title: Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome.
abstract: BACKGROUND
  Studies on familial aggregation might be of help to evaluate whether the genetic background has a key role in Progressive Supranuclar Palsy (PSP) and Corticobasal Syndrome (CBS). Only a few studies are available.
  
  
  OBJECTIVE
  To evaluate the prevalence of positive family history (FH) in PSP and CBS in a large sample of patients.
  
  
  METHODS
  Two hundred and thirty patients and 110 controls entered the study. Patients underwent an extensive clinical, neurological and neuropsychological assessment as well as a structural brain imaging study. A clinical follow-up further confirmed the diagnosis. Familial aggregation was carefully recorded by a standardised questionnaire.
  
  
  RESULTS
  One hundred and twenty-nine PSP (age at onset = 66.6 +/- 7.3, female = 46.1%) and 101 CBS (age at onset = 62.8 +/- 8.9, female = 41.6%) were consecutively enrolled. Positive FH was found in 31.8% of PSP (n = 41) and in 31.7% of CBS (n = 32). Familial aggregation was lower in the age-matched control group compared to patient group (21.8%, P = 0.05). Patients with PSP had higher positive FH for Parkinsonism (63.4%) when compared to FH for dementia (36.6%). In CBS, FH was equally distributed between Parkinsonism (53.1%) and dementia (46.9%). In addition, FH was not associated with age at disease onset in PSP (FH+ versus FH-, 67.0 +/- 7.3 vs. 66.7 +/- 7.1, P = 0.788) and in CBS (62.6 +/- 7.9 vs. 62.9 +/- 9.5, P= 0.877).
  
  
  CONCLUSIONS
  These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders. Further studies on possible genetic modulators or genetic epistasis contributing to PSP and CBS development are warranted.
authors.affiliation: Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Borroni
authors.forename: S
authors.initials: S
authors.lastname: Goldwurm
authors.forename: C
authors.initials: C
authors.lastname: Cerini
authors.forename: M
authors.initials: M
authors.lastname: Cosseddu
authors.forename: N
authors.initials: N
authors.lastname: Meucci
authors.forename: C
authors.initials: C
authors.lastname: Mariani
authors.forename: G
authors.initials: G
authors.lastname: Pezzoli
authors.forename: A
authors.initials: A
authors.lastname: Padovani
mesh_terms: D000368:Aged; D001480:Basal Ganglia Diseases / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D013494:Supranuclear Palsy, Progressive / Q000453:epidemiology / Q000235:genetics*; D013577:Syndrome