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 Massive CAG Repeat Expansion and Somatic Instability in Maternally Transmitted Infantile Spinocerebellar Ataxia Type 7

2015 ◽  
Vol 72 (2) ◽  
pp. 219 ◽  
Author(s):  
Heather Trang ◽  
Sabrina Y. Stanley ◽  
Paul Thorner ◽  
Hannaneh Faghfoury ◽  
Andreas Schulze ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Somatic Instability ◽  
Cag Repeat Expansion ◽  
Spinocerebellar Ataxia Type 7

scholarly journals An expanded CAG repeat sequence in spinocerebellar ataxia type 7.

1996 ◽  
Vol 6 (10) ◽  
pp. 965-971 ◽  
Author(s):  
K Lindblad ◽  
M L Savontaus ◽  
G Stevanin ◽  
M Holmberg ◽  
K Digre ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Sequence ◽  
Cag Repeat ◽  
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

Spinocerebellar ataxia type 7: frequency of CAG repeat length in a German family

1999 ◽  
Vol 246 (11) ◽  
pp. 1105-1106 ◽  
Author(s):  
F. R. Kreuz ◽  
Thomas Grünewald ◽  
Angela Müller ◽  
Heinz Reichmann ◽  
Christine Zühlke
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Length ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
German Family ◽  
Spinocerebellar Ataxia Type 7

scholarly journals Altered Plasma Acylcarnitines and Amino Acids Profile in Spinocerebellar Ataxia Type 7

Biomolecules ◽  
2020 ◽  
Vol 10 (3) ◽  
pp. 390 ◽  
Author(s):  
Rafael Nambo-Venegas ◽  
Claudia Valdez-Vargas ◽  
Bulmaro Cisneros ◽  
Berenice Palacios-González ◽  
Marcela Vela-Amieva ◽  
...  
Keyword(s):  
Amino Acids ◽  
Spinocerebellar Ataxia ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Coding Region ◽  
Beta Oxidation ◽  
Gene Coding ◽  
Spinocerebellar Ataxia Type 7 ◽  
Amino Acids Profile ◽  
Fatty Acid Beta Oxidation

Spinocerebellar ataxia type 7 (SCA7), a neurodegenerative disease characterized by cerebellar ataxia and retinal degeneration, is caused by an abnormal CAG repeat expansion in the ATXN7 gene coding region. The onset and severity of SCA7 are highly variable between patients, thus identification of sensitive biomarkers that accurately diagnose the disease and monitoring its progression are needed. With the aim of identified SCA7-specific metabolites with clinical relevance, we report for the first time, to the best of our knowledge, a metabolomics profiling of circulating acylcarnitines and amino acids in SCA7 patients. We identified 21 metabolites with altered levels in SCA7 patients and determined two different sets of metabolites with diagnostic power. The first signature of metabolites (Valine, Leucine, and Tyrosine) has the ability to discriminate between SCA7 patients and healthy controls, while the second one (Methionine, 3-hydroxytetradecanoyl-carnitine, and 3-hydroxyoctadecanoyl-carnitine) possess the capability to differentiate between early-onset and adult-onset patients, as shown by the multivariate model and ROC analyses. Furthermore, enrichment analyses of metabolic pathways suggest alterations in mitochondrial function, energy metabolism, and fatty acid beta-oxidation in SCA7 patients. In summary, circulating SCA7-specific metabolites identified in this study could serve as effective predictors of SCA7 progression in the clinics, as they are sampled in accessible biofluid and assessed by a relatively simple biochemical assay.

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 Homozygous spinocerebellar ataxia type 3 in China: a case report

2021 ◽  
Vol 49 (6) ◽  
pp. 030006052110213
Author(s):  
Yuchao Chen ◽  
Dan Li ◽  
Minger Wei ◽  
Menglu Zhou ◽  
Linan Zhang ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Clinical Phenotype ◽  
Gene Dosage ◽  
Cag Repeat ◽  
Cag Repeats ◽  
Spinocerebellar Ataxia Type ◽  
Contraction Pattern ◽  
Spinocerebellar Ataxia Type 3 ◽  
Type 3 ◽  
Stable Transmission

Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene ( ATXN3). However, patients with homozygous SCA3 carrying expanded CAG repeats in both alleles of ATXN3 are extremely rare. Herein, we present a case of a 50-year-old female who had homozygous SCA3 with expansion of 62/62 repeats. Segregation analysis of the patient’s family showed both a contraction pattern of CAG repeat length and stable transmission. The present case demonstrated an earlier onset and more severe clinical phenotype than that seen in heterozygous individuals, suggesting that the gene dosage enhances disease severity.

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