A Prospective Study of 50 Cases of Familial Parkinson’s Disease

Roy, Madeleine; Boyer, Liette; Barbeau, A.

doi:10.1017/s0317167100044541

Cited by 59 publications

(27 citation statements)

References 7 publications

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“…In addition to the clinical heterogeneity of ET, recent studies have emphasized the variable clinical expression of PD 12,16,17,42,51). Generally there is a better prognosis for PD-affected patients with tremor as the predominant clinical feature than for patients with gait difficulty and postural instability as the initial or main symptom 1511.…”

Section: Discussionmentioning

confidence: 99%

Association between essential tremor and Parkinson's disease

Geraghty

Jankovic

Zetusky

1985

Annals of Neurology

155

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To examine a possible relationship of essential tremor to Parkinson's disease (PD), 130 patients with essential tremor were studied. Twenty-five patients had both essential tremor and PD. These 25 patients were matched for age and duration of PD symptoms with 25 patients who had idiopathic PD. Bradykinesia, postural instability, and gait difficulty were more severe in the patients with idiopathic PD. Degree of tremor, rigidity, and functional disability did not differ in the two groups. The prevalence of PD in the population with essential tremor was 24 times greater than expected. This study suggests that some patients with essential tremor have a genetically increased risk for PD.

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Section: Discussionmentioning

confidence: 99%

Association between essential tremor and Parkinson's disease

Geraghty

Jankovic

Zetusky

1985

Annals of Neurology

155

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“…Much of the work on clinical subtypes of PD comes from two seminal studies of patients with onset 40 years or younger, one a pilot study of 32 patients, 50 and the other a larger study of 135 patients with onset 40 years or younger. 51 More recent studies of PD with onset older than 40 years 25,52 have supported the concept of subtypes.…”

mentioning

confidence: 99%

Familial aggregation of early‐ and late‐onset Parkinson's disease

Marder

Levy²,

Louis

et al. 2003

Annals of Neurology

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The role of heredity in early- versus late-onset Parkinson's disease (PD) is controversial. We estimated the degree of increased risk of PD in first-degree relatives of 221 PD probands with age of onset 50 years or younger and 266 PD probands with age of onset older than 50 years compared with the first-degree relatives of 409 control probands. Risk of PD was similar among first-degree relatives of early-onset PD probands (risk ratio [RR], 2.9; 95% confidence interval [CI], 1.6-5.0; p = 0.0002) and late-onset PD probands (RR, 2.7; 95% CI, 1.6-4.4; p = 0.0002) when each was compared with first-degree relatives of controls. However, siblings of early-onset PD probands were at markedly increased risk of PD compared with siblings of controls (RR, 7.9; 95% CI, 2.5-25.5; p = 0.0005), whereas parents of early-onset PD probands were not at significantly increased risk compared with parents of controls (RR, 1.7; 95% CI, 0.9-3.3; p = 0.2). In late-onset families, both siblings (RR, 3.6; 95% CI, 1.3-10.3; p = 0.02) and parents (RR, 2.5; 95% CI, 1.4-4.6; p = 0.003) were at increased risk compared with control relatives. This pattern is consistent with an autosomal recessive contribution to the inheritance of early but not late-onset PD. Genetic factors are important in both early- and late-onset PD, but specific genes and mode of inheritance may differ between the two groups.

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“…The latter association had not been confirmed in another study on YOPD (Quinn et al, 1987). Nor were any of these associations observed in selected families of Parkinsonian (not: PD) cases with onset later than 40 years (Roy et al, 1983), nor in case-control studies on incident (Rajput et al, 1987) or sporadic typical PD cases . Another study could only marginally replicate the genetic classification of Parkinsonism proposed by Barbeau's group (Alonso et al, 1986).…”

Section: The Diagnostic and Nosologic Significance Of Tremor In Familmentioning

confidence: 88%

Genetic factors in the etiology of idiopathic Parkinson's disease

Vieregge

1994

J Neural Transm Gen Sect

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Overshadowed by a vigorous search for an environmentally-derived toxin that would be possibly relevant for the pathogenesis of idiopathic Parkinson's disease (PD), genetic factors have largely been neglected for this condition during the last two decades. Recent descriptions of kindreds over three or more generations with several family members affected have renewed the interest in genetics of PD. Concurring with this, diagnostic concepts and pathologic criteria for PD and for idiopathic Lewy-body (LB) disease have been reevaluated such that LB-proven parkinsonism is sufficiently differentiated from familial parkinsonism without LB pathology. Surveys on genetic epidemiology in PD have confirmed the 19th century's notion that 10 to 15% of PD index cases report a further family member with PD. These figures were, however, substantiated on a statistical basis only in single surveys when comparisons were made with the numbers of PD relatives in control index cases. Twin studies did not reveal a higher rate of concordance within monozygotic pairs than in dizygotic pairs. Tests of striatal 18-F-Dopa uptake in clinically unaffected mono- and dizygotic co-twins did not alter the ratio between the concordance rates. Though not excluded by the twin studies, multifactorial (or polygenic) inheritance as well as mitochondrial inheritance are at present less likely to cover most of the inheritance pattern in familial LB parkinsonism. Instead, autosomal dominant inheritance with reduced penetrance is the most probable inheritance pattern for most of the reported pedigrees. Molecular genetic investigations have to consider the biochemical basis of the age- and region-specific pathology of PD. The first analyses of linkage and allelic associations gave inconclusive results in sporadic and familial PD. The hunt for metabolic factors that link geno- and phenotype expression in PD will continue.

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A Prospective Study of 50 Cases of Familial Parkinson’s Disease

Cited by 59 publications

References 7 publications

Association between essential tremor and Parkinson's disease

Association between essential tremor and Parkinson's disease

Familial aggregation of early‐ and late‐onset Parkinson's disease

Genetic factors in the etiology of idiopathic Parkinson's disease

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