal dominant cerebellar ataxia (ADCA) that was excluded from all previously identified spinocerebellarAtaxia genes and loci is examined, finding significant evidence for linkage to chromosome 19q13.3- q13.4.

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)

It is concluded that SCA17 is rare among white SCA patients and should be considered in sporadic and familial cases of ataxia with accompanying psychiatric symptoms and dementia.