𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Analysis of ERDA1, CTG18.1, and uncloned CAG/CTG repeat sequences in familial Parkinson's disease with anticipation

✍ Scribed by Schraen-Maschke, Susanna; Brique, Serge; Chartier-Harlin, Marie-Christine; Brique, Estelle; Dest�e, Alain; Sablonni�re, Bernard


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
28 KB
Volume
88
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19991215)88:6<738::aid-ajmg28>3.0.co;2-m

No coin nor oath required. For personal study only.

✦ Synopsis


In several neurodegenerative diseases, anticipation or increase in disease severity in succeeding generations within families correlates with expansions of an intragenic CAG/CTG repeat sequence above the normal range through the generations of a pedigree. Some kindreds of familial Parkinson's disease (PD) exhibit genetic anticipation. We used the repeat expansion detection (RED) method to detect repeat expansions directly in DNA samples from the index cases of 34 different PD families with anticipation. The mean age at onset of the younger probands was 48.8 ± 10.8 years and the mean intergenerational difference was 19.2 ± 10 years. The distribution of the RED products greater than 40 repeats was not significantly different between patients and controls with the Mann-Whitney U test (U = 510.5, p = 0.67). The samples were then screened for the two expanded-repeat loci, ERDA1 and CTG18.1. We found that in all cases the repeat expansion detected by the RED method may be accounted for by an expansion at these loci. Our results demonstrate that unstable CAG/CTG expansions corresponding to uncloned or cloned sequences (ERDA1, CTG18.1) are not involved in the etiology of rare familial case of PD with genetic anticipation. Am. J. Med. Genet. (Neuropsychiatr. Genet.


📜 SIMILAR VOLUMES


Anticipation in schizophrenia: No eviden
✍ Laurent, Claudine; Zander, Cecilia; Thibaut, Florence; Bonnet-Brilhault, Fr�d�ri 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 1 views

A decrease in age of onset of schizophrenia through consecutive family generations (anticipation) has been found in several studies. Anticipation is known to result from expansion of CAG repeats in genes that determine several neurodegenerative disorders. In a previous study we analysed 26 unilineal

Analysis of 14 CAG repeat-containing gen
✍ Joober, Ridha; Benkelfat, Chawki; Toulouse, Andr�; Lafreni�re, Ronald G.A.; Lal, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB

Recently, it has been suggested that trinucleotide repeat-containing genes may be involved in the etiology of schizophrenia. This study was aimed at investigating putative associations between allelic variants or expansions of CAG repeat-containing genes (CAGrCG) and schizophrenia or its variability

Segregation analysis of Parkinson diseas
✍ Zareparsi, Sepideh; Taylor, Todd D.; Harris, Emily L.; Payami, Haydeh 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 1 views

Parkinson disease (PD) is a prevalent movement disorder of unknown cause whose incidence rises with increasing age. Nearly 20% of PD is familial, a small subset of which exhibits autosomal dominant transmission. However, in most families, the inheritance is not clear. To determine the most likely mo

Analysis of SCA1, DRPLA, MJD, SCA2, and
✍ Silveira, I.; Coutinho, P.; Maciel, P.; Gaspar, C.; Hayes, S.; Dias, A.; Guimar� 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 1 views

The spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. To date, eight different loci causing SCA have been identified: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, SCA6, SCA7, and dentatorubropallidoluysian atrophy (DRPLA

Mitochondrial DNA sequence analysis of f
✍ Brown, Michael D.; Shoffner, John M.; Kim, Yoon L.; Jun, Albert S.; Graham, Bret 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB

The mitochondrial DNA (mtDNA) sequence was determined on 3 patients with Alzheimer's disease (AD) exhibiting AD plus Parkinson's disease (PD) neuropathologic changes and one patient with PD. Patient mtDNA sequences were compared to the standard Cambridge sequence to identify base changes. In the fir