التفاصيل البيبلوغرافية
| العنوان: |
Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years. |
| المؤلفون: |
Khan, Naheed L., Horta, Wagner, Eunson, Louise, Graham, Elizabeth, Johnson, Janel O., Chang, Shannon, Davis, Mary, Singleton, Andrew, Wood, Nicholas W., Lees, Andrew J. |
| المصدر: |
Movement Disorders; Apr2005, Vol. 20 Issue 4, p479-484, 5p |
| مصطلحات موضوعية: |
RESEARCH, SEQUENCE analysis, GENETIC mutation, ANTIPARKINSONIAN agents, RESEARCH methodology, DOPA, MEDICAL cooperation, EVALUATION research, GENETIC carriers, COMPARATIVE studies, ENZYMES, GENOTYPES, FOOT, GENES, RESEARCH funding, PARKINSONIAN disorders, TARDIVE dyskinesia, GENETIC techniques, GENEALOGY, LONGITUDINAL method |
| مصطلحات جغرافية: |
BRAZIL |
| مستخلص: |
We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
