Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis
Neuronal ceroid lipofuscinoses (NCLs) are a group of rare, inherited, neurodegenerative lysosomal storage disorders that affect children and adults. They are traditionally grouped together, based on shared clinical symptoms and pathological ground. To date, 13 autosomal recessive gene variants, as w...
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| Language: | English |
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MDPI AG
2022-05-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/10/5729 |
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| author | Konrad Kaminiów Sylwia Kozak Justyna Paprocka |
| author_facet | Konrad Kaminiów Sylwia Kozak Justyna Paprocka |
| author_sort | Konrad Kaminiów |
| collection | DOAJ |
| description | Neuronal ceroid lipofuscinoses (NCLs) are a group of rare, inherited, neurodegenerative lysosomal storage disorders that affect children and adults. They are traditionally grouped together, based on shared clinical symptoms and pathological ground. To date, 13 autosomal recessive gene variants, as well as one autosomal dominant gene variant, of NCL have been described. These genes encode a variety of proteins, whose functions have not been fully defined; most are lysosomal enzymes, transmembrane proteins of the lysosome, or other organelles. Common symptoms of NCLs include the progressive loss of vision, mental and motor deterioration, epileptic seizures, premature death, and, in rare adult-onset cases, dementia. Depending on the mutation, these symptoms can vary, with respect to the severity and onset of symptoms by age. Currently, all forms of NCL are fatal, and no curative treatments are available. Herein, we provide an overview to summarize the current knowledge regarding the pathophysiology, genetics, and clinical manifestation of these conditions, as well as the approach to diagnosis. |
| first_indexed | 2024-03-10T03:43:51Z |
| format | Article |
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| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T03:43:51Z |
| publishDate | 2022-05-01 |
| publisher | MDPI AG |
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| series | International Journal of Molecular Sciences |
| spelling | doaj.art-cbbeea00e8674d798a49bbdd53719d512023-11-23T11:27:26ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-05-012310572910.3390/ijms23105729Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid LipofuscinosisKonrad Kaminiów0Sylwia Kozak1Justyna Paprocka2Students’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandStudents’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandPediatric Neurology Department, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandNeuronal ceroid lipofuscinoses (NCLs) are a group of rare, inherited, neurodegenerative lysosomal storage disorders that affect children and adults. They are traditionally grouped together, based on shared clinical symptoms and pathological ground. To date, 13 autosomal recessive gene variants, as well as one autosomal dominant gene variant, of NCL have been described. These genes encode a variety of proteins, whose functions have not been fully defined; most are lysosomal enzymes, transmembrane proteins of the lysosome, or other organelles. Common symptoms of NCLs include the progressive loss of vision, mental and motor deterioration, epileptic seizures, premature death, and, in rare adult-onset cases, dementia. Depending on the mutation, these symptoms can vary, with respect to the severity and onset of symptoms by age. Currently, all forms of NCL are fatal, and no curative treatments are available. Herein, we provide an overview to summarize the current knowledge regarding the pathophysiology, genetics, and clinical manifestation of these conditions, as well as the approach to diagnosis.https://www.mdpi.com/1422-0067/23/10/5729neuronal ceroid lipofuscinosisNCLneurodegenerative disorderslysosomal storage disordersgenetics |
| spellingShingle | Konrad Kaminiów Sylwia Kozak Justyna Paprocka Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis International Journal of Molecular Sciences neuronal ceroid lipofuscinosis NCL neurodegenerative disorders lysosomal storage disorders genetics |
| title | Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis |
| title_full | Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis |
| title_fullStr | Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis |
| title_full_unstemmed | Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis |
| title_short | Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis |
| title_sort | recent insight into the genetic basis clinical features and diagnostic methods for neuronal ceroid lipofuscinosis |
| topic | neuronal ceroid lipofuscinosis NCL neurodegenerative disorders lysosomal storage disorders genetics |
| url | https://www.mdpi.com/1422-0067/23/10/5729 |
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