Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism
Introduction - Clathrins play a key role in endocytosis, recycling, and trafficking as well as the generation of presynaptic vesicles. We report a new clinical condition associated with a de novo variant in the CLTC gene, which encodes the clathrin heavy polypeptide. - Case report - This 30-year-old...
Gespeichert in:
| Hauptverfasser: | , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2019
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| In: |
Parkinsonism & related disorders
Year: 2019, Jahrgang: 61, Pages: 207-210 |
| ISSN: | 1873-5126 |
| DOI: | 10.1016/j.parkreldis.2018.10.012 |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1016/j.parkreldis.2018.10.012 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S1353802018304401 
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| Verfasserangaben: | Filippo Manti, Francesca Nardecchia, Sabina Barresi, Martina Venditti, Simone Pizzi, Fadi F. Hamdan, Nenad Blau, Alberto Burlina, Marco Tartaglia, Vincenzo Leuzzi |
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| 245 | 1 | 0 | |a Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism |c Filippo Manti, Francesca Nardecchia, Sabina Barresi, Martina Venditti, Simone Pizzi, Fadi F. Hamdan, Nenad Blau, Alberto Burlina, Marco Tartaglia, Vincenzo Leuzzi |
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| 520 | |a Introduction - Clathrins play a key role in endocytosis, recycling, and trafficking as well as the generation of presynaptic vesicles. We report a new clinical condition associated with a de novo variant in the CLTC gene, which encodes the clathrin heavy polypeptide. - Case report - This 30-year-old woman presented with a developmental disorder during childhood that progressed to mild cognitive decline in late childhood and relapsing-remitting hypokinetic-rigid syndrome with severe achalasia, weight loss, and mood disorder in adulthood. 123I-Ioflupane SPECT was normal. Blood phenylalanine was slightly increased and PAH sequencing revealed compound heterozygosity for two variants, p.[Asp151Glu]:[Thr380Met]. CSF examination unexpectedly detected a remarkable reduction of homovanillic, 5-hydroxyindolacetic, and 5-methylthetrahydrofolic acids, which could not be ascribed to any alteration of tetrahydrobiopterin and related biogenic amine pathways. - Methods - Trio-based exome sequencing was performed. - Result - A de novo missense variant (c.2669C>T/p.Pro890Leu) was detected in CLTC. Treatment with biogenic amine precursors was ineffective, while the inhibitor of MAO-A selegiline resulted in persistent clinical improvement. - Conclusions - We suggest CLTC defect as a new disorder of biogenic amine trafficking, resulting in neurodevelopmental derangement and movement disorder. Neurotransmitter depletion in CSF may be a biomarker of this disease, and selegiline a possible treatment option. | ||
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| 650 | 4 | |a Parkinsonism | |
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