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DCTN1 mutation associated parkinsonism: case series of three new families with perry syndrome.
- Source :
- Journal of Neurology; Dec2022, Vol. 269 Issue 12, p6667-6672, 6p
- Publication Year :
- 2022
-
Abstract
- Although Perry syndrome is rare, characteristic clinical features are usually present, and it should be considered when parkinsonism is accompanied by significant weight loss, ventilatory dysfunction, or an autosomal dominant family history of parkinsonism. These phenotypes do not seem to co-exist with Perry syndrome, though individuals with Perry syndrome, dHMN7B, and an overlapping phenotype have been reported in a family from China [[6]]. Dear Sirs, Mutations in the I DCTN1 i gene cause the Perry syndrome: an autosomal dominant form of heredodegenerative parkinsonism, accompanied by neuropsychiatric symptoms, profound weight loss, and later, ventilatory dysfunction [[1]]. [Extracted from the article]
Details
- Language :
- English
- ISSN :
- 03405354
- Volume :
- 269
- Issue :
- 12
- Database :
- Complementary Index
- Journal :
- Journal of Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 159957294
- Full Text :
- https://doi.org/10.1007/s00415-022-11308-3