I attended a PSP research symposium recently and there was quite a bit of discussion about the genetic risk for PSP, whether that risk was inherited, and whether first-degree relatives of those with autopsy-confirmed PSP have subtle neurological changes themselves.
This is a study published this summer on MSA and PSP. In France, from April 2000 to December 2003, 71 people who are first-degree relatives of those with MSA (not pathologically-confirmed MSA), 71 age-matched controls, 79 people who are first-degree relatives of those with PSP (not path-confirmed PSP), and 79 age-matched controls were studied to determine if the “first-degree relatives of patients with MSA or PSP were at increased risk of Parkinsonism or dementia.”
The researchers found:
* “No significant familial aggregation was found in PSP.”
* “MSA cases reported Parkinsonism more often, but not dementia in their first-degree relatives than controls.”
Since the study was conducted so long ago, I’m not sure why it’s just being published now. The diagnostic criteria by which it was determined if the patients had MSA or PSP are somewhat dated.
A major shortcoming of the study is that the MSA and the PSP diagnoses given to first-degree relatives have not been confirmed upon brain autopsy. Also, those who participated in the study were not examined to confirm any reports they may have made of parkinsonism or dementia.
I’ve copied the abstract below.
Journal of Neurology. 2010 Aug;257(8):1388-93. Epub 2010 Jul 13.
Familial aggregation in atypical Parkinson’s disease: a case control study in multiple system atrophy and progressive supranuclear palsy.
Vidal JS, Vidailhet M, Derkinderen P, Tzourio C, Alpérovitch A.
Intramural Research Program, Laboratory of Epidemiology, Demography and Biometry, National Institute on Aging, National Institutes of Health, Bethesda, MD.
Familial aggregation has been consistently found in PD, but it is unclear whether there is a familial aggregation in families of patients with multiple system atrophy (MSA) or progressive supranuclear palsy (PSP). MSA and PSP cases were recruited from a two-arm case control study. One control was matched to each case for age, gender and living area. Medical history of first-degree relatives was obtained through a face-to-face questionnaire. Age-specific cumulative incidence of Parkinsonism and dementia in first-degree relatives of cases and controls was compared for MSA and PSP separately. Seventy-one pairs for MSA and their controls and 79 pairs for PSP and their controls were included. No significant familial aggregation was found in PSP. MSA cases reported Parkinsonism more often, but not dementia in their first-degree relatives than controls. MSA patients, but not those with PSP, have Parkinsonism more often in their first-degree relatives than controls.