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First families with spinocerebellar ataxia type 7 in Poland
, 14, 45, 45, 6, 7, 23, 1
Affiliations- Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
- Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland
- Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland
- Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States
- Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, Florida, United States
- Faculty of Medicine, Lazarski University, Warsaw, Poland
- Department of Genetics, Pomeranian Medical University in Szczecin, Szczecin, Poland
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Abstract
Introduction. We present the first two Polish families diagnosed with spinocerebellar ataxia type 7 (SCA7) and draw attention to cardiac involvement as a new potential manifestation of this disease.
Material and methods. Two well-documented kindreds are presented.
Results. The proband from Family 1 presented aged 54 years with vision worsening followed by progressive imbalance. Brain MRI demonstrated cerebellar atrophy. Genetic testing confirmed CAG repeat expansion (42/10) in ATXN7 gene. The proband from Family 2 developed imbalance at age 20, followed by progressive deterioration of vision. Brain MRI revealed cerebellar atrophy. Additionally, she developed chronic congestive heart failure and, at age 38, had cardiomyopathy with an ejection fraction of 20% and significant mitral and tricuspid regurgitation. Genetic analysis found abnormal CAG expansion in the ATXN7 (46/10).
Conclusions and clinical implications. Vision loss due to pigmentary retinal degeneration is the distinguishing feature of SCA7 and often the initial manifestation. Although SCA7 is one of the most common SCAs in Sweden, it has never been reported in neighbouring Poland. Until now, cardiac abnormalities have only been described in infantile-onset SCA7 with large CAG repeats. The observed cardiac involvement in Family 2 may be coincidental, albeit a new possible manifestation of SCA7 cannot be excluded.
Abstract
Introduction. We present the first two Polish families diagnosed with spinocerebellar ataxia type 7 (SCA7) and draw attention to cardiac involvement as a new potential manifestation of this disease.
Material and methods. Two well-documented kindreds are presented.
Results. The proband from Family 1 presented aged 54 years with vision worsening followed by progressive imbalance. Brain MRI demonstrated cerebellar atrophy. Genetic testing confirmed CAG repeat expansion (42/10) in ATXN7 gene. The proband from Family 2 developed imbalance at age 20, followed by progressive deterioration of vision. Brain MRI revealed cerebellar atrophy. Additionally, she developed chronic congestive heart failure and, at age 38, had cardiomyopathy with an ejection fraction of 20% and significant mitral and tricuspid regurgitation. Genetic analysis found abnormal CAG expansion in the ATXN7 (46/10).
Conclusions and clinical implications. Vision loss due to pigmentary retinal degeneration is the distinguishing feature of SCA7 and often the initial manifestation. Although SCA7 is one of the most common SCAs in Sweden, it has never been reported in neighbouring Poland. Until now, cardiac abnormalities have only been described in infantile-onset SCA7 with large CAG repeats. The observed cardiac involvement in Family 2 may be coincidental, albeit a new possible manifestation of SCA7 cannot be excluded.
Keywords
SCA7, hereditary, retinal degeneration, neurodegenerative
About this articleTitle
First families with spinocerebellar ataxia type 7 in Poland
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Short Communication
Pages
310-313
Published online
2023-06-07
Page views
1389
Article views/downloads
387
DOI
Pubmed
Bibliographic record
Neurol Neurochir Pol 2023;57(3):310-313.
Keywords
SCA7
hereditary
retinal degeneration
neurodegenerative
Authors
Jarosław Dulski
Rana Hanna Al-Shaikh
Mercedes Prudencio
Leonard Petrucelli
Anna Sulek
Krzysztof Bernatowicz
Jarosław Sławek
Zbigniew K. Wszolek
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