Cargando…
Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments
Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disease that often cuts short the life span of a child to 10 years. With a typical onset at 6 months of age, INAD is characterized by regression of acquired motor skills, delayed motor coordination and eventual loss of voluntary musc...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295457/ https://www.ncbi.nlm.nih.gov/pubmed/30619446 http://dx.doi.org/10.3389/fgene.2018.00597 |
_version_ | 1783380878637924352 |
---|---|
author | Babin, Patricia L. Rao, Sudheendra N. R. Chacko, Anita Alvina, Fidelia B. Panwala, Anil Panwala, Leena Fumagalli, Danielle C. |
author_facet | Babin, Patricia L. Rao, Sudheendra N. R. Chacko, Anita Alvina, Fidelia B. Panwala, Anil Panwala, Leena Fumagalli, Danielle C. |
author_sort | Babin, Patricia L. |
collection | PubMed |
description | Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disease that often cuts short the life span of a child to 10 years. With a typical onset at 6 months of age, INAD is characterized by regression of acquired motor skills, delayed motor coordination and eventual loss of voluntary muscle control. Biallelic mutations in the PLA2G6 gene have been identified as the most frequent cause of INAD. We highlight the salient features of INAD molecular pathology and the progress made in molecular diagnostics. We reiterate that enhanced molecular diagnostic methodologies such as targeted gene panel testing, exome sequencing, and whole genome sequencing can help ascertain a molecular diagnosis. We describe how the defective catalytic activity of the PLA2G6 gene could be potentially overcome by enzyme replacement or gene correction, giving examples and challenges specific to INAD. This is expected to encourage steps toward developing and testing emerging therapies that might alleviate INAD progression and help realize objectives of patient formed organizations such as the INADcure Foundation. |
format | Online Article Text |
id | pubmed-6295457 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-62954572019-01-07 Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments Babin, Patricia L. Rao, Sudheendra N. R. Chacko, Anita Alvina, Fidelia B. Panwala, Anil Panwala, Leena Fumagalli, Danielle C. Front Genet Genetics Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disease that often cuts short the life span of a child to 10 years. With a typical onset at 6 months of age, INAD is characterized by regression of acquired motor skills, delayed motor coordination and eventual loss of voluntary muscle control. Biallelic mutations in the PLA2G6 gene have been identified as the most frequent cause of INAD. We highlight the salient features of INAD molecular pathology and the progress made in molecular diagnostics. We reiterate that enhanced molecular diagnostic methodologies such as targeted gene panel testing, exome sequencing, and whole genome sequencing can help ascertain a molecular diagnosis. We describe how the defective catalytic activity of the PLA2G6 gene could be potentially overcome by enzyme replacement or gene correction, giving examples and challenges specific to INAD. This is expected to encourage steps toward developing and testing emerging therapies that might alleviate INAD progression and help realize objectives of patient formed organizations such as the INADcure Foundation. Frontiers Media S.A. 2018-12-10 /pmc/articles/PMC6295457/ /pubmed/30619446 http://dx.doi.org/10.3389/fgene.2018.00597 Text en Copyright © 2018 Babin, Rao, Chacko, Alvina, Panwala, Panwala and Fumagalli. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Babin, Patricia L. Rao, Sudheendra N. R. Chacko, Anita Alvina, Fidelia B. Panwala, Anil Panwala, Leena Fumagalli, Danielle C. Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments |
title | Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments |
title_full | Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments |
title_fullStr | Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments |
title_full_unstemmed | Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments |
title_short | Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments |
title_sort | infantile neuroaxonal dystrophy: diagnosis and possible treatments |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295457/ https://www.ncbi.nlm.nih.gov/pubmed/30619446 http://dx.doi.org/10.3389/fgene.2018.00597 |
work_keys_str_mv | AT babinpatricial infantileneuroaxonaldystrophydiagnosisandpossibletreatments AT raosudheendranr infantileneuroaxonaldystrophydiagnosisandpossibletreatments AT chackoanita infantileneuroaxonaldystrophydiagnosisandpossibletreatments AT alvinafideliab infantileneuroaxonaldystrophydiagnosisandpossibletreatments AT panwalaanil infantileneuroaxonaldystrophydiagnosisandpossibletreatments AT panwalaleena infantileneuroaxonaldystrophydiagnosisandpossibletreatments AT fumagallidaniellec infantileneuroaxonaldystrophydiagnosisandpossibletreatments |