☆ 4.6 Letter

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

MOVEMENT DISORDERS (2023)

Related references

Note: Only part of the references are listed.
Article Medicine, General & Internal

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

D. Pellerin et al.

Summary: A repeat expansion in the FGF14 gene was found to be associated with late-onset cerebellar ataxias (LOCAs) in French Canadian and German populations as well as in Australian and Indian patients. This discovery provides important insights for further research and diagnosis of LOCAs.

NEW ENGLAND JOURNAL OF MEDICINE (2023)

Add to Collection
Article Clinical Neurology

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response

Carlo Wilke et al.

Summary: GAA-FGF14 ataxia is a common late-onset ataxia caused by intronic GAA repeat expansion in the FGF14 gene. This study characterized its phenotypic profile, natural history progression, and treatment response to 4-aminopyridine (4-AP). The results showed that GAA-FGF14 ataxia is typically late-onset with mild progression, and has a positive response to 4-AP treatment.

BRAIN (2023)

Add to Collection
Letter Clinical Neurology

Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family

Paula Saffie Awad et al.

MOVEMENT DISORDERS (2023)

Add to Collection
Article Multidisciplinary Sciences

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Celine Bonnet et al.

Summary: The FGF14 gene GAA repeat expansions are a common cause of spinocerebellar ataxia. We developed a strategy to detect and size these expansions using long-range PCR, repeat-primed PCR, and Sanger sequencing, and compared it to nanopore sequencing.

SCIENTIFIC REPORTS (2023)

Add to Collection
Article Genetics & Heredity

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

Haloom Rafehi et al.

Summary: This study identified an intronic (GAA) repeat expansion in FGF14 and demonstrated that (GAA)>335 is a disease-causing variant while (GAA)>250 is likely pathogenic. Affected individuals presented with adult-onset cerebellar ataxia with variable features.

AMERICAN JOURNAL OF HUMAN GENETICS (2023)

Add to Collection
Webinars Posters Questions Hubs Funding Journals Papers Connect Collections Reviewers About Us FAQs Mobile App Privacy Policy Terms of Use
© Peeref 2019-2024. All rights reserved.