Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia
D Pellerin, MC Danzi, M Renaud… - Clinical and …, 2024 - Wiley Online Library
Hereditary ataxias, especially when presenting sporadically in adulthood, present a
particular diagnostic challenge owing to their great clinical and genetic heterogeneity …
particular diagnostic challenge owing to their great clinical and genetic heterogeneity …
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
D Pellerin, F Heindl, C Wilke, MC Danzi, A Traschütz… - …, 2024 - thelancet.com
Background GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described
neurodegenerative disease caused by (GAA)≥ 250 expansions in the fibroblast growth …
neurodegenerative disease caused by (GAA)≥ 250 expansions in the fibroblast growth …
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
P Iruzubieta, D Pellerin, A Bergareche… - European Journal of …, 2023 - Wiley Online Library
Background and purpose Dominantly inherited GAA repeat expansions in the fibroblast
growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia …
growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia …
[HTML][HTML] GAA-FGF14-Related Ataxia
GAA-FGF14-related ataxia is a mid to late adult-onset slowly progressive cerebellar
syndrome with predominant gait involvement. Median age at onset is 60 years (range: 21-87 …
syndrome with predominant gait involvement. Median age at onset is 60 years (range: 21-87 …
Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment …
D Pellerin, F Heindl, C Wilke, MC Danzi, A Traschütz… - MedRxiv, 2023 - medrxiv.org
The cause of downbeat nystagmus (DBN) remains unknown in approximately 30% of
patients (idiopathic DBN). Here, we hypothesized that:(i) FGF14 (GAA)≥ 250 repeat …
patients (idiopathic DBN). Here, we hypothesized that:(i) FGF14 (GAA)≥ 250 repeat …
Digital gait measures capture 1‐year progression in early‐stage spinocerebellar ataxia type 2
Background With disease‐modifying drugs in reach for cerebellar ataxias, fine‐grained
digital health measures are highly warranted to complement clinical and patient‐reported …
digital health measures are highly warranted to complement clinical and patient‐reported …
Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B)
Objectives Paroxysmal ataxia is typically characterized by early-onset attacks of cerebellar
ataxia. Late-onset cerebellar ataxia (LOCA) comprises a group of neurodegenerative …
ataxia. Late-onset cerebellar ataxia (LOCA) comprises a group of neurodegenerative …
Reduced Age‐Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74‐Year‐Old Woman from a German Family with SCA27B
D Pellerin, J Seemann, A Traschütz, B Brais… - Movement …, 2024 - Wiley Online Library
Spinocerebellar ataxia 27B (SCA27B) is a recently described autosomal dominant
cerebellar ataxia caused by an intronic GAA repeat expansion in the FGF14 gene. 1 Since …
cerebellar ataxia caused by an intronic GAA repeat expansion in the FGF14 gene. 1 Since …
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
S Satolli, S Rossi, E Vegezzi, D Pellerin, ML Manca… - Journal of …, 2024 - Springer
Background Autosomal-dominant spinocerebellar ataxia (ADCA) due to intronic GAA repeat
expansion in FGF14 (SCA27B) is a recent, relatively common form of late-onset ataxia …
expansion in FGF14 (SCA27B) is a recent, relatively common form of late-onset ataxia …
Capturing longitudinal change in cerebellar ataxia: Context-sensitive analysis of real-life walking increases patient relevance and effect size
OBJECTIVES: With disease-modifying drugs for degenerative ataxias on the horizon,
ecologically valid measures of motor performance that can detect patient-relevant changes …
ecologically valid measures of motor performance that can detect patient-relevant changes …