An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches
The hereditary cerebellar ataxias (HCAs) are rare, progressive neurologic disorders caused
by variants in many different genes. Inheritance may follow autosomal dominant, autosomal …
by variants in many different genes. Inheritance may follow autosomal dominant, autosomal …
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 …
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 …
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
S Miyatake, H Doi, H Yaguchi, E Koshimizu… - Journal of Neurology …, 2024 - jnnp.bmj.com
Background Although pure GAA expansion is considered pathogenic in SCA27B, non-GAA
repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the …
repeat motif is mostly mixed into longer repeat sequences. This study aimed to unravel the …