Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects
Abstract Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead...
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| Autor*in: |
van Karnebeek, Clara D. [verfasserIn] Blydt-Hansen, Ingrid [verfasserIn] Matthews, Allison M. [verfasserIn] Avramovic, Vladimir [verfasserIn] Price, Magda [verfasserIn] Drogemoller, Britt [verfasserIn] Shyr, Casper [verfasserIn] Lee, Jessica [verfasserIn] Mwenifumbo, Jill [verfasserIn] Ghani, Aisha [verfasserIn] Stockler, Sylvia [verfasserIn] Friedman, Jan M. [verfasserIn] Lehman, Anna [verfasserIn] Ross, Colin J. [verfasserIn] Wasserman, Wyeth W. [verfasserIn] Tarailo-Graovac, Maja [verfasserIn] Horvath, Gabriella A. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2021 |
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| Schlagwörter: |
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| Anmerkung: |
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 |
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| Übergeordnetes Werk: |
Enthalten in: Neurogenetics - Springer-Verlag, 2001, 22(2021), 4 vom: 02. Juli, Seite 251-262 |
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| Übergeordnetes Werk: |
volume:22 ; year:2021 ; number:4 ; day:02 ; month:07 ; pages:251-262 |
| Links: |
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| DOI / URN: |
10.1007/s10048-021-00652-7 |
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| 520 | |a Abstract Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead to neurotransmitter abnormalities, which can present with similar features. Eleven patients with secondary neurotransmitter abnormalities were enrolled between 2011 and 2015. All patients underwent research-based whole exome and/or whole genome sequencing (WES/WGS). A trial of treatment with levodopa/carbidopa and 5-hydroxytryptophan was initiated. In six families with abnormal neurotransmitter profiles and neurological phenotypes, variants in known disease-causing genes (KCNJ6, SCN2A, CSTB in 2 siblings, NRNX1, KIF1A and PAK3) were identified, while one patient had a variant of uncertain significance in a candidate gene (DLG4) that may explain her phenotype. In 3 patients, no compelling candidate genes were identified. A trial of neurotransmitter replacement therapy led to improvement in motor and behavioral symptoms in all but two patients. The patient with KCNJ6 variant did not respond to L-dopa therapy, but rather experienced increased dyskinetic movements even at low dose of medication. The patient’s symptoms harboring the NRNX1 deletion remained unaltered. This study demonstrates the utility of genome-wide sequencing in further understanding the etiology and pathophysiology of neurometabolic conditions, and the potential of secondary neurotransmitter deficiencies to serve as novel therapeutic targets. As there was a largely favorable response to therapy in our case series, a careful trial of neurotransmitter replacement therapy should be considered in patients with cerebrospinal fluid (CSF) monoamines below reference range. | ||
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10.1007/s10048-021-00652-7 doi (DE-627)SPR045022763 (SPR)s10048-021-00652-7-e DE-627 ger DE-627 rakwb eng van Karnebeek, Clara D. verfasserin aut Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead to neurotransmitter abnormalities, which can present with similar features. Eleven patients with secondary neurotransmitter abnormalities were enrolled between 2011 and 2015. All patients underwent research-based whole exome and/or whole genome sequencing (WES/WGS). A trial of treatment with levodopa/carbidopa and 5-hydroxytryptophan was initiated. In six families with abnormal neurotransmitter profiles and neurological phenotypes, variants in known disease-causing genes (KCNJ6, SCN2A, CSTB in 2 siblings, NRNX1, KIF1A and PAK3) were identified, while one patient had a variant of uncertain significance in a candidate gene (DLG4) that may explain her phenotype. In 3 patients, no compelling candidate genes were identified. A trial of neurotransmitter replacement therapy led to improvement in motor and behavioral symptoms in all but two patients. The patient with KCNJ6 variant did not respond to L-dopa therapy, but rather experienced increased dyskinetic movements even at low dose of medication. The patient’s symptoms harboring the NRNX1 deletion remained unaltered. This study demonstrates the utility of genome-wide sequencing in further understanding the etiology and pathophysiology