scholarly journals Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

2021 ◽  
Vol 8 (4) ◽  
pp. 956-963
Author(s):  
Romina Romaniello ◽  
Andrea Citterio ◽  
Elena Panzeri ◽  
Filippo Arrigoni ◽  
Marta De Rinaldis ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Spinocerebellar Ataxia Type ◽  
Intragenic Deletion

scholarly journals Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias

2015 ◽  
Vol 73 (1) ◽  
pp. 18-21 ◽  
Author(s):  
Marcus Vinicius Cristino de Albuquerque ◽  
José Luiz Pedroso ◽  
Pedro Braga Neto ◽  
Orlando Graziani Povoas Barsottini
Keyword(s):  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Clinical Presentation ◽  
Age Of Onset ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxias ◽  
Phenotype Variability ◽  
Spinocerebellar Ataxia Type 7 ◽  
Early Onset Ataxia

The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7.

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 Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13

2012 ◽  
Vol 590 (7) ◽  
pp. 1599-1614 ◽  
Author(s):  
Natali A. Minassian ◽  
Meng-Chin A. Lin ◽  
Diane M. Papazian
Keyword(s):  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Channel Gating ◽  
Spinocerebellar Ataxia Type

scholarly journals Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity

PLoS ONE ◽  
2009 ◽  
Vol 4 (12) ◽  
pp. e8280 ◽  
Author(s):  
Karla P. Figueroa ◽  
Sadaf Farooqi ◽  
Kristopher Harrup ◽  
Johnathan Frank ◽  
Stephen O'Rahilly ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Genetic Variance ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2

Origin of the Spinocerebellar Ataxia Type 7 Gene Mutation in Mexican Population

2013 ◽  
Vol 12 (6) ◽  
pp. 902-905 ◽  
Author(s):  
J. J. Magaña ◽  
R. Gómez ◽  
M. Maldonado-Rodríguez ◽  
L. Velázquez-Pérez ◽  
Y. S. Tapia-Guerrero ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Spinocerebellar Ataxia ◽  
Mexican Population ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 7

Lethal form of spinocerebellar ataxia type 7 with early onset in childhood

2018 ◽  
Vol 25 (1) ◽  
pp. 42-44 ◽  
Author(s):  
G. Gousse ◽  
H. Patural ◽  
R. Touraine ◽  
S. Chabrier ◽  
E. Rolland ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 7
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