Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome.
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.
Borroni
B
B
Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia, Italy.
Goldwurm
S
S
Cerini
C
C
Cosseddu
M
M
Meucci
N
N
Mariani
C
C
Pezzoli
G
G
Padovani
A
A
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