[HTML][HTML] Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy
S Chen, C Ashton, R Sakalla, G Clement, S Planel… - Medrxiv, 2024 - ncbi.nlm.nih.gov
Background GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset ataxia caused by
a GAA repeat expansion in intron 1 of the FGF14 gene. Initial studies revealed cerebellar …
a GAA repeat expansion in intron 1 of the FGF14 gene. Initial studies revealed cerebellar …
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia
ZH Zheng, CY Cao, B Cheng, RY Yuan… - Journal of Human …, 2024 - nature.com
Background Intronic GAA repeat expansion ([GAA]≥ 250) in FGF14 is associated with the
late-onset neurodegenerative disorder, spinocerebellar ataxia 27B (SCA27B, GAA-FGF14 …
late-onset neurodegenerative disorder, spinocerebellar ataxia 27B (SCA27B, GAA-FGF14 …
GAA/FGF14 ataxia: an ode to the phenotype-first approach
E Indelicato, S Boesch - EBioMedicine, 2024 - thelancet.com
GAA-FGF14 disease/spinocerebellar ataxia 27B (SCA27B) has been recently pinpointed as
a frequent cause of late onset cerebellar ataxia (LOCA). 1, 2 The disease is caused by a …
a frequent cause of late onset cerebellar ataxia (LOCA). 1, 2 The disease is caused by a …