OBJECTIVE: To study the frequency, clinical features and clinical genetics of familial Parkinson's disease (PD). METHODS: Family history for PD and tremors was studied in 100 consecutive PD cases. Spouses served as controls. Clinical features were compared between personally verified familial and sporadic PD cases, from the same consecutive clinical series. Clinical genetic analysis was performed in a larger group of non-consecutive multicase PD families. RESULTS: Family history for PD was positive in 24% of consecutive PD cases and in 6% of spouse controls (p < 0.001). When family history for isolated tremor is also considered, the number of positive cases rises to 43% compared with 9% in controls (p < 0.001). Nine of the consecutive cases had at least one living affected relative, for a total of 20 familial PD cases. These familial cases showed an earlier onset age when compared with sporadic ones from the same consecutive series. Within 22 non-consecutive PD families with at least two living and personally examined PD cases (total 52 PD cases), the crude segregation ratios were similar for parents and siblings and the lifetime cumulative risks approached 0.4 in siblings and tended to be comparable, but at later ages, in parents. Ancestral relatives were all unilaterally distributed. In some families, anticipation of onset age in new generations was observed. CONCLUSIONS: The frequency of positive family history for PD and for PD and tremor is higher among PD cases than controls. Familial and sporadic PD only differ in onset age. The clinical genetic analyses support autosomal dominant inheritance with strongly age-related penetrance as most likely in familial PD.
OBJECTIVE: To study the frequency, clinical features and clinical genetics of familial Parkinson's disease (PD). METHODS: Family history for PD and tremors was studied in 100 consecutive PD cases. Spouses served as controls. Clinical features were compared between personally verified familial and sporadic PD cases, from the same consecutive clinical series. Clinical genetic analysis was performed in a larger group of non-consecutive multicase PD families. RESULTS: Family history for PD was positive in 24% of consecutive PD cases and in 6% of spouse controls (p < 0.001). When family history for isolated tremor is also considered, the number of positive cases rises to 43% compared with 9% in controls (p < 0.001). Nine of the consecutive cases had at least one living affected relative, for a total of 20 familial PD cases. These familial cases showed an earlier onset age when compared with sporadic ones from the same consecutive series. Within 22 non-consecutive PD families with at least two living and personally examined PD cases (total 52 PD cases), the crude segregation ratios were similar for parents and siblings and the lifetime cumulative risks approached 0.4 in siblings and tended to be comparable, but at later ages, in parents. Ancestral relatives were all unilaterally distributed. In some families, anticipation of onset age in new generations was observed. CONCLUSIONS: The frequency of positive family history for PD and for PD and tremor is higher among PD cases than controls. Familial and sporadic PD only differ in onset age. The clinical genetic analyses support autosomal dominant inheritance with strongly age-related penetrance as most likely in familial PD.
Authors: R Saunders-Pullman; K Stanley; M San Luciano; M J Barrett; V Shanker; D Raymond; L J Ozelius; S B Bressman Journal: Neurosci Lett Date: 2011-04-12 Impact factor: 3.046
Authors: Alexander Zimprich; Anna Benet-Pagès; Walter Struhal; Elisabeth Graf; Sebastian H Eck; Marc N Offman; Dietrich Haubenberger; Sabine Spielberger; Eva C Schulte; Peter Lichtner; Shaila C Rossle; Norman Klopp; Elisabeth Wolf; Klaus Seppi; Walter Pirker; Stefan Presslauer; Brit Mollenhauer; Regina Katzenschlager; Thomas Foki; Christoph Hotzy; Eva Reinthaler; Ashot Harutyunyan; Robert Kralovics; Annette Peters; Fritz Zimprich; Thomas Brücke; Werner Poewe; Eduard Auff; Claudia Trenkwalder; Burkhard Rost; Gerhard Ransmayr; Juliane Winkelmann; Thomas Meitinger; Tim M Strom Journal: Am J Hum Genet Date: 2011-07-15 Impact factor: 11.025
Authors: Cyrus P Zabetian; Carolyn M Hutter; Dora Yearout; Alexis N Lopez; Stewart A Factor; Alida Griffith; Berta C Leis; Thomas D Bird; John G Nutt; Donald S Higgins; John W Roberts; Denise M Kay; Karen L Edwards; Ali Samii; Haydeh Payami Journal: Am J Hum Genet Date: 2006-08-17 Impact factor: 11.025
Authors: José A G Agúndez; Antonio Luengo; Oscar Herráez; Carmen Martínez; Hortensia Alonso-Navarro; Félix Javier Jiménez-Jiménez; Elena García-Martín Journal: Neuromolecular Med Date: 2007-11-06 Impact factor: 3.843