scholarly journals Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease

Cell Reports ◽  
2019 ◽  
Vol 26 (5) ◽  
pp. 1189-1202.e6 ◽  
Author(s):  
Jacqueline M. Ward ◽  
Colleen A. Stoyas ◽  
Pawel M. Switonski ◽  
Farid Ichou ◽  
Weiwei Fan ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Mitochondrial Disease ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 7 ◽  
Organelle Morphology

scholarly journals In vivo assessment of neurodegeneration in Spinocerebellar Ataxia type 7

2021 ◽  
Vol 29 ◽  
pp. 102561
Author(s):  
Jacob A. Parker ◽  
Shabbir H. Merchant ◽  
Sanaz Attaripour-Isfahani ◽  
Hyun Joo Cho ◽  
Patrick McGurrin ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 7 ◽  
In Vivo Assessment

Cervical Spinal Cord Degeneration in Spinocerebellar Ataxia Type 7

2021 ◽  
Author(s):  
C.R. Hernandez-Castillo ◽  
R. Diaz ◽  
T.J.R. Rezende ◽  
I. Adanyeguh ◽  
I.H. Harding ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Spinocerebellar Ataxia ◽  
Cervical Spinal Cord ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 7

scholarly journals Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7

2018 ◽  
Vol 10 (465) ◽  
pp. eaap8677 ◽  
Author(s):  
Chenchen Niu ◽  
Thazah P. Prakash ◽  
Aneeza Kim ◽  
John L. Quach ◽  
Laryssa A. Huryn ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Spinocerebellar Ataxia ◽  
Visual Function ◽  
Antisense Oligonucleotides ◽  
Neurodegenerative Disorder ◽  
Retinal Disease ◽  
Fundus Photography ◽  
Spinocerebellar Ataxia Type ◽  
Autofluorescence Imaging ◽  
Spinocerebellar Ataxia Type 7

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by cerebellar and retinal degeneration, and is caused by a CAG-polyglutamine repeat expansion in the ATAXIN-7 gene. Patients with SCA7 develop progressive cone-rod dystrophy, typically resulting in blindness. Antisense oligonucleotides (ASOs) are single-stranded chemically modified nucleic acids designed to mediate the destruction, prevent the translation, or modify the processing of targeted RNAs. Here, we evaluated ASOs as treatments for SCA7 retinal degeneration in representative mouse models of the disease after injection into the vitreous humor of the eye. Using Ataxin-7 aggregation, visual function, retinal histopathology, gene expression, and epigenetic dysregulation as outcome measures, we found that ASO-mediated Ataxin-7 knockdown yielded improvements in treated SCA7 mice. In SCA7 mice with retinal disease, intravitreal injection of Ataxin-7 ASOs also improved visual function despite initiating treatment after symptom onset. Using color fundus photography and autofluorescence imaging, we also determined the nature of retinal degeneration in human SCA7 patients. We observed variable disease severity and cataloged rapidly progressive retinal degeneration. Given the accessibility of neural retina, availability of objective, quantitative readouts for monitoring therapeutic response, and the rapid disease progression in SCA7, ASOs targeting ATAXIN-7 might represent a viable treatment for SCA7 retinal degeneration.

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 Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia

2000 ◽  
Vol 8 (12) ◽  
pp. 918-922 ◽  
Author(s):  
Jenni Jonasson ◽  
Vesa Juvonen ◽  
Pertti Sistonen ◽  
Jaakko Ignatius ◽  
Daniel Johansson ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Founder Mutation ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 7
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