of neurometabolic conditions, and the potential of secondary neurotransmitter deficiencies to serve as novel therapeutic targets. As there was a largely favorable response to therapy in our case series, a careful trial of neurotransmitter replacement therapy should be considered in patients with cerebrospinal fluid (CSF) monoamines below reference range. Next generation sequencing (dpeaa)DE-He213 Neurotransmitters (dpeaa)DE-He213 Biogenic amines (dpeaa)DE-He213 Blydt-Hansen, Ingrid verfasserin aut Matthews, Allison M. verfasserin aut Avramovic, Vladimir verfasserin aut Price, Magda verfasserin aut Drogemoller, Britt verfasserin aut Shyr, Casper verfasserin aut Lee, Jessica verfasserin aut Mwenifumbo, Jill verfasserin aut Ghani, Aisha verfasserin aut Stockler, Sylvia verfasserin aut Friedman, Jan M. verfasserin aut Lehman, Anna verfasserin aut Ross, Colin J. verfasserin aut Wasserman, Wyeth W. verfasserin aut Tarailo-Graovac, Maja verfasserin aut Horvath, Gabriella A. verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 22(2021), 4 vom: 02. Juli, Seite 251-262 (DE-627)SPR00822823X nnns volume:22 year:2021 number:4 day:02 month:07 pages:251-262 https://dx.doi.org/10.1007/s10048-021-00652-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 22 2021 4 02 07 251-262 |
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10.1007/s10048-021-00652-7 doi (DE-627)SPR045022763 (SPR)s10048-021-00652-7-e DE-627 ger DE-627 rakwb eng van Karnebeek, Clara D. verfasserin aut Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead to neurotransmitter abnormalities, which can present with similar features. Eleven patients with secondary neurotransmitter abnormalities were enrolled between 2011 and 2015. All patients underwent research-based whole exome and/or whole genome sequencing (WES/WGS). A trial of treatment with levodopa/carbidopa and 5-hydroxytryptophan was initiated. In six families with abnormal neurotransmitter profiles and neurological phenotypes, variants in known disease-causing genes (KCNJ6, SCN2A, CSTB in 2 siblings, NRNX1, KIF1A and PAK3) were identified, while one patient had a variant of uncertain significance in a candidate gene (DLG4) that may explain her phenotype. In 3 patients, no compelling candidate genes were identified. A trial of neurotransmitter replacement therapy led to improvement in motor and behavioral symptoms in all but two patients. The patient with KCNJ6 variant did not respond to L-dopa therapy, but rather experienced increased dyskinetic movements even at low dose of medication. The patient’s symptoms harboring the NRNX1 deletion remained unaltered. This study demonstrates the utility of genome-wide sequencing in further understanding the etiology and pathophysiology of neurometabolic conditions, and the potential of secondary neurotransmitter deficiencies to serve as novel therapeutic targets. As there was a largely favorable response to therapy in our case series, a careful trial of neurotransmitter replacement therapy should be considered in patients with cerebrospinal fluid (CSF) monoamines below reference range. Next generation sequencing (dpeaa)DE-He213 Neurotransmitters (dpeaa)DE-He213 Biogenic amines (dpeaa)DE-He213 Blydt-Hansen, Ingrid verfasserin aut Matthews, Allison M. verfasserin aut Avramovic, Vladimir verfasserin aut Price, Magda verfasserin aut Drogemoller, Britt verfasserin aut Shyr, Casper verfasserin aut Lee, Jessica verfasserin aut Mwenifumbo, Jill verfasserin aut Ghani, Aisha verfasserin aut Stockler, Sylvia verfasserin aut Friedman, Jan M. verfasserin aut Lehman, Anna verfasserin aut Ross, Colin J. verfasserin aut Wasserman, Wyeth W. verfasserin aut Tarailo-Graovac, Maja verfasserin aut Horvath, Gabriella A. verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 22(2021), 4 vom: 02. Juli, Seite 251-262 (DE-627)SPR00822823X nnns volume:22 year:2021 number:4 day:02 month:07 pages:251-262 https://dx.doi.org/10.1007/s10048-021-00652-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 22 2021 4 02 07 251-262 |
