Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9)
Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE. Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9). Kufor‐Rakeb syndrome (KRS) is a rare autosomal recessive inherited juvenile parkinsonian syndrome cau...
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crwiley:10.1111/j.1399-0004.2011.01745.x 2024-09-15T18:10:16+00:00 Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9) Eiberg, H Hansen, L Korbo, L Nielsen, IM Svenstrup, K Bech, S Pinborg, LH Friberg, L Hjermind, LE Olsen, OR Nielsen, JE 2011 http://dx.doi.org/10.1111/j.1399-0004.2011.01745.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2011.01745.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2011.01745.x en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Clinical Genetics volume 82, issue 3, page 256-263 ISSN 0009-9163 1399-0004 journal-article 2011 crwiley https://doi.org/10.1111/j.1399-0004.2011.01745.x 2024-07-11T04:34:45Z Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE. Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9). Kufor‐Rakeb syndrome (KRS) is a rare autosomal recessive inherited juvenile parkinsonian syndrome caused by mutations in ATP13A2 . We describe six patients from a consanguineous Greenlandic Inuit family, homozygous for a novel frame‐shift mutation in exon 22 of ATP13A2 (c.2473C>AA, p.Leu825AsnfsX32). Disease onset varied from 10 to 29 years of age, the latest reported, and the clinical features were highly variable within a wide spectrum of an extrapyramidal–pyramidal syndrome with cognitive/psychiatric features. Ataxia was seen in two patients and axonal neuropathy in one, features not previously related to KRS. Dopamine transporter scans showed symmetrical, severely reduced uptake in striatum in two patients. Magnetic resonance imaging was without atrophy in one patient despite disease duration of 17 years, and cerebral and cerebellar atrophy was seen in another patient after 4 years of disease duration. The molecular pathogenic mechanisms of ATP13A2 mutations are discussed. The observation that the mutant transcript is not degraded by nonsense‐mediated RNA decay and the fact that none of the eight heterozygous carriers from the family have KRS symptoms suggest that the mutant protein does not interfere and destroy the function of the wild‐type ATP13A2 protein. Article in Journal/Newspaper greenlandic inuit Wiley Online Library Clinical Genetics 82 3 256 263 |
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Wiley Online Library |
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English |
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Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE. Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9). Kufor‐Rakeb syndrome (KRS) is a rare autosomal recessive inherited juvenile parkinsonian syndrome caused by mutations in ATP13A2 . We describe six patients from a consanguineous Greenlandic Inuit family, homozygous for a novel frame‐shift mutation in exon 22 of ATP13A2 (c.2473C>AA, p.Leu825AsnfsX32). Disease onset varied from 10 to 29 years of age, the latest reported, and the clinical features were highly variable within a wide spectrum of an extrapyramidal–pyramidal syndrome with cognitive/psychiatric features. Ataxia was seen in two patients and axonal neuropathy in one, features not previously related to KRS. Dopamine transporter scans showed symmetrical, severely reduced uptake in striatum in two patients. Magnetic resonance imaging was without atrophy in one patient despite disease duration of 17 years, and cerebral and cerebellar atrophy was seen in another patient after 4 years of disease duration. The molecular pathogenic mechanisms of ATP13A2 mutations are discussed. The observation that the mutant transcript is not degraded by nonsense‐mediated RNA decay and the fact that none of the eight heterozygous carriers from the family have KRS symptoms suggest that the mutant protein does not interfere and destroy the function of the wild‐type ATP13A2 protein. |
format |
Article in Journal/Newspaper |
author |
Eiberg, H Hansen, L Korbo, L Nielsen, IM Svenstrup, K Bech, S Pinborg, LH Friberg, L Hjermind, LE Olsen, OR Nielsen, JE |
spellingShingle |
Eiberg, H Hansen, L Korbo, L Nielsen, IM Svenstrup, K Bech, S Pinborg, LH Friberg, L Hjermind, LE Olsen, OR Nielsen, JE Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9) |
author_facet |
Eiberg, H Hansen, L Korbo, L Nielsen, IM Svenstrup, K Bech, S Pinborg, LH Friberg, L Hjermind, LE Olsen, OR Nielsen, JE |
author_sort |
Eiberg, H |
title |
Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9) |
title_short |
Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9) |
title_full |
Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9) |
title_fullStr |
Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9) |
title_full_unstemmed |
Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9) |
title_sort |
novel mutation in atp13a2 widens the spectrum of kufor‐rakeb syndrome (park9) |
publisher |
Wiley |
publishDate |
2011 |
url |
http://dx.doi.org/10.1111/j.1399-0004.2011.01745.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2011.01745.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2011.01745.x |
genre |
greenlandic inuit |
genre_facet |
greenlandic inuit |
op_source |
Clinical Genetics volume 82, issue 3, page 256-263 ISSN 0009-9163 1399-0004 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1111/j.1399-0004.2011.01745.x |
container_title |
Clinical Genetics |
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82 |
container_issue |
3 |
container_start_page |
256 |
op_container_end_page |
263 |
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1810447867604631552 |