Abstract
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.
Similar content being viewed by others
References
Autere JM, Moilanen JS, Myllyla VV, Majamaa K (2000) Familial aggregation of Parkinson’s disease in a Finnish population. J Neurol Neurosurg Psychiatry 69:107–109
Borroni B, Del Bo R, Goldwurm S, Archetti S, Bonvicini C, Agosti C, Bigni B, Papetti A, Ghezzi S, Sacilotto G, Pezzoli G, Gennarelli M, Bresolin N, Comi GP, Padovani A (2010) VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome. J Alzheimers Dis
Conrad C, Andreadis A, Trojanowski JQ, Dickson DW, Kang D, Chen X, Wiederholt W, Hansen L, Masliah E, Thal LJ, Katzman R, Xia Y, Saitoh T (1997) Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 41:277–281
de Yebenes JG, Sarasa JL, Daniel SE, Lees AJ (1995) Familial progressive supranuclear palsy. Description of a pedigree and review of the literature. Brain 118:1095–1103
Elbaz A, McDonnell SK, Maraganore DM, Strain KJ, Schaid DJ, Bower JH, Ahlskog JE, Rocca WA (2003) Validity of family history data on PD: evidence for a family information bias. Neurology 61:11–17
Gilman S, Low PA, Quinn N, Albanese A, Ben Shlomo Y, Fowler CJ, Kaufmann H, Klockgether T, Lang AE, Lantos PL, Litvan I, Mathias CJ, Oliver E, Robertson D, Schatz I, Wenning GK (1998) Consensus statement on the diagnosis of multiple system atrophy. J Auton Nerv Syst 74:189–192
Golbe LI (1993) Progressive supranuclear palsy. In: Tolosa E (ed) Parkinson’s disease and movement disorders, 2nd edn. Williams & Wilkins, Baltimore, pp 145–161
Hara K, Momose Y, Tokiguchi S, Shimohata M, Terajima K, Onodera O, Kakita A, Yamada M, Takahashi H, Hirasawa M, Mizuno Y, Ogata K, Goto J, Kanazawa I, Nishizawa M, Tsuji S (2007) Multiplex families with multiple system atrophy. Arch Neurol 64:545–551
Kaat LD, Boon AJ, Azmani A, Kamphorst W, Breteler MM, Anar B, Heutink P, van Swieten JC (2009) Familial aggregation of parkinsonism in progressive supranuclear palsy. Neurology 73:98–105
Nath U, Ben-Shlomo Y, Thomson RG, Morris HR, Wood NW, Lees AJ, Burn DJ (2001) The prevalence of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) in the UK. Brain 124:1438–1449
Nee LE, Gomez MR, Dambrosia J, Bale S, Eldridge R, Polinsky RJ (1991) Environmental-occupational risk factors and familial associations in multiple system atrophy: a preliminary investigation. Clin Auton Res 1:9–13
Oliva R, Tolosa E, Ezquerra M, Molinuevo JL, Valldeoriola F, Burguera J, Calopa M, Villa M, Ballesta F (1998) Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. Arch Neurol 55:1122–1124
Osaki Y, Wenning GK, Daniel SE, Hughes A, Lees AJ, Mathias CJ, Quinn N (2002) Do published criteria improve clinical diagnostic accuracy in multiple system atrophy? Neurology 59:1486–1491
R Foundation for Statistical Computing (2010) R Development Core Team (2009). R: a language and environment for statistical computing. Vienna, Austria
Ros R, Thobois S, Streichenberger N, Kopp N, Sanchez MP, Perez M, Hoenicka J, Avila J, Honnorat J, de Yebenes JG (2005) A new mutation of the tau gene, G303 V, in early-onset familial progressive supranuclear palsy. Arch Neurol 62:1444–1450
Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wullner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Gasser T (2009) SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol 65:610–614
Schrag A, Ben-Shlomo Y, Quinn NP (1999) Prevalence of progressive supranuclear palsy and multiple system atrophy: a cross-sectional study. Lancet 354:1771–1775
Soma H, Yabe I, Takei A, Fujiki N, Yanagihara T, Sasaki H (2006) Heredity in multiple system atrophy. J Neurol Sci 240:107–110
Taylor CA, Saint-Hilaire MH, Cupples LA, Thomas CA, Burchard AE, Feldman RG, Myers RH (1999) Environmental, medical, and family history risk factors for Parkinson’s disease: a New England-based case control study. Am J Med Genet 88:742–749
Thacker EL, Ascherio A (2008) Familial aggregation of Parkinson’s disease: a meta-analysis. Mov Disord 23:1174–1183
Vidal JS, Vidailhet M, Derkinderen P, de Gaillarbois TD, Tzourio C, Alperovitch A (2009) Risk factors for progressive supranuclear palsy: a case-control study in France. J Neurol Neurosurg Psychiatry 80:1271–1274
Vidal JS, Vidailhet M, Elbaz A, Derkinderen P, Tzourio C, Alperovitch A (2008) Risk factors of multiple system atrophy: a case-control study in French patients. Mov Disord 23:797–803
Wenning GK, Ben Shlomo Y, Magalhaes M, Daniel SE, Quinn NP (1995) Clinicopathological study of 35 cases of multiple system atrophy. J Neurol Neurosurg Psychiatry 58:160–166
Wenning GK, Wagner S, Daniel S, Quinn NP (1993) Multiple system atrophy: sporadic or familial? Lancet 342:681
Wullner U, Abele M, Schmitz-Huebsch T, Wilhelm K, Benecke R, Deuschl G, Klockgether T (2004) Probable multiple system atrophy in a German family. J Neurol Neurosurg Psychiatry 75:924–925
Acknowledgments
The authors thank the CIC Salpêtrière and Dr. Sophie Sangla, Prof. Jean-Philippe Azoulay, Dr. Marc Ziegler and Dr. Jean-Philippe Brandel for their help in recruiting cases, and Dr. Marie-Laure Welter, Dr. Valerie Mesnage, Dr. Pierre Frouard and Dr. Safia Zenagui for their collaboration for case and control interviews.
Conflict of interest statement
The authors declare that they have no conflict of interest.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Vidal, JS., Vidailhet, M., Derkinderen, P. et al. Familial aggregation in atypical Parkinson’s disease: a case control study in multiple system atrophy and progressive supranuclear palsy. J Neurol 257, 1388–1393 (2010). https://doi.org/10.1007/s00415-010-5638-9
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00415-010-5638-9