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10.1007/s10048-021-00652-7 doi (DE-627)SPR045022763 (SPR)s10048-021-00652-7-e DE-627 ger DE-627 rakwb eng van Karnebeek, Clara D. verfasserin aut Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead to neurotransmitter abnormalities, which can present with similar features. Eleven patients with secondary neurotransmitter abnormalities were enrolled between 2011 and 2015. All patients underwent research-based whole exome and/or whole genome sequencing (WES/WGS). A trial of treatment with levodopa/carbidopa and 5-hydroxytryptophan was initiated. In six families with abnormal neurotransmitter profiles and neurological phenotypes, variants in known disease-causing genes (KCNJ6, SCN2A, CSTB in 2 siblings, NRNX1, KIF1A and PAK3) were identified, while one patient had a variant of uncertain significance in a candidate gene (DLG4) that may explain her phenotype. In 3 patients, no compelling candidate genes were identified. A trial of neurotransmitter replacement therapy led to improvement in motor and behavioral symptoms in all but two patients. The patient with KCNJ6 variant did not respond to L-dopa therapy, but rather experienced increased dyskinetic movements even at low dose of medication. The patient’s symptoms harboring the NRNX1 deletion remained unaltered. This study demonstrates the utility of genome-wide sequencing in further understanding the etiology and pathophysiology of neurometabolic conditions, and the potential of secondary neurotransmitter deficiencies to serve as novel therapeutic targets. As there was a largely favorable response to therapy in our case series, a careful trial of neurotransmitter replacement therapy should be considered in patients with cerebrospinal fluid (CSF) monoamines below reference range. Next generation sequencing (dpeaa)DE-He213 Neurotransmitters (dpeaa)DE-He213 Biogenic amines (dpeaa)DE-He213 Blydt-Hansen, Ingrid verfasserin aut Matthews, Allison M. verfasserin aut Avramovic, Vladimir verfasserin aut Price, Magda verfasserin aut Drogemoller, Britt verfasserin aut Shyr, Casper verfasserin aut Lee, Jessica verfasserin aut Mwenifumbo, Jill verfasserin aut Ghani, Aisha verfasserin aut Stockler, Sylvia verfasserin aut Friedman, Jan M. verfasserin aut Lehman, Anna verfasserin aut Ross, Colin J. verfasserin aut Wasserman, Wyeth W. verfasserin aut Tarailo-Graovac, Maja verfasserin aut Horvath, Gabriella A. verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 22(2021), 4 vom: 02. Juli, Seite 251-262 (DE-627)SPR00822823X nnns volume:22 year:2021 number:4 day:02 month:07 pages:251-262 https://dx.doi.org/10.1007/s10048-021-00652-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 22 2021 4 02 07 251-262 |
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10.1007/s10048-021-00652-7 doi (DE-627)SPR045022763 (SPR)s10048-021-00652-7-e DE-627 ger DE-627 rakwb eng van Karnebeek, Clara D. verfasserin aut Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead to neurotransmitter abnormalities, which can present with similar features. Eleven patients with secondary neurotransmitter abnormalities were enrolled between 2011 and 2015. All patients underwent research-based whole exome and/or whole genome sequencing (WES/WGS). A trial of treatment with levodopa/carbidopa and 5-hydroxytryptophan was initiated. In six families with abnormal neurotransmitter profiles and neurological phenotypes, variants in known disease-causing genes (KCNJ6, SCN2A, CSTB in 2 siblings, NRNX1, KIF1A and PAK3) were identified, while one patient had a variant of uncertain significance in a candidate gene (DLG4) that may explain her phenotype. In 3 patients, no compelling candidate genes were identified. A trial of neurotransmitter replacement therapy led to improvement in motor and behavioral symptoms in all but two patients. The patient with KCNJ6 variant did not respond to L-dopa therapy, but rather experienced increased dyskinetic movements even at low dose of medication. The patient’s symptoms harboring the NRNX1 deletion remained unaltered. This study demonstrates the utility of genome-wide sequencing in further understanding the etiology and pathophysiology of neurometabolic conditions, and the potential of secondary neurotransmitter deficiencies to serve as novel therapeutic targets. As there was a largely favorable response to therapy in our case series, a careful trial of neurotransmitter replacement therapy should be considered in patients with cerebrospinal fluid (CSF) monoamines below reference range. Next generation sequencing (dpeaa)DE-He213 Neurotransmitters (dpeaa)DE-He213 Biogenic amines (dpeaa)DE-He213 Blydt-Hansen, Ingrid verfasserin aut Matthews, Allison M. verfasserin aut Avramovic, Vladimir verfasserin aut Price, Magda verfasserin aut Drogemoller, Britt verfasserin aut Shyr, Casper verfasserin aut Lee, Jessica verfasserin aut Mwenifumbo, Jill verfasserin aut Ghani, Aisha verfasserin aut Stockler, Sylvia verfasserin aut Friedman, Jan M. verfasserin aut Lehman, Anna verfasserin aut Ross, Colin J. verfasserin aut Wasserman, Wyeth W. verfasserin aut Tarailo-Graovac, Maja verfasserin aut Horvath, Gabriella A. verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 22(2021), 4 vom: 02. Juli, Seite 251-262 (DE-627)SPR00822823X nnns volume:22 year:2021 number:4 day:02 month:07 pages:251-262 https://dx.doi.org/10.1007/s10048-021-00652-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 22 2021 4 02 07 251-262 |
