scholarly journals Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder

2021 ◽  
Vol 8 (4) ◽  
pp. 774-789
Author(s):  
Tanja Schmitz‐Hübsch ◽  
Silke Lux ◽  
Peter Bauer ◽  
Alexander U. Brandt ◽  
Elena Schlapakow ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Adult Onset ◽  
Spinocerebellar Ataxia Type 14

scholarly journals Genetic Rhabdomyolysis within the Spectrum of the Spinocerebellar Ataxia Type 2 Responsive to Pregabalin

2021 ◽  
Author(s):  
Fabian Rossi ◽  
Joe Ma ◽  
Nina Tsakadze ◽  
Lourdes Benes-Lima ◽  
Julio Araque Gonzalez ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Clinical Presentation ◽  
Spinocerebellar Ataxia Type ◽  
Adult Onset ◽  
Spinocerebellar Ataxia Type 2 ◽  
First Report ◽  
Recurrent Rhabdomyolysis

Abstract BackgroundSpinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. Case presentationWe describe a man with Spinocerebellar Ataxia type 2 with chronic, severe, and recurrent rhabdomyolysis, as part of the cerebellar ataxia genetic spectrum. Initially rhabdomyolysis was refractory to multiple medications, but entirely resolved and remained in chronic remission with pregabalin. ConclusionThis is the first report of Spinocerebellar Ataxia type 2 associated with chronic, severe, recurrent rhabdomyolysis as part of its genetic phenotype responsive to pregabalin.

scholarly journals Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

2018 ◽  
Vol 33 (7) ◽  
pp. 1119-1129 ◽  
Author(s):  
Viorica Chelban ◽  
Sarah Wiethoff ◽  
Bjørn K. Fabian-Jessing ◽  
Nourelhoda A. Haridy ◽  
Alaa Khan ◽  
...  
Keyword(s):  
Disease Progression ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 14

scholarly journals Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

2019 ◽  
Vol 19 (1) ◽  
pp. 161-163 ◽  
Author(s):  
Gillian Rea ◽  
Sandya Tirupathi ◽  
Jonathan Williams ◽  
Penny Clouston ◽  
Patrick J. Morrison
Keyword(s):  
Cerebral Palsy ◽  
Genetic Testing ◽  
Developmental Delay ◽  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Spinocerebellar Ataxia Type ◽  
Adult Onset

Abstract Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and developmental delay at 6 months of age. Genetic testing confirmed a c.812C>T p.(Thr271Ile) mutation within the SPTBN2 gene. Seven previous cases of infantile onset SCA-5 are reported in the literature, four of which had a CP presentation. Early onset of SCA-5 presents with ataxic CP and is a rare cause of cerebral palsy.

scholarly journals Spinocerebellar Ataxia Type 14 Caused by a Mutation in Protein Kinase C γ

2003 ◽  
Vol 60 (12) ◽  
pp. 1749 ◽  
Author(s):  
Ichiro Yabe ◽  
Hidenao Sasaki ◽  
Dong-Hui Chen ◽  
Wendy H. Raskind ◽  
Thomas D. Bird ◽  
...  
Keyword(s):  
Protein Kinase C ◽  
Protein Kinase ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Kinase C ◽  
Spinocerebellar Ataxia Type 14
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