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The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy
- Publication Year :
- 2019
-
Abstract
- BACKGROUND: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. The objective of this study was to reconstruct the pedigree of Italian dentatorubral-pallidoluysian atrophy familial cases describing their clinical features. METHODS: We investigated 6 apparently unrelated dentatorubral-pallidoluysian atrophy families comprising a total of 51 affected individuals: 13 patients were clinically examined, and for 38 patients clinical data were collected from clinical sources. The dentatorubral-pallidoluysian atrophy diagnosis was genetically confirmed in 18 patients. Genealogical data from historical archives were analyzed. RESULTS: All 6 families were unified in a large pedigree deriving from a founder couple originating from Monte San Giuliano (Italy) in the late 1500s, with 51 affected subjects over the last 4 generations. Wide phenotypical variability in age at onset and clinical features was confirmed. Epilepsy was more frequent in juvenile cases than in late adults, with cognitive/psychiatric and motor disorders observed regardless of age at onset. CONCLUSIONS: We have described the largest Caucasian dentatorubral-pallidoluysian atrophy pedigree from a single founder couple. The introduction of the dentatorubral-pallidoluysian atrophy gene in Italy could have arisen as a result of trade relationships between the Spanish or Portuguese and the Japanese in the 1500s. © 2019 International Parkinson and Movement Disorder Society.
- Subjects :
- 0301 basic medicine
Adult
Male
Pediatrics
medicine.medical_specialty
Adolescent
Disease
Neuropsychological Tests
White People
03 medical and health sciences
Epilepsy
Young Adult
0302 clinical medicine
Atrophy
Trinucleotide Repeats
dentatorubral-pallidoluysian atrophy
medicine
Humans
Family
ATN1 gene
Child
Founder mutation
Aged
Dentatorubral-pallidoluysian atrophy
business.industry
genealogical method
Middle Aged
medicine.disease
Myoclonic Epilepsies, Progressive
Pedigree
030104 developmental biology
founder effect
Neurology
Cerebellar cognitive affective syndrome
Italy
cerebellar cognitive-affective syndrome
Mutation
Female
Neurology (clinical)
business
030217 neurology & neurosurgery
Founder effect
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....0088bc2f16058e219eecd9733cbf2019