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10.1007/s10048-021-00652-7 doi (DE-627)SPR045022763 (SPR)s10048-021-00652-7-e DE-627 ger DE-627 rakwb eng van Karnebeek, Clara D. verfasserin aut Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 Abstract Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead to neurotransmitter abnormalities, which can present with similar features. Eleven patients with secondary neurotransmitter abnormalities were enrolled between 2011 and 2015. All patients underwent research-based whole exome and/or whole genome sequencing (WES/WGS). A trial of treatment with levodopa/carbidopa and 5-hydroxytryptophan was initiated. In six families with abnormal neurotransmitter profiles and neurological phenotypes, variants in known disease-causing genes (KCNJ6, SCN2A, CSTB in 2 siblings, NRNX1, KIF1A and PAK3) were identified, while one patient had a variant of uncertain significance in a candidate gene (DLG4) that may explain her phenotype. In 3 patients, no compelling candidate genes were identified. A trial of neurotransmitter replacement therapy led to improvement in motor and behavioral symptoms in all but two patients. The patient with KCNJ6 variant did not respond to L-dopa therapy, but rather experienced increased dyskinetic movements even at low dose of medication. The patient’s symptoms harboring the NRNX1 deletion remained unaltered. This study demonstrates the utility of genome-wide sequencing in further understanding the etiology and pathophysiology of neurometabolic conditions, and the potential of secondary neurotransmitter deficiencies to serve as novel therapeutic targets. As there was a largely favorable response to therapy in our case series, a careful trial of neurotransmitter replacement therapy should be considered in patients with cerebrospinal fluid (CSF) monoamines below reference range. Next generation sequencing (dpeaa)DE-He213 Neurotransmitters (dpeaa)DE-He213 Biogenic amines (dpeaa)DE-He213 Blydt-Hansen, Ingrid verfasserin aut Matthews, Allison M. verfasserin aut Avramovic, Vladimir verfasserin aut Price, Magda verfasserin aut Drogemoller, Britt verfasserin aut Shyr, Casper verfasserin aut Lee, Jessica verfasserin aut Mwenifumbo, Jill verfasserin aut Ghani, Aisha verfasserin aut Stockler, Sylvia verfasserin aut Friedman, Jan M. verfasserin aut Lehman, Anna verfasserin aut Ross, Colin J. verfasserin aut Wasserman, Wyeth W. verfasserin aut Tarailo-Graovac, Maja verfasserin aut Horvath, Gabriella A. verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 22(2021), 4 vom: 02. Juli, Seite 251-262 (DE-627)SPR00822823X nnns volume:22 year:2021 number:4 day:02 month:07 pages:251-262 https://dx.doi.org/10.1007/s10048-021-00652-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA AR 22 2021 4 02 07 251-262 |
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van Karnebeek, Clara D. Blydt-Hansen, Ingrid Matthews, Allison M. Avramovic, Vladimir Price, Magda Drogemoller, Britt Shyr, Casper Lee, Jessica Mwenifumbo, Jill Ghani, Aisha Stockler, Sylvia Friedman, Jan M. Lehman, Anna Ross, Colin J. Wasserman, Wyeth W. Tarailo-Graovac, Maja Horvath, Gabriella A. |
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Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects |
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Abstract Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead to neurotransmitter abnormalities, which can present with similar features. Eleven patients with secondary neurotransmitter abnormalities were enrolled between 2011 and 2015. All patients underwent research-based whole exome and/or whole genome sequencing (WES/WGS). A trial of treatment with levodopa/carbidopa and 5-hydroxytryptophan was initiated. In six families with abnormal neurotransmitter profiles and neurological phenotypes, variants in known disease-causing genes (KCNJ6, SCN2A, CSTB in 2 siblings, NRNX1, KIF1A and PAK3) were identified, while one patient had a variant of uncertain significance in a candidate gene (DLG4) that may explain her phenotype. In 3 patients, no compelling candidate genes were identified. A trial of neurotransmitter replacement therapy led to improvement in motor and behavioral symptoms in all but two patients. The patient with KCNJ6 variant did not respond to L-dopa therapy, but rather experienced increased dyskinetic movements even at low dose of medication. The patient’s symptoms harboring the NRNX1 deletion remained unaltered. This study demonstrates the utility of genome-wide sequencing in further understanding the etiology and pathophysiology of neurometabolic conditions, and the potential of secondary neurotransmitter deficiencies to serve as novel therapeutic targets. As there was a largely favorable response to therapy in our case series, a careful trial of neurotransmitter replacement therapy should be considered in patients with cerebrospinal fluid (CSF) monoamines below reference range. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 |
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Abstract Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead to neurotransmitter abnormalities, which can present with similar features. Eleven patients with secondary neurotransmitter abnormalities were enrolled between 2011 and 2015. All patients underwent research-based whole exome and/or whole genome sequencing (WES/WGS). A trial of treatment with levodopa/carbidopa and 5-hydroxytryptophan was initiated. In six families with abnormal neurotransmitter profiles and neurological phenotypes, variants in known disease-causing genes (KCNJ6, SCN2A, CSTB in 2 siblings, NRNX1, KIF1A and PAK3) were identified, while one patient had a variant of uncertain significance in a candidate gene (DLG4) that may explain her phenotype. In 3 patients, no compelling candidate genes were identified. A trial of neurotransmitter replacement therapy led to improvement in motor and behavioral symptoms in all but two patients. The patient with KCNJ6 variant did not respond to L-dopa therapy, but rather experienced increased dyskinetic movements even at low dose of medication. The patient’s symptoms harboring the NRNX1 deletion remained unaltered. This study demonstrates the utility of genome-wide sequencing in further understanding the etiology and pathophysiology of neurometabolic conditions, and the potential of secondary neurotransmitter deficiencies to serve as novel therapeutic targets. As there was a largely favorable response to therapy in our case series, a careful trial of neurotransmitter replacement therapy should be considered in patients with cerebrospinal fluid (CSF) monoamines below reference range. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 |
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Abstract Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic conditions that lead to secondary defects in the synthesis, catabolism, transport, and metabolism of biogenic amines can lead to neurotransmitter abnormalities, which can present with similar features. Eleven patients with secondary neurotransmitter abnormalities were enrolled between 2011 and 2015. All patients underwent research-based whole exome and/or whole genome sequencing (WES/WGS). A trial of treatment with levodopa/carbidopa and 5-hydroxytryptophan was initiated. In six families with abnormal neurotransmitter profiles and neurological phenotypes, variants in known disease-causing genes (KCNJ6, SCN2A, CSTB in 2 siblings, NRNX1, KIF1A and PAK3) were identified, while one patient had a variant of uncertain significance in a candidate gene (DLG4) that may explain her phenotype. In 3 patients, no compelling candidate genes were identified. A trial of neurotransmitter replacement therapy led to improvement in motor and behavioral symptoms in all but two patients. The patient with KCNJ6 variant did not respond to L-dopa therapy, but rather experienced increased dyskinetic movements even at low dose of medication. The patient’s symptoms harboring the NRNX1 deletion remained unaltered. This study demonstrates the utility of genome-wide sequencing in further understanding the etiology and pathophysiology of neurometabolic conditions, and the potential of secondary neurotransmitter deficiencies to serve as novel therapeutic targets. As there was a largely favorable response to therapy in our case series, a careful trial of neurotransmitter replacement therapy should be considered in patients with cerebrospinal fluid (CSF) monoamines below reference range. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2021 |
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