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Article: Phenotypic commonalities in familial and sporadic Parkinson disease.

Baba, Yasuhiko / Markopoulou, Katerina / Putzke, John D / Whaley, Nathaniel R / Farrer, Matthew J / Wszolek, Zbigniew K / Uitti, Ryan J

Archives of neurology

2006  Volume 63, Issue 4, Page(s) 579–583

Abstract: ... both familial and sporadic PD exhibited several interesting commonalities, including a higher incidence in men ... Phenotypic similarity among familial and sporadic PD indicates that a similar topographic distribution ... phenotypes by examining demographic and clinical features of patients with familial PD and sporadic PD and ...

Abstract Background: Parkinson disease (PD) is a clinically well-documented neurodegenerative disorder. However, the mechanism or mechanisms of its phenotypic expressions are still unknown.
Objective: To compare phenotypes by examining demographic and clinical features of patients with familial PD and sporadic PD and with or without a family history of PD.
Design: Historical review of patients with sporadic PD in clinic-based samples and individual patients diagnosed with PD from families whose linkage to mutations or loci has been identified.
Setting: Movement disorder clinic in a referral center.
Patients: A total of 1277 patients with sporadic PD and 40 patients with familial PD.
Main outcome measures: Clinical features, including distribution by sex, initial motor symptom, location of initial motor symptom, and frequency of asymmetric motor symptoms.
Results: Despite different etiologic backgrounds, both familial and sporadic PD exhibited several interesting commonalities, including a higher incidence in men, tremor as the initial motor symptom (predominantly involving the upper extremities), and asymmetric parkinsonism during disease course.
Conclusions: The increased incidence of parkinsonism in men with familial PD suggests that the sex disparity is more likely the result of a protective effect against development of PD in women than of an increased risk in men that is associated with environmental factors. Phenotypic similarity among familial and sporadic PD indicates that a similar topographic distribution of the nigrostriatal lesion exists in patients with either form of PD regardless of apparent genetic influence.
MeSH term(s) Age Distribution ; Age of Onset ; Aged ; Aged, 80 and over ; DNA Mutational Analysis ; Female ; Functional Laterality/physiology ; Genetic Predisposition to Disease/genetics ; Genetic Testing ; Humans ; Male ; Middle Aged ; Parkinson Disease/epidemiology ; Parkinson Disease/genetics ; Parkinson Disease/physiopathology ; Parkinsonian Disorders/epidemiology ; Parkinsonian Disorders/genetics ; Parkinsonian Disorders/physiopathology ; Phenotype ; Prevalence ; Sex Distribution ; Tremor/epidemiology ; Tremor/physiopathology
Language English
Publishing date 2006-04
Publishing country United States
Document type Comparative Study ; Journal Article
ZDB-ID 80049-1
ISSN 1538-3687 ; 0003-9942
ISSN (online) 1538-3687
ISSN 0003-9942
DOI 10.1001/archneur.63.4.579
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