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NARP Syndrome: A 20-Year Follow-Up
One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initia...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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S. Karger AG
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919433/ https://www.ncbi.nlm.nih.gov/pubmed/24516410 http://dx.doi.org/10.1159/000357518 |
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author | Rawle, Mark J. Larner, A.J. |
author_facet | Rawle, Mark J. Larner, A.J. |
author_sort | Rawle, Mark J. |
collection | PubMed |
description | One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initially assessed at age 39 years, she had retinitis pigmentosa and a mild sensory axonal neuropathy, typical features of NARP, but was otherwise clinically normal. At age 59 years, she was registered blind, had sensorineural hearing impairment, had recently been diagnosed with diabetes mellitus, and may have had some mild cognitive impairment. This case shows that the clinical phenotype of NARP due to mitochondrial dysfunction may evolve over a period of decades. |
format | Online Article Text |
id | pubmed-3919433 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-39194332014-02-10 NARP Syndrome: A 20-Year Follow-Up Rawle, Mark J. Larner, A.J. Case Rep Neurol Published online: December, 2013 One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initially assessed at age 39 years, she had retinitis pigmentosa and a mild sensory axonal neuropathy, typical features of NARP, but was otherwise clinically normal. At age 59 years, she was registered blind, had sensorineural hearing impairment, had recently been diagnosed with diabetes mellitus, and may have had some mild cognitive impairment. This case shows that the clinical phenotype of NARP due to mitochondrial dysfunction may evolve over a period of decades. S. Karger AG 2013-12-19 /pmc/articles/PMC3919433/ /pubmed/24516410 http://dx.doi.org/10.1159/000357518 Text en Copyright © 2013 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial 3.0 Unported license (CC BY-NC) (www.karger.com/OA-license), applicable to the online version of the article only. Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions. |
spellingShingle | Published online: December, 2013 Rawle, Mark J. Larner, A.J. NARP Syndrome: A 20-Year Follow-Up |
title | NARP Syndrome: A 20-Year Follow-Up |
title_full | NARP Syndrome: A 20-Year Follow-Up |
title_fullStr | NARP Syndrome: A 20-Year Follow-Up |
title_full_unstemmed | NARP Syndrome: A 20-Year Follow-Up |
title_short | NARP Syndrome: A 20-Year Follow-Up |
title_sort | narp syndrome: a 20-year follow-up |
topic | Published online: December, 2013 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919433/ https://www.ncbi.nlm.nih.gov/pubmed/24516410 http://dx.doi.org/10.1159/000357518 |
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