Family history of parkinsonism or dementia in PSP and CBS

This Italian group has been publishing lots of papers lately on genetic investigations in PSP and CBD. I don’t believe they are participating in the PSP/CBD Genetics Project.

This study of 129 PSP patients and 101 CBS patients evaluates the prevalence of family history (among first degree relatives) for dementia or parkinsonism. “Positive FH [family history] was found in 31.8% of PSP and in 31.7% of CBS. Familial aggregation was lower in the age-matched control group” (21.8%).

“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%).”

The authors conclude: “These results argue for familial aggregation in PSP and CBS, further underlying the importance of genetic background in these disorders.”

These are similar results to a Dutch study published in 2009, where the authors “reported that the 33% of the patients with PSP had at least one-first-degree relative with dementia or Parkinsonism compared to 25% of the control subjects.”

I’ve copied the abstract below.

Robin

European Journal of Neurology. 2010 May 11. [Epub ahead of print]

Familial aggregation in Progressive Supranuclear Palsy and Corticobasal Syndrome.

Borroni B, Goldwurm S, Cerini C, Cosseddu M, Meucci N, Mariani C, Pezzoli G, Padovani A.
From Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia, Italy.

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.

PubMed ID#: 20482608 (see pubmed.gov for this abstract only)