Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1999-05

AUTHORS

Davide Pareyson, Cinzia Gellera, Barbara Castellotti, Antonella Antonelli, Maria Concetta Riggio, Franca Mazzucchelli, Floriano Girotti, Vladimiro Pietrini, Caterina Mariotti, S. Di Donato

ABSTRACT

We clinically and genetically evaluated 73 Italian families with autosomal dominant cerebellar ataxia (ADCA) type I. Spinocerebellar ataxia (SCA) type 1 was the most common genotype (SCA1), accounting for 41% of cases (30 families), SCA2 was slightly less frequent (29%, 21 families), and the remaining families were negative for the SCA1, SCA2, and SCA3 mutations. Among the positively genotyped families, SCA1 was found most frequently in families from northern Italy (50%), while SCA2 was the most common mutation in families from the southern part of the country (56%). Slow saccades and decreased deep tendon reflexes were observed significantly more frequently in SCA2 patients, while increased deep tendon reflexes and nystagmus were more common in SCA1. In SCA1 and SCA2 families there was a significant inverse correlation between expansion size and age at onset. Analysis of triplet repeat numbers in parent-offspring pairs showed greater meiotic instability, which was associated with an earlier onset of the disease in SCA2 families than in SCA1 families. More... »

PAGES

389-393

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004150050369

DOI

http://dx.doi.org/10.1007/s004150050369

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011679635

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10399872


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s004150050369'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s004150050369'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s004150050369'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s004150050369'


 

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