Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.
Mov Disord
; 26(4): 719-22, 2011 Mar.
Article
em En
| MEDLINE
| ID: mdl-21506149
ABSTRACT
BACKGROUND:
We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds.RESULTS:
All patients had a single base-pair of adenine deletion at nucleotide 202 of exon 2 (202A) of the parkin gene (all homozygous, one heterozygous). Parkinson's disease onset age was 17-68 years. Special features were intractable axial symptoms (low back pain, scoliosis, camptocormia, antecollis), postural tremor, and preserved cognition.CONCLUSIONS:
The 202A deletion of the parkin gene causes early-onset Parkinson's disease with marked levodopa/STN-DBS-resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Adenina
/
Deleção de Sequência
/
Ubiquitina-Proteína Ligases
Tipo de estudo:
Observational_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article