title: Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10.
abstract: OBJECTIVE
  To describe reduced penetrance associated with early onset in a Brazilian family with spinocerebellar ataxia type 10.
  
  
  METHODS
  Clinical examination and molecular analysis for the ATTCT repeat responsible for spinocerebellar ataxia type 10 in a patient and family members through 3 generations.
  
  
  METHODS
  Ambulatory care. Patients A 28-year-old female Brazilian patient who presented with early-onset cerebellar ataxia and epilepsy, and her 9 asymptomatic relatives. Main Outcome Measure Genotype-phenotype correlation.
  
  
  RESULTS
  Molecular testing on this patient showed an expansion of approximately 850 ATTCT repeats at the SCA10 locus. Similar SCA10 expansions of approximately 850 repeats were identified in 6 of 8 asymptomatic paternal relatives examined.
  
  
  CONCLUSIONS
  The stably transmitted pentanucleotide expansion of approximately 850 repeats may represent a mutant SCA10 allele with reduced penetrance that may express an early-onset, severe phenotype.
authors.affiliation: Genetika Laboratory, Alameda Augusto Stellfeld, Curitiba, Brazil.
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
authors.forename: Hélio A G
authors.initials: HA
authors.lastname: Teive
authors.forename: Walter O
authors.initials: WO
authors.lastname: Arruda
authors.forename: Ping
authors.initials: P
authors.lastname: Fang
authors.forename: Rui
authors.initials: R
authors.lastname: Gao
authors.forename: Misti C
authors.initials: MC
authors.lastname: White
authors.forename: Lineu C
authors.initials: LC
authors.lastname: Werneck
authors.forename: Benjamin
authors.initials: B
authors.lastname: Roa
mesh_terms: D000328:Adult; D000067736:Ataxin-10; D001938:Brazil; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology
chemical_list: C503889:ATXN10 protein, human; D000067736:Ataxin-10; D009419:Nerve Tissue Proteins