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DCTN1 mutation associated parkinsonism: case series of three new families with perry syndrome.

Authors :
Stoker, Thomas B.
Dostal, Vaclav
Cochius, Jeffrey
Williams-Gray, Caroline H.
Scherzer, Clemens R.
Wang, Junhao
Liu, Ganqiang
Coyle-Gilchrist, Ian
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