Advanced

Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?

Puschmann, Andreas LU ; Wszolek, Zbigniew K; Farrer, Matthew; Gustafson, Lars LU ; Widner, Håkan LU and Nilsson, Christer LU (2009) In Parkinsonism & Related Disorders 15(5). p.390-392
Abstract
Duplications and triplications of the alpha-synuclein (SNCA) gene have been reported in Parkinson's disease patients belonging to the Southern Swedish "Lister family". Further genealogical research has now shown that these individuals are descended from a large kindred characterized by Herman Lundborg in 1901-1913. In the expanded pedigree, a total of 25 individuals had Parkinson's disease with an autosomal dominant pattern of inheritance. Hereditary dementia, and, historically, dementia praecox have been described in other family members. Furthermore, an autosomal recessively inherited pediatric disease with nocturnal tonic-clonic fits, subsequent progressive myoclonus, startle reactions, tremor and muscle rigidity was described by... (More)
Duplications and triplications of the alpha-synuclein (SNCA) gene have been reported in Parkinson's disease patients belonging to the Southern Swedish "Lister family". Further genealogical research has now shown that these individuals are descended from a large kindred characterized by Herman Lundborg in 1901-1913. In the expanded pedigree, a total of 25 individuals had Parkinson's disease with an autosomal dominant pattern of inheritance. Hereditary dementia, and, historically, dementia praecox have been described in other family members. Furthermore, an autosomal recessively inherited pediatric disease with nocturnal tonic-clonic fits, subsequent progressive myoclonus, startle reactions, tremor and muscle rigidity was described by Lundborg in the same pedigree. The entity was later designated Unverricht-Lundborg disease (ULD) or progressive myoclonus epilepsy type 1 (EPM1). However, Lundborg's clinical description of this disease, based on 17 patients within this kindred, differs from the modern definition of EPM1, which relies on patients with a mutation in the cystatin B (CSTB) gene. We hypothesize that the former pediatric disease, as well as the parkinsonism and dementia phenotypes, are associated with duplications, triplications and possibly higher-order multiplications of the alpha-synuclein (SNCA) gene. This hypothesis is supported by the distribution of afflicted family members within the pedigree and by recently obtained genealogical information. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Parkinsonism & Related Disorders
volume
15
issue
5
pages
390 - 392
publisher
Elsevier
external identifiers
  • wos:000267196100012
  • pmid:18824390
  • scopus:67349253834
ISSN
1873-5126
DOI
10.1016/j.parkreldis.2008.08.002
language
English
LU publication?
yes
id
f74bc72f-4786-4f82-b887-94693342d2cf (old id 1262705)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18824390?dopt=Abstract
date added to LUP
2008-11-06 11:54:51
date last changed
2017-04-30 08:04:56
@article{f74bc72f-4786-4f82-b887-94693342d2cf,
  abstract     = {Duplications and triplications of the alpha-synuclein (SNCA) gene have been reported in Parkinson's disease patients belonging to the Southern Swedish "Lister family". Further genealogical research has now shown that these individuals are descended from a large kindred characterized by Herman Lundborg in 1901-1913. In the expanded pedigree, a total of 25 individuals had Parkinson's disease with an autosomal dominant pattern of inheritance. Hereditary dementia, and, historically, dementia praecox have been described in other family members. Furthermore, an autosomal recessively inherited pediatric disease with nocturnal tonic-clonic fits, subsequent progressive myoclonus, startle reactions, tremor and muscle rigidity was described by Lundborg in the same pedigree. The entity was later designated Unverricht-Lundborg disease (ULD) or progressive myoclonus epilepsy type 1 (EPM1). However, Lundborg's clinical description of this disease, based on 17 patients within this kindred, differs from the modern definition of EPM1, which relies on patients with a mutation in the cystatin B (CSTB) gene. We hypothesize that the former pediatric disease, as well as the parkinsonism and dementia phenotypes, are associated with duplications, triplications and possibly higher-order multiplications of the alpha-synuclein (SNCA) gene. This hypothesis is supported by the distribution of afflicted family members within the pedigree and by recently obtained genealogical information.},
  author       = {Puschmann, Andreas and Wszolek, Zbigniew K and Farrer, Matthew and Gustafson, Lars and Widner, Håkan and Nilsson, Christer},
  issn         = {1873-5126},
  language     = {eng},
  number       = {5},
  pages        = {390--392},
  publisher    = {Elsevier},
  series       = {Parkinsonism & Related Disorders},
  title        = {Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?},
  url          = {http://dx.doi.org/10.1016/j.parkreldis.2008.08.002},
  volume       = {15},
  year         = {2009},
}