A clinical and genetic study of familial cases of Parkinson's disease

Journal of the Neurological Sciences
V Planté-BordeneuveG Said

Abstract

We assessed a group of patients with a family history of Parkinson's disease (PD) in order to see if they differed clinically from sporadic cases and to study their genetic characteristics. Index cases were selected on the basis of clinically typical PD, and at least one affected relative. Fourteen families including 110 first degree and 40 second degree relatives were ascertained. A total of 31 individuals (17 females and 14 males) were found to be affected. This group was compared for selected clinical parameters to 31 age matched patients with sporadic PD. No statistical difference was found between the two groups. In familial cases, both the clinical parameters studied and the course of the disease varied within and between families, as observed in sporadic cases. The genetic transmission was compatible with an autosomal dominant model. The total segregation ratio of 0.25 suggested an incomplete penetrance, which increased with age, from 0 below the age of 30 to 0.43 over the age of 70. Age at onset was earlier in children than in their parents in the 8 multigeneration kindreds studied (mean difference 26 +/- 4.6 years, p = 0.01), whereas it was identical within a generation (mean difference 4.7 +/- 5.7 years, p = 0.1). Alt...Continue Reading

References

Mar 1, 1992·Journal of Neurology, Neurosurgery, and Psychiatry·A J HughesA J Lees
Aug 1, 1992·Neurology·P ViereggeH P Ludin
Jan 1, 1991·Movement Disorders : Official Journal of the Movement Disorder Society·D M MaraganoreC D Marsden
Mar 1, 1990·Annals of Neurology·L I GolbeR C Duvoisin
Jan 1, 1990·Movement Disorders : Official Journal of the Movement Disorder Society·W G JohnsonR Duvoisin
Jun 1, 1989·Italian Journal of Neurological Sciences·F Degl'InnocentiP Marini
Aug 1, 1988·Neurology·R J MarttilaU K Rinne
Jan 1, 1987·Journal of Neurology, Neurosurgery, and Psychiatry·C D Marsden
Jan 1, 1995·Neurology·H PayamiJ Nutt
Dec 1, 1993·Journal of Neurology, Neurosurgery, and Psychiatry·N P Quinn, C D Marsden
Apr 16, 1998·Movement Disorders : Official Journal of the Movement Disorder Society·O BandmannN W Wood

❮ Previous
Next ❯

Citations

Jun 24, 1998·Clinical Neurology and Neurosurgery·B A VeldmanM W Horstink
Jul 2, 2008·Parkinsonism & Related Disorders·P ViereggeD Kömpf
Mar 28, 2008·Human Molecular Genetics·Javier Simón-Sánchez, Andrew B Singleton
Apr 1, 1997·Journal of Neurology, Neurosurgery, and Psychiatry·N Wood
Sep 18, 2002·Journal of Neurology, Neurosurgery, and Psychiatry·T FoltynieR A Barker
Feb 11, 2005·Postgraduate Medical Journal·M AtadzhanovP Mwaba
Oct 16, 2007·Neuro-degenerative Diseases·Spiridon PapapetropoulosElisabeth Chroni
Jun 5, 1998·Movement Disorders : Official Journal of the Movement Disorder Society·R DjaldettiE Melamed
Jun 5, 1998·Movement Disorders : Official Journal of the Movement Disorder Society·C P PangR Kay
Jan 30, 2004·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S PapapetropoulosE Chroni
Jul 26, 1996·American Journal of Medical Genetics·G LucotteR Krishnamoorthy
Jan 7, 1999·Journal of Geriatric Psychiatry and Neurology·H Payami, S Zareparsi
May 25, 2011·Journal of Cellular Biochemistry·Enyuan ShangDebra J Wolgemuth
May 3, 2000·Medical Hypotheses·M Jimenez del Rio, C Velez-Pardo